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Gisèle Bonne

Directrice de Recherche INSERM Responsable d'équipe "Génétique et physiopathologie des maladies neuromusculaires liées à la matrice extracellulaire et du noyau" Centre de Recherche en Myologie -Sorbonne Université - Inserm Institut de Myologie - Paris - France
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Presentation

My research interest focuses on the analysis of skeletal and cardiac striated muscles in normal and pathologic conditions. After a PhD thesis (1990-1994) on the human cytochrome C oxidase complex during development and in mitochondrial myopathies, I had post-doctoral training in genetics where I identified the first mutation in the MYBPC3 gene responsible to familial hypertrophic cardiomyopathy (1995). Since 1996, date at which I got a permanent position at Inserm as senior researcher, I conducted my research program of the genetics and pathophysiology of Emery-Dreifuss muscular dystrophy (EDMD) and identified the first mutation of LMNA gene encoding Lamins A/C (1999). Mutations of this gene have been since linked to wide spectrum of disorders, the Laminopathies. My research program has evolved with time towards genetics and pathophysiology of Laminopathies and their related disorders and to reach now the genetics, the pathophysiology and the test of therapeutic approaches of several neuromuscular disorders, as I’m now leading a team of 15 persons at the Center of Research in Myology (Paris, France). The field of laminopathies has grown over the years, and is now a quite competitive and simulating research area. My team created 2 knock-in mouse models reproducing LMNA mutations identified in patients, models that mimics quite well some of the human disease features and thus represent unique tools to test therapeutic strategies. I have been the Chair of the French Society of Myology (SFM, 2015-2018) and I'm the treasure of the World Muscle Society (WMS) since 2017.

Skills

Human Genetics Rare Neuromuscular Diseases Laminopathies Nuclear Envelope A-type Lamins Striated muscle

Publications

Titin copy number variations associated with dominant inherited phenotypes

Aurélien Perrin , Corinne Métay , Marco Savarese , Rabah Ben Yaou , German Demidov
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference poster hal-04086226v1

Elucidating the molecular biology of Inclusion body Myositis through multi-omics analysis

Mridul Johari , Daphne Wijnbergen , Alaa Khan , Pedro Machado , Henry Houlden
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference poster hal-04086230v1

Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features

Jonathan De Winter , Liedewei van De Vondel , Gisèle Bonne , Tanya Stojkovic , Sahar Elouej
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference poster hal-04086227v1

Expérience de l’utilisation des corticoïdes dans les laminopathies de l’enfant

Rocio García-Uzquiano , Marta Gómez-García de la Banda , Laure Le Goff , Véronique Manel , Ivana Dabaj
32 ème congrès de la Société Française de Neurologie Pédiatrique, Marseille, Jan 2023, Marseille (FRANCE), France
Conference poster hal-04015316v1

Identification of potential genetic modifiers underlying phenotypic variability in a French family with striated muscle laminopathies

L. Benarroch , A. Bertrand , M. Beuvin , I. Nelson , N. Naouar
27th International Hybrid Annual Congress of the World-Muscle-Society (WMS), Oct 2022, Halifax, Canada. Neuromuscular Disorders, 32, pp.S108, 2022, ⟨10.1016/j.nmd.2022.07.273⟩
Conference poster hal-03983832v1

OPALE: A patient registry for Laminopathies and Emerinopathies in France.

Rabah Ben Yaou , Frédéric Anselme , Annachiara de Sandre-Giovannoli , Emmanuelle Campanna-Salort , Philippe Charron
19èmes Journées de la Société Française de Myologie, Nov 2022, Toulouse, France
Conference poster hal-04003074v1

Treatabolome database: current state and new developments towards enhancing rare disease treatment visibility

A Atalaia , C Hernandez Ferrer , A Corvó , L Matalonga , R Thompson
Solve-RD Annual Meeting 2022, Apr 2022, Virtual Conference, Germany
Conference poster hal-03989222v1

Analyses fonctionnelles et études de corrélation phénotype-génotype chez des patients suspects de titinopathie

Aurélien Perrin , Charles Van Goethem , Corinne Métay , Raul Juntas Morales , Françoise Chapon
19èmes Journées de la Société Française de Myologie, Nov 2022, Toulouse, France
Conference poster hal-04004837v1

Identification of potential genetic modifiers underlying phenotypic variability in a French family with striated muscle laminopathies

Louise Benarroch , Anne T. Bertrand , Maud Beuvin , Isabelle Nelson , Floriane Simonet
7th international congress of myology - Myology2022, Sep 2022, Nice, France
Conference poster hal-04004811v1

OPALE: A patient registry for Laminopathies and Emerinopathies in France.

Rabah Ben Yaou , Frédéric Anselme , Emmanuelle Campanna-Salort , Philippe Charron , Cathy Chikhaoui
7th international congress of Myology - Myology2022, Sep 2022, Nice, France
Conference poster hal-04003067v1

Gene therapy for striated muscle laminopathy

Mariko Okubo , Astrid Brull , Maud Beuvin , Nathalie Mougenot , Valérie Paradis
7th international congress of myology - Myology2022, Sep 2022, Nice, France
Conference poster hal-04004819v1

Editing the Nuclear Envelope: Using Human iPS Cells and CRISPR-Cas Technology to Develop Novel Therapies for Skeletal Muscle Laminopathies

Gisèle Bonne , D Moore, , V Lionello, , S Jalal, , Hs Stallard,
29th Annual Congress of the European-Society-of-Gene-and-Cell-Therapy (ESCGT), Oct 2022, Edinburgh, Ecosse, United Kingdom. Hum. Gene Ther., 33 (23-24), pp.A208, 2022
Conference poster hal-03983868v1

miRNA-processing pathway is impaired in striated muscle laminopathies

Astrid Brull , Maud Beuvin , Isabelle Nelson , Gisèle Bonne , Anne T. Bertrand
7th international congress of myology: Myology2022, Sep 2022, Nice Acropolis, France
Conference poster hal-03992829v1

LOXL4 loss-of-function: a novel cause of matrisome-related disease

Enzo Cohen , Isabelle Nelson , Corine Gartioux , Maud Beuvin , Zaineb Mezdari
7th international congress of myology - Myology2022, Sep 2022, Nice, France
Conference poster hal-04003081v1

OPALE: a patient registry for laminopathies and emerinopathies in France

R. Ben Yaou , F. Anselme , A. de Sande-Giovannoli , E. Campanna-Salort , P. Charron
27th International Hybrid Annual Congress of the World-Muscle-Society (WMS), Oct 2022, Halifax, Canada. Neuromuscular Disorders, 32, pp.S112, 2022, ⟨10.1016/j.nmd.2022.07.292⟩
Conference poster hal-03983839v1

Solve-RD, solving unsolved cold cases: TTN deletion described thanks to a systematic Copy Number Variant/Structural Variant (CNV/SV) reanalysis

Isabelle Nelson , Enzo Cohen , German Demidov , Aurélien Perrin , Mireille Cossée
7th international congress of myology - Myology2022, Sep 2022, Nice, France
Conference poster hal-04004807v1

The alpha2-subunit of the AP2 clathrin adaptor as the causal gene in an atypical myopathy with granulofilamentous inclusions

G. Moulay , I. Nelson , J. Lainé , E. Cohen , M. Lemaître
26th International Congress of the World Muscle Society (WMS), Sep 2021, Virtual conference, United Kingdom. Neuromuscular Disorders, 31, pp.S141-S142, 2021, ⟨10.1016/j.nmd.2021.07.326⟩
Conference poster hal-03983816v1

The α2-subunit of the AP2 clathrin adaptor as a new causal gene in an atypical myopathy with granulofilamentous inclusions

Gilles Moulay , Isabelle Nelson , Jeanne Lainé , Enzo Cohen , Mégane Lemaître
Congress of the World Muscle Society, Sep 2021, Virtual, France. 2021
Conference poster hal-03967904v1

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy

Anne T Bertrand , Astrid Brull , Feriel Azibani , Louise Benarroch , Khadija Chikhaoui
18èmes Journées de la Société Française de Myologie, Nov 2021, Saint Etienne, France
Conference poster hal-03989163v1

The Treatabolome flags treatable genes and variants: an emerging concept

A. Atalaia , R. Thompson , L. Matalonga , C. Hernandez-Ferrer , A. Corvo
26th International Congress of the World Muscle Society (WMS), Sep 2021, Virtual conference, United Kingdom. Neuromuscular Disorders, 31, pp.S146-S147, 2021, ⟨10.1016/j.nmd.2021.07.344⟩
Conference poster hal-03983828v1

Objective evaluation of clinical actionability for genes involved in myopathies: 34 promising genes

M Vecten, , E Pion, , Rj Morales, , D Sternberg, , J Rendu,
26th International Congress of the World-Muscle-Society (WMS), Sep 2021, Virtual conference, United Kingdom. Neuromuscular Disorders, 31 (Suppl 1), pp.LBP.14, 2021
Conference poster hal-03983901v1

The Treatabolome Database and Platform: enhancing Rare Diseases’ treatment visibility.

Carles Hernandez-Ferrer , Leslie Matalonga , Rachel Thompson , Leigh Carmody , Davide Piscia
European Human Genetics Virtual Conference 2021, Aug 2021, Virtual conference, United Kingdom
Conference poster hal-03988844v1

Treatabolome database: towards enhancing Rare Diseases' treatment visibility

C Hernandez-Ferrer, , A Corvo, , L Matalonga, , R Thompson, , L Carmody,
54th European Society of Human Genetics (ESHG) Conference, Aug 2021, Virtual conference, United Kingdom. Eur. J. Hum. Genet., 30 (Suppl 1), pp.P17.076.C, 2022
Conference poster hal-03983893v1

Combination of haploinsufficiency and dominant negative effects of mutant lamin A/C are responsible for the increased severity of L-CMD compared with EDMD

Anne T. Bertrand , Astrid Brull , Feriel Azibani , Monika Zwerger , Colin Stewart
Cure-CMD: 2021 Virtual SciFam, May 2021, Virtual conference, United States
Conference poster hal-03988774v1

Functional validation of a novel variant of the SPTAN1 gene identified in a family with distal motor myopathy with nerve involvement

S. Elouej , I. Nelson , E. Cohen , R. Ben Yaou , A. Isapof
26th International Congress of the World Muscle Society (WMS), Sep 2021, Virtual conference, United Kingdom. Neuromuscular Disorders, 31, pp.S72, 2021, ⟨10.1016/j.nmd.2021.07.100⟩
Conference poster hal-03983822v1

Treatabolome: a rare diseases treatment awareness project

A Atalaia , R Thompson , A Corvo , L Carmody , D Piscia
10th European Conference on Rare Diseases & Orphan Products 2020., May 2020, Virtual conference, Belgium
Conference poster hal-03986996v1

Treatabolome: a rare diseases treatment awareness project

A Atalaia , R Thompson , A Corvo , L Carmody , D Piscia
ESHG 2020.2 - European Human Genetics Virtual Conference, Jun 2020, Virtual conference, United Kingdom. Eur. J. Hum. Genet., 28 (Suppl 1), pp.P18.57.A, 2020
Conference poster hal-03983888v1

Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy

Enzo Cohen , Isabelle Nelson , Corine Gartioux , Maud Beuvin , Zaineb Mezdari
Solve-RD Annual Meeting, Mar 2020, Barcelona, Spain
Conference poster hal-03986992v1

The SOLVE-RD project: sharing patients’ data to diagnose rare diseases

Enzo Cohen , Isabelle Nelson , Valérie Allamand , Maud Beuvin , Corine Gartioux
6th International meeting of Myology - Myology 2019, Mar 2019, Bordeaux, France
Conference poster hal-03986811v1

Wild-type lamin A overexpression combined with mutant Lmna knock-down extends lifespan in a murine model of LMNA-congenital muscular dystrophy

A Brull , I Nelson , M Beuvin , F Azibani , Gisèle Bonne
ESGCT 27th Annual Congress in collaboration with SETGyc Meeting, Oct 2019, Barcelona, Spain. Hum. Gene Ther., 30 (11), pp.P484, 2019
Conference poster hal-03983916v1

Correlation between dystrophin espression and clinical phenotype using high-throughput digital immunoanalysis in Duchenne and Becker muscular dystrophy patients

S. Torelli , D. Scaglioni , V. Sardone , J. Domingos , A. Jones
24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S90, 2019, ⟨10.1016/j.nmd.2019.06.199⟩
Conference poster hal-03973454v1

Mechanically-induced nuclear damage and increased p53 signaling lead to myofiber dysfunction in skeletal muscle laminopathies

Tyler J. Kirby , Ashley J. Earle , Gregory R. Fedorchak , Philipp Isermann , Jineet Patel
9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom
Conference poster hal-03986939v1

Myocapture: a large-scale sequencing project to identify novel genes for myopathies

Xavière Lornage , Raphaël Schneider , Chrystel Chéraud , Edoardo Malfatti , Vanessa Schartner
Myologie 2019, Mar 2019, Bordeaux, France
Conference poster hal-04029248v1

Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy

M. Beuvin , E. Lacène , C. Labasse , G. Brochier , A. Madelaine
24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S138, 2019, ⟨10.1016/j.nmd.2019.06.359⟩
Conference poster hal-03973473v1

MODELLING SKELETAL MUSCLE LAMINOPATHIES USING HUMAN iPS CELLS AND BIO-ENGINEERED SKELETAL MUSCLES

Luca Pinton , Heather Steele-Stallard , Daniel Moore , Shilpita Sarcar , Tanel Ozdemir
9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom
Conference poster hal-03986927v1

LES CORTICOIDES ORAUX, UNE OPTION THERAPEUTIQUE DANS LES LAMINOPATHIES CONGENITALES ?

M Gomez-Garcia de la Banda , I Dabaj , R Ben Yaou , N Clarke , A Nascimento
17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France
Conference poster hal-03986950v1

Haploinsufficiency and dominant negative effects of mutant lamin A/C both contribute to the increased severity of L-CMD compared with EDMD.

Anne T. Bertrand , Astrid Brull , Feriel Azibani , Louise Benarroch , Monika Zwerger
17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseiile, France
Conference poster hal-03986960v1

Wild-type lamin A overexpression combined with mutant Lmna knock-down extends lifespan in a murine model of LMNA-congenital muscular dystrophy

Astrid Brull , Isabelle Nelson , Maud Beuvin , Feriel Azibani , Gisèle Bonne
17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France
Conference poster hal-03986971v1

Maintenance of nucleoplasmic lamin A/C during myoblast differentiation induces nuclear fusion in LMNA-related congenital myopathy

Anne T. Bertrand , Astrid Brull , Feriel Azibani , Bruno Cadot , Monika Zwerger
6th International meeting of Myology - Myology 2019, Mar 2019, Bordeaux, France
Conference poster hal-03986752v1

miRNA-processing pathway is impaired in skeletal muscle laminopathies

Astrid Brull , Isabelle Nelson , Maud Beuvin , Gisèle Bonne , Anne T Bertrand
17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France
Conference poster hal-03986975v1

LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families

R. Ben Yaou , T. Stojkovic , Mathieu Cerino , F. Duval , R. Juntas-Morales
24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S140, 2019, ⟨10.1016/j.nmd.2019.06.366⟩
Conference poster hal-03973478v1

Nuclear export of YAP requires functional LINC complexes in skeletal muscle

Daniel J. Owens , Martina Fischer , Kamel Mamchaoui , Sophie Moog , Gisèle Bonne
Satellite Meeting​ European Network for Laminopathies Meeting, Sep 2019, London, United Kingdom
Conference poster hal-03986932v1

Compound heterozygous mutations in the LOXL4 gene: a novel cause of contractural myopathy

Enzo Cohen , Isabelle Nelson , Corine Gartioux , Maud Beuvin , Zaineb Mezdari
17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France
Conference poster hal-03986965v1

Gene therapy for LMNA-related Congenital Muscular Dystrophy (L-CMD)

Astrid Brull , Isabelle Nelson , Maud Beuvin , Feriel Azibani , Gisèle Bonne
6th International meeting of Myology - Myology 2019, Mar 2019, Bordeaux, France
Conference poster hal-03986729v1

Nouvelle mutation d’épissage du gène POPDC1 (BVES) associée à des blocs de conduction cardiaque du 1er degré et une dystrophie musculaire

Isabelle Nelson , Maud Beuvin , Rabah Ben-Yaou , Cecile Masson , Anne Boland
9èmes Assises de génétique humaine et médicale, Jan 2018, Nantes, France.
Conference poster hal-03986833v1

Gene therapy via trans-splicing for LMNA-related congenital muscular dystrophy

F Azibani , A Brull , L Arandel , M Beuvin , I Nelson
Conference on Changing the Face of Modern Medicine - Stem Cell and Gene Therapy, Oct 2018, Lausanne, Switzerland. Hum. Gene Ther., 29 (12), pp.A138. P379, 2018
Conference poster hal-03983935v1

Loss of sarcomeric scaffolding as a common baseline histopathologic lesion in titin-related myopathies

E. Malfatti , R. Avila-Polo , X. Lornage , I. Nelson , J. Nectoux
23rd International Annual Congress of the World-Muscle-Society (WMS), Oct 2018, Mendoza, Argentina. Neuromuscular Disorders, 28, pp.S104-S105, 2018, ⟨10.1016/j.nmd.2018.06.289⟩
Conference poster hal-03973451v1

BVES loss-of-function mutations in limb-girdle muscular dystrophy 2X with cardiac conduction disorders

I. Nelson , W. de Ridder , B. Asselbergh , B. de Paepe , M. Beuvin
23rd International Annual Congress of the World-Muscle-Society (WMS), Oct 2018, Mendoza, Argentina. Neuromuscular Disorders, 28, pp.S59-S60, 2018, ⟨10.1016/j.nmd.2018.06.128⟩
Conference poster hal-03973447v1

Dystrophin quantification in Duchenne and Becker muscular dystrophy: correlation between dystrophin protein and clinical phenotype

V. Sardone , J. Domingos , S. Torelli , A. Jones , M. Ellis
11th UK Neuromuscular Translational Research Conference, Apr 2018, Cambridge, United Kingdom. Neuromuscular Disorders, 28, pp.S7-S8, 2018, ⟨10.1016/S0960-8966(18)30310-9⟩
Conference poster hal-03973445v1

POPDC1 gene mutation screening in patients with LGMD and heart disturbances: a mutation load effect?

R. Rossi , C. Scotton , P. Barton , R. Buchan , R. Walsh
22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S140, 2017, ⟨10.1016/j.nmd.2017.06.173⟩
Conference poster hal-03973396v1

First results from the international LMNA -related congenital and childhood onset muscular dystrophy retrospective natural history study

R. Ben Yaou , I. Dabaj , P. Yun , G. Norato , H. Xiong
22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. 27, pp.S137-S138, 2017, ⟨10.1016/j.nmd.2017.06.165⟩
Conference poster hal-03973439v1

POPDC1 gene mutations screening in laminopathies: possible role as a modifier

R Rossi , C Scotton , M Lorenzo , A d'Amico , G Ricci
50th European-Society-of-Human-Genetics (ESHG) Conference, May 2017, Copenhagen, Denmark. Eur. J. Hum. Genet., 26 (S), pp.445-446. P10.51C, 2018
Conference poster hal-03983938v1

Collagen VI deficiency: the heart of the matter

Margot Saunier , Corine Gartioux , Maud Beuvin , Nathalie Mougenot , Gisèle Bonne
Printemps de la Cardiologie, Apr 2017, Nantes, France
Conference poster hal-03996993v1

A novel INPP5K mutation in a sibship from the Reunion Island

I. Nelson , M. Jacquemont , A. Urtizberea , M. Renouil , A. Boland
22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S110-S111, 2017, ⟨10.1016/j.nmd.2017.06.071⟩
Conference poster hal-03973393v1

Abnormal trafficking of connexin 43: A key element in the development of LMNA cardiomyopathy

C. Macquart , M. Chatzifrangkeskou , M. Gotthardt , Gisèle Bonne , A. Muchir
22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S139, 2017, ⟨10.1016/j.nmd.2017.06.171⟩
Conference poster hal-03973377v1

Genetic characterization of a French cohort of GNE -mutation negative inclusion body myopathy patients using exome sequencing

Mathieu Cerino , Svetlana Gorokhova , P. Laforêt , R. Ben Yaou , Emmanuelle Salort-Campana
22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. 27, pp.S149, 2017, ⟨10.1016/j.nmd.2017.06.205⟩
Conference poster hal-03973434v1

Loss of TIEG expression results in defective skeletal muscle structure and function with associated impairment of mitochondrial biogenesis.

M Kammoun , V Veksler , J Piquereau , Gisèle Bonne , I Nelson
Annual Meeting of the American-Society-for-Bone-and-Mineral-Research (ASBMR), Sep 2017, Denver (CO), United States. J. Bone Miner. Res., 32 (Suppl 1), pp.S7-S8. 1024, 2017
Conference poster hal-03983941v1

Collagen VI deficiency: The heart of the matter

M. Saunier , C. Gartioux , M. Beuvin , N. Mougenot , G. Bonne
22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint-Malo, France. Neuromuscular Disorders, 27, pp.S106, 2017, ⟨10.1016/j.nmd.2017.06.057⟩
Conference poster hal-03996987v1

Nuclear envelope protein lamin A/C is a crucial mechanosensory component for skeletal muscle plasticity

Daniel Owens , Julien Messeant , G Herledan , Arnaud Ferry , Anne Bertrand
International Congress of Neuromuscular Disorders, Sep 2017, Ottawa, Canada. 2017
Conference poster hal-03968419v1

Novel recessive splice site mutation in POPDC1 ( BVES ) is associated with first-degree atrioventricular block and muscular dystrophy

I. Nelson , M. Beuvin , R. Ben-Yaou , C. Masson , A. Boland
22nd International Annual Congress of the World Muscle Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S139-S140, 2017, ⟨10.1016/j.nmd.2017.06.172⟩
Conference poster hal-03972940v1

A muscle hybrid promoter provides specific and effective gene expression after intramuscular and systemic delivery with AAV

K Piekarowicz , M Beuvin , M Machowska , A Bertrand , Gisèle Bonne
European-Society-of-Gene-and-Cell-Therapy (ESCGT) Congress, Oct 2017, Berlin, Germany. Hum. Gene Ther., 28 (12), pp.A44-A45. P096, 2017
Conference poster hal-03983944v1

Maintenance of nucleoplasmic lamin A/C during myoblast differentiation induces nuclear fusion in LMNA-related congenital myopathy

Anne T Bertrand , Feriel Azibani , Bruno Cadot , Monica Zwerger , Colin Stewart
10th European meeting on Intermediate filaments, Jun 2017, Saint Malo, France
Conference poster hal-03986879v1

Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies

I. Dabaj , R. Ben Yaou , C. Bönnemann , A. Nascimento , A. Rutkowski
22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S138, 2017, ⟨10.1016/j.nmd.2017.06.167⟩
Conference poster hal-03973411v1

TIEG1 is a novel regulator of muscle mitochondrial biogenesis

M. Kammoun , V. Veksler , J. Piquereau , Gisèle Bonne , M. Beuvin
22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S117, 2017, ⟨10.1016/j.nmd.2017.06.093⟩
Conference poster hal-03973380v1

Morphological spectrum of RYR1 recessive myopathies: clinical and genetic correlation

M Garibaldi , J Rendu , E Lacene , G Brochier , Maud Bauvin
Congress of the World Muscle Society, Oct 2017, Saint Malo, France. 2017
Conference poster hal-03968355v1

Morphological spectrum of RYR1 recessive myopathies: Clinical and genetic correlation.

M. Garibaldi , J. Rendu , E. Lacene , G. Brochier , M. Beuvin
22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorder, 27, pp.S239, 2017, ⟨10.1016/j.nmd.2017.06.518⟩
Conference poster hal-03973385v1
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The 2024 version of the gene table of neuromuscular disorders (nuclear genome)

Louise Benarroch , Gisèle Bonne , François Rivier , Dalil Hamroun
Neuromuscular Disorders, 2024, 34, pp.126 - 170. ⟨10.1016/j.nmd.2023.12.007⟩
Journal articles hal-04423642v1
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253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24-26 June 2022, Hoofddorp, The Netherlands

Lorenzo Maggi , Susana Quijano-Roy , Carsten Bönnemann , Gisèle Bonne
Neuromuscular Disorders, 2023, ⟨10.1016/j.nmd.2023.04.009⟩
Journal articles hal-04086238v1
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The 2023 version of the gene table of neuromuscular disorders (nuclear genome)

Louise Benarroch , Gisèle Bonne , Francois Rivier , Dalil Hamroun
Neuromuscular Disorders, 2023, 33 (1), pp.76-117. ⟨10.1016/j.nmd.2022.12.002⟩
Journal articles hal-03964998v1
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Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA

Ellen Gregory , Shilpi Kalra , Trisha Brock , Gisèle Bonne , G.W. Gant Luxton
PLoS Genetics, 2023, 19 (8), pp.e1010895. ⟨10.1371/journal.pgen.1010895⟩
Journal articles hal-04066711v1

Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts

Louise Benarroch , Julia Madsen-Østerbye , Mohamed Abdelhalim , Kamel Mamchaoui , Jessica Ohana
Cells, 2023, 12 (15), pp.1995. ⟨10.3390/cells12151995⟩
Journal articles hal-04253840v1

Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts

Louise Benarroch , Julia Madsen-Østerbye , Mohamed Abdelhalim , Kamel Mamchaoui , Jessica Ohana
Cells, 2023, 12 (15), pp.1995. ⟨10.3390/cells12151995⟩
Journal articles hal-04187751v1
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Titin copy number variations associated with dominant inherited phenotypes

Aurélien Perrin , Corinne Métay , Marco Savarese , Rabah Ben Yaou , German Demidov
Journal of Medical Genetics, inPress, pp.jmg-2023-109473. ⟨10.1136/jmg-2023-109473⟩
Journal articles hal-04274614v1
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TOR1AIP1-Associated Nuclear Envelopathies

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International Journal of Molecular Sciences, 2023, 24, ⟨10.3390/ijms24086911⟩
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Objective evaluation of clinical actionnability for genes involved in myopathies: 51 promising genes

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European Journal of Human Genetics, 2022, European Joural of Human Genetics, 30 (SUPPL 1, 1), pp.306
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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

Maude Vecten , Emmanuelle Pion , Marc Bartoli , Raul Juntas Morales , Damien Sternberg
International Journal of Molecular Sciences, 2022, 23 (15), pp.8506. ⟨10.3390/ijms23158506⟩
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LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD

Tanya Stojkovic , Marion Masingue , Corinne Métay , Norma Romero , Bruno Eymard
Journal of Neuromuscular Diseases, 2022, pp.1-9. ⟨10.3233/JND-221555⟩
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International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history

Rabah Ben Yaou , Pomi Yun , Adele D’amico , Muntoni Francesco , Carsten Bönnemann
Brain Communications, 2021, ⟨10.1093/braincomms/fcab075/6220465⟩
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Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

Antonio Atalaia , Rabah Ben Yaou , Karim Wahbi , Annachiara de Sandre-Giovannoli , Corinne Vigouroux
Journal of Neuromuscular Diseases, 2021, pp.1 - 21. ⟨10.3233/jnd-200596⟩
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Targeting the histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy

Anne-Claire Guenantin , Imen Jebeniani , Julia Leschik , Erwan Watrin , Gisèle Bonne
Journal of Clinical Investigation, 2021, 131 (1), ⟨10.1172/JCI136488⟩
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INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH

Denisa Hathazi , Daniel Cox , Adele d'Amico , Giorgio Tasca , Richard Charlton
Brain - A Journal of Neurology , 2021, 144 (8), pp.2427-2442. ⟨10.1093/brain/awab133⟩
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The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies

Nicolas Vignier , Maria Chatzifrangkeskou , Luca Pinton , Hugo Wioland , Thibaut Marais
Cell Reports, 2021, 36 (8), pp.109601. ⟨10.1016/j.celrep.2021.109601⟩
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A form of muscular dystrophy associated with pathogenic variants in JAG2

Sandra Coppens , Alison Barnard , Sanna Puusepp , Sander Pajusalu , Katrin Õunap
American Journal of Human Genetics, 2021, 108 (6), pp.1164. ⟨10.1016/j.ajhg.2021.04.018⟩
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High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients

Silvia Torelli , Domenic Scaglioni , Valentina Sardone , Matthew J Ellis , Joana Domingos
Journal of Neuropathology and Experimental Neurology, 2021, 80 (10), pp.955 - 965. ⟨10.1093/jnen/nlab088⟩
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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Anna Katharina Sommer , Iris Te Paske , Farid Yavari Dizjikan , Chiara Marini Bettolo , Ivo Glynne Gut
European Journal of Human Genetics, 2021, 29 (9), pp.1337 - 1347. ⟨10.1038/s41431-021-00852-7⟩
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Preclinical Advances of Therapies for Laminopathies

Louise Benarroch , Enzo Cohen , Antonio Atalaia , Rabah Ben Yaou , Gisèle Bonne
Journal of Clinical Medicine, 2021, 10 (21), pp.4834. ⟨10.3390/jcm10214834⟩
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Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Rebecca Schüle , Dagmar Timmann , Corrie Erasmus , Jennifer Reichbauer , Melanie Wayand
European Journal of Human Genetics, 2021, 29 (9), pp.1332-1336. ⟨10.1038/s41431-021-00901-1⟩
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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek , Kornelia Ellwanger , Lisenka E L M Vissers , Rebecca Schüle , Matthis Synofzik
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00859-0⟩
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The 2022 version of the gene table of neuromuscular disorders (nuclear genome)

Enzo Cohen , Gisèle Bonne , Francois Rivier , Dalil Hamroun
Neuromuscular Disorders, 2021, 31 (12), pp.1313-1357. ⟨10.1016/j.nmd.2021.11.004⟩
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Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth

Daniel J Owens , Julien Messéant , Sophie Moog , Mark Viggars , Arnaud Ferry
International Journal of Molecular Sciences, 2020, 22 (1), pp.306. ⟨10.3390/ijms22010306⟩
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Activation of sarcolipin expression and altered calcium cycling in LMNA cardiomyopathy

Blanca Morales Rodriguez , Alejandro Domínguez-Rodríguez , Jean-Pierre Benitah , Florence Lefebvre , Thibaut Marais
Biochemistry and Biophysics Reports, 2020, 22, pp.100767. ⟨10.1016/j.bbrep.2020.100767⟩
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Consequences of Lmna Exon 4 Mutations in Myoblast Function

Déborah Gómez-Domínguez , Carolina Epifano , Fernando De Miguel , Albert García Castaño , Borja Vilaplana-Martí
Cells, 2020, 9 (5), pp.1286. ⟨10.3390/cells9051286⟩
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The 2021 version of the gene table of neuromuscular disorders (nuclear genome)

Louise Benarroch , Gisèle Bonne , Francois Rivier , Dalil Hamroun
Neuromuscular Disorders, 2020, 30 (12), pp.1008-1048. ⟨10.1016/j.nmd.2020.11.009⟩
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2020, une année entre parenthèses

Emmanuelle Campana-Salort , Gisèle Bonne , Valérie Allamand , J. Andoni Urtizberea
Médecine/Sciences, 2020, 36, pp.5 - 5. ⟨10.1051/medsci/2020268⟩
Journal articles hal-03270951v1
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FHL1 is a key player of chikungunya virus tropism and pathogenesis

Laurent Meertens , Mohamed Lamine Hafirassou , Thérèse Couderc , Lucie Bonnet-Madin , Vasiliya Kril
Comptes Rendus Biologies, 2020, 343 (4), pp.79-89. ⟨10.5802/crbiol.40⟩
Journal articles pasteur-03246117v1
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Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy

Anne T Bertrand , Astrid Brull , Feriel Azibani , Louise Benarroch , Khadija Chikhaoui
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Novel Role of Tieg1 in Muscle Metabolism and Mitochondrial Oxidative Capacities

Malek Kammoun , Jérôme Piquereau , Vladimir Veksler , Lydie Nadal-Desbarats , Sandra Même
Acta Physiologica, 2020, 228 (3), pp.e13394. ⟨10.1111/apha.13394⟩
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A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Antonio Atalaia , Rachel Thompson , Alberto Corvo , Leigh Carmody , Davide Piscia
Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.206. ⟨10.1186/s13023-020-01493-7⟩
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Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells

Ashley Earle , Tyler Kirby , Gregory Fedorchak , Philipp Isermann , Jineet Patel
Nature Materials, 2020, 19 (4), pp.464-473. ⟨10.1038/s41563-019-0563-5⟩
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Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies

Hannah Nicolas , Anne T Bertrand , Sarah Labib , Musfira Mohamed-Uvaize , Pierrette Bolongo
Cells, 2020, 9 (11), pp.2388. ⟨10.3390/cells9112388⟩
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A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1

Nadine Ame van der Beek , Isabelle Nelson , Roseline Froissart , Thierry Levade , Virginie Garcia
European Journal of Human Genetics, 2019, 27 (3), pp.337-339. ⟨10.1038/s41431-018-0250-z⟩
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Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

Willem de Ridder , Isabelle Nelson , Bob Asselbergh , Boel de Paepe , Maud Beuvin
Neurology Genetics, 2019, 5 (2), pp.e321. ⟨10.1212/NXG.0000000000000321⟩
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Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome

Rachel Thompson , Gisèle Bonne , Paolo Missier , Hanns Lochmuller
Emerging Topics in Life Sciences, 2019, 3 (1), pp.19-37. ⟨10.1042/ETLS20180100⟩
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A muscle hybrid promoter as a novel tool for gene therapy

Katarzyna Piekarowicz , Anne T Bertrand , Feriel Azibani , Maud Beuvin , Laura Julien
Molecular Therapy - Methods and Clinical Development, 2019, 15 (8), pp.157 - 169. ⟨10.1016/j.omtm.2019.09.001⟩
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214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015

Alan H. Beggs , Gisèle Bonne , Carsten Bönnemann , Sandra Donkervoort , James J. Dowling
Neuromuscular Disorders, 2019, 29 (8), pp.644-650. ⟨10.1016/j.nmd.2019.07.002⟩
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Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222P mutant mice

Eiji Wada , Megumi Kato , Kaori Yamashita , Hiroko Kokuba , Wen-Chen Liang
PLoS ONE, 2019, 14 (8), pp.e0221512. ⟨10.1371/journal.pone.0221512⟩
Journal articles inserm-02271145v1
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Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy

Nicolas Vignier , Nathalie Mougenot , Gisèle Bonne , Antoine Muchir
Biochemistry and Biophysics Reports, 2019, 19, pp.100664. ⟨10.1016/j.bbrep.2019.100664⟩
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Emery-Dreifuss Muscular Dystrophy

Gisèle Bonne , France Leturcq , Rabah Ben Yaou
Gene Reviews, 2019
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FHL1 is a major host factor for chikungunya virus infection

Laurent Meertens , Mohamed Lamine Hafirassou , Thérèse Couderc , Lucie Bonnet-Madin , Vasiliya Kril
Nature, 2019, 574 (7777), pp.259-263. ⟨10.1038/s41586-019-1578-4⟩
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Evaluation of missense and splicing in silico predictions tools and implementation of an efficient SNV prioritization NGS pipeline for molecular diagnosis of Myopathies and Muscular Dystrophies

K. Yauy , David Baux , H. Pegeot , C. van Goethem , C. Mathieu
European Journal of Human Genetics, 2019, 27 (1), pp.339. ⟨10.1038/s41431-019-0404-7⟩
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The mammalian LINC complex component SUN1 regulates muscle regeneration by modulating drosha activity

Tsui Han Loo , Xiaoqian Ye , Ruth Jinfen Chai , Mitsuteru Ito , Gisele Bonne
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Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy

Nicolas Vignier , Nathalie Mougenot , Gisèle Bonne , Antoine Muchir
Biochemistry and Biophysics Reports, 2019, 19, pp.100664. ⟨10.1016/j.bbrep.2019.100664⟩
Journal articles hal-04031062v1
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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Karim Wahbi , Rabah Ben Yaou , Estelle Gandjbakhch , Frédéric Anselme , Thomas Gossios
Circulation, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Journal articles hal-02237297v1
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The 2020 version of the gene table of neuromuscular disorders (nuclear genome)

Louise Benarroch , Gisèle Bonne , Francois Rivier , Dalil Hamroun
Neuromuscular Disorders, 2019, 29 (12), pp.980-1018. ⟨10.1016/j.nmd.2019.10.010⟩
Journal articles hal-02393145v1
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The 13C hyperpolarized pyruvate generated by ParaHydrogen detects the response of the heart to altered metabolism in real time

Eleonora Cavallari , Carla Carrera , Matteo Sorge , Gisèle Bonne , Antoine Muchir
Scientific Reports, 2018, 8 (1), ⟨10.1038/s41598-018-26583-2⟩
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Amelioration of desmin network defects by αB-crystallin overexpression confers cardioprotection in a mouse model of dilated cardiomyopathy caused by LMNA gene mutation

Zoi Galata , Ismini Kloukina , Ioanna Kostavasili , Aimilia Varela , Constantinos H Davos
Journal of Molecular and Cellular Cardiology, 2018, 125, pp.73-86. ⟨10.1016/j.yjmcc.2018.10.017⟩
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Rescue of biosynthesis of nicotinamide adenine dinucleotide protects the heart in cardiomyopathy caused by lamin A/C gene mutation

Nicolas Vignier , Maria Chatzifrangkeskou , Blanca Morales Rodriguez , Mathias Mericskay , Nathalie Mougenot
Human Molecular Genetics, 2018, 27 (22), pp.3870-3880. ⟨10.1093/hmg/ddy278⟩
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Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

P. H. Jonson , J. Palmio , M. Johari , S. Penttilä , A. Evilä
European Journal of Neurology, 2018, 25 (5), pp.790-794. ⟨10.1111/ene.13598⟩
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The 2019 version of the gene table of neuromuscular disorders (nuclear genome)

Gisèle Bonne , Francois Rivier , Dalil Hamroun
Neuromuscular Disorders, 2018, ⟨10.1016/j.nmd.2018.09.006⟩
Journal articles hal-01934859v1
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The Pathogenesis and Therapies of Striated Muscle Laminopathies

Astrid Brull , Blanca Morales Rodriguez , Gisele Bonne , Antoine Muchir , Anne T Bertrand
Frontiers in Physiology, 2018, 9, pp.1533. ⟨10.3389/fphys.2018.01533⟩
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Lamin and the heart

Gabriella Captur , Eloisa Arbustini , Gisèle Bonne , Petros Syrris , Kevin Mills
Heart, 2018, 104 (6), pp.468-479. ⟨10.1136/heartjnl-2017-312338⟩
Journal articles hal-03285171v1
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Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation

Maria Chatzifrangkeskou , David Yadin , Thibaut Marais , Solenne Chardonnet , Mathilde Cohen-Tannoudji
Human Molecular Genetics, 2018, 27 (17), pp.3060-3078. ⟨10.1093/hmg/ddy215⟩
Journal articles hal-01962065v1
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Microtubule cytoskeleton regulates Connexin 43 localization and cardiac conduction in cardiomyopathy caused by mutation in A-type lamins gene

Coline Macquart , Rene Jüttner , Blanca Morales Rodriguez , Caroline Le Dour , Florence Lefebvre
Human Molecular Genetics, 2018, 28 (24), pp.4043-4052. ⟨10.1093/hmg/ddy227⟩
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N-acetyl cysteine alleviates oxidative stress and protects mice from dilated cardiomyopathy caused by mutations in nuclear A-type lamins gene

Blanca Morales Rodriguez , Lara Khouzami , Valérie Decostre , Shaida Varnous , Vanja Pekovic-Vaughan
Human Molecular Genetics, 2018, 27 (19), pp.3353-3360. ⟨10.1093/hmg/ddy243⟩
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Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

Rainiero Ávila-Polo , Edoardo Malfatti , Xavière Lornage , Chrystel Cheraud , Isabelle Nelson
Journal of Neuropathology and Experimental Neurology, 2018, 77 (12), pp.1101-1114. ⟨10.1093/jnen/nly095⟩
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SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells

Alexandre Janin , Delphine Bauer , Francesca Ratti , Camille Valla , Anne T Bertrand
Scientific Reports, 2018, 8 (1), ⟨10.1038/s41598-018-23918-x⟩
Journal articles hal-03270318v1
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Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes

Pia Bernasconi , Nicola Carboni , Giulia Ricci , Gabriele Siciliano , Luisa Politano
Nucleus, 2018, 9 (1), pp.337-349. ⟨10.1080/19491034.2018.1467722⟩
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Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires

Aurélien Perrin , Philippe Latour , Vincent Procaccio , Claude Jardel , Mathieu Cerino
Médecine/Sciences, 2018, 34 (Hors-série 2), pp.20-22. ⟨10.1051/medsci/201834s206⟩
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Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up

David Gómez-Andrés , Jordi Diaz-Manera , Aida Alejaldre , Irene Pulido-Valdeolivas , Laura González-Mera
Muscle & nerve. Supplement., 2018, 58 (6), pp.812-817. ⟨10.1002/mus.26312⟩
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Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy

Feriel Azibani , Astrid Brull , Ludovic Arandel , Maud Beuvin , Isabelle Nelson
Molecular Therapy - Nucleic Acids, 2018, 10, pp.376 - 386. ⟨10.1016/j.omtn.2017.12.012⟩
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Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation

Maria Chatzifrangkeskou , David Yadin , Thibaut Marais , Solenne Chardonnet , Mathilde Cohen-Tannoudji
Human Molecular Genetics, 2018, 27 (17), pp.3060-3078. ⟨10.1093/hmg/ddy215⟩
Journal articles hal-04031040v1

L’errance diagnostique au cœur des préoccupations du 3 e Plan National Maladies Rares

Gisèle Bonne , Jean Pouget
Médecine/Sciences, 2018, 34, pp.5-5. ⟨10.1051/medsci/201834s201⟩
Journal articles hal-03855810v1
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Cardiometabolic assessment of lamin A/C gene mutation carriers: A phenotype-genotype correlation.

Maxime Kwapich , Dominique Lacroix , Stéphanie Espiard , Sandro Ninni , François Brigadeau
Diabetes & Metabolism, 2018, Diabetes & metabolism, 45, pp.382-389. ⟨10.1016/j.diabet.2018.09.006⟩
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Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

Mathieu Cerino , Svetlana Gorokhova , Pascal Laforet , Rabah Ben Yaou , Emmanuelle Salort-Campana
Muscle & Nerve, 2017, 56, pp.993-997. ⟨10.1002/mus.25638⟩
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Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1

Christine Schwartz , Martina Fischer , Kamel Mamchaoui , Anne Bigot , Thevy Lok
Scientific Reports, 2017, 7 (1), pp.1253. ⟨10.1038/s41598-017-01324-z⟩
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The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Gisèle Bonne , Francois Rivier , Dalil Hamroun
Neuromuscular Disorders, 2017, 27 (12), pp.1152-1183. ⟨10.1016/j.nmd.2017.10.005⟩
Journal articles hal-01668854v1
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Clinical heterogeneity and phenotype/genotype findings in 5 families with &ITGYG1&IT deficiency

Rabah Ben Yaou , Aurelie Hubert , Isabelle Nelson , Julia R. Dahlqvist , David Gaist
Neurology Genetics, 2017, 3 (6), pp.e208. ⟨10.1212/NXG.0000000000000208⟩
Journal articles hal-04010378v2

Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care

Felice Heller , Ivana Dabaj , Jean Mah , Jean Bergounioux , Aben Essid
Cardiology in the Young, 2017, 27 (6), pp.1076-1082. ⟨10.1017/S1047951116002079⟩
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Decreased WNT/β-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene

Caroline Le Dour , Coline Macquart , Fusako Sera , Shunichi Homma , Gisèle Bonne
Human Molecular Genetics, 2017, 7 (1), pp.ddw389. ⟨10.1093/hmg/ddw389⟩
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Anti-HMGCR antibody–related necrotizing zutoimmune myopathy mimicking muscular dystrophy

Céline Tard , Vincent Tiffreau , Emmanuelle Jaillette , Fabienne Jouen , Isabelle Nelson
Neuropediatrics, 2017, 48 (06), pp.473-476. ⟨10.1055/s-0037-1604402⟩
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Mutation in lamin A/C sensitizes the myocardium to exercise-induced mechanical stress but has no effect on skeletal muscles in mouse

Marie-Elodie Cattin , Arnaud Ferry , Alban Vignaud , Nathalie Mougenot , Adeline Jacquet
Neuromuscular Disorders, 2016, ⟨10.1016/j.nmd.2016.05.010⟩
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Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC

D. Avila-Smirnow , L. Gueneau , S. Batonnet-Pichon , F. Delort , H.-M. Bécane
Revue Neurologique, 2016, 172 (10), pp.594-606. ⟨10.1016/j.neurol.2016.07.017⟩
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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Stéphanie Bauché , Seana O’regan , Yoshiteru Azuma , Fanny Laffargue , Grace Mcmacken
American Journal of Human Genetics, 2016, 99 (3), pp.753 - 761. ⟨10.1016/j.ajhg.2016.06.033⟩
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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Stéphanie Bauché , Seana O’regan , Yoshiteru Azuma , Fanny Laffargue , Grace Mcmacken
American Journal of Human Genetics, 2016, 99 (3), pp.753-761. ⟨10.1016/j.ajhg.2016.06.033⟩
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ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene

Maria Chatzifrangkeskou , Caroline Le Dour , Wei Wu , John Morrow , Leroy Joseph
Human Molecular Genetics, 2016, 25 (11), pp.2220-2233. ⟨10.1093/hmg/ddw090⟩
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EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome

Elena Gargaun , Andreea Mihaela Seferian , Ruxandra Cardas , Anne-Gaelle Le Moing , Catherine Delanoe
Journal of Neurology, 2016, 263 (7), pp.1456-1458. ⟨10.1007/s00415-016-8153-9⟩
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A common French-Italian laminopathy registry – update & future prospects

Gisèle Bonne , Rabah Ben Yaou
Orphanet Journal of Rare Diseases, 2015, 10 (Suppl 2), pp.O31. ⟨10.1186/1750-1172-10-S2-O31⟩
Journal articles hal-01227847v1
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Truncated prelamin A expression in HGPS-like patients: a transcriptional study

Florian Barthelemy , Claire L. Navarro , Racha Fayek , Nathalie da Silva , Patrice Roll
European Journal of Human Genetics, 2015, 23 (8), pp.1051 - 1061. ⟨10.1038/ejhg.2014.239⟩
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Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

Juliette Nectoux , Rafael de Cid , Sylvain Baulande , France Leturcq , Jon Andoni Urtizberea
European Journal of Human Genetics, 2015, 23 (7), pp.929-934. ⟨10.1038/ejhg.2014.223⟩
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An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

Annachiara de Sandre-Giovannoli , Nicolas Lévy , Rabah Ben Yaou , France Leturcq , Giovanna Lattanzi
Orphanet Journal of Rare Diseases, 2015, 10 (Suppl 2), ⟨10.1186/1750-1172-10-S2-I1⟩
Journal articles hal-01769449v1

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

France Nelson , France Stojkovic , France Allamand , France Leturcq , Henri-Marc Becane
Journal of Neuromuscular Diseases, 2015, 2 (3), pp.229 - 240. ⟨10.3233/JND-150093⟩
Journal articles hal-01681760v1

A new titinopathy

Rafael de Cid , Rabah Ben Yaou , Carinne Roudaut , Karine Charton , Sylvain Baulande
Neurology, 2015, 85 (24), pp.2126-2135. ⟨10.1212/WNL.0000000000002200⟩
Journal articles hal-02336883v1
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Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors

Anne Bertrand , Simindokht Ziaei , Camille Ehret , Hélène Duchemin , Kamel Mamchaoui
Journal of Cell Science, 2014, 127 (13), pp.2873-2884. ⟨10.1242/jcs.144907⟩
Journal articles inserm-02426468v1
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Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization

Stéphane Vassilopoulos , Christel Gentil , Jeanne Lainé , Pierre-Olivier Buclez , Agathe Franck
Journal of Cell Biology, 2014, 205 (3), pp.377-393. ⟨10.1083/jcb.201309096⟩
Journal articles hal-02453865v1
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Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

Imen Dorboz , Marie Coutelier , Anne T. Bertrand , Jean-Hubert Caberg , Monique Elmaleh-Bergès
Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.174. ⟨10.1186/s13023-014-0174-9⟩
Journal articles hal-01110718v1

Forelimb Treatment in a Large Cohort of Dystrophic Dogs Supports Delivery of a Recombinant AAV for Exon Skipping in Duchenne Patients

Caroline Le Guiner , Marie Montus , Laurent Servais , Yan Cherel , Virginie François
Molecular Therapy, 2014, 22 (11), pp.1923-1935. ⟨10.1038/mt.2014.151⟩
Journal articles inserm-02447482v1
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Role of dynamin 2 in the disassembly of focal adhesions

Laura Briñas , Stéphane Vassilopoulos , Gisele Bonne , Pascale Guicheney , Marc Bitoun
Journal of Molecular Medicine, 2013, 91 (7), pp.803-809. ⟨10.1007/s00109-013-1040-2⟩
Journal articles hal-02453840v1
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Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.

Gisèle Bonne , Susana Quijano-Roy
Handb Clin Neurol, 2013, 113, pp.1367-76. ⟨10.1016/B978-0-444-59565-2.00007-1⟩
Journal articles inserm-00826557v1

A novel genetic variant in the transcription factor Islet‐1 exerts gain of function on myocyte enhancer factor 2C promoter activity

Felix Friedrich , Gilles Dilanian , Patricia Khattar , Denise Juhr , Lucie Gueneau
European Journal of Heart Failure, 2013, 15 (3), pp.267-276. ⟨10.1093/eurjhf/hfs178⟩
Journal articles hal-03824016v1

Distinctive Serum miRNA Profile in Mouse Models of Striated Muscular Pathologies

Nicolas Vignier , Fatima Amor , Paul Fogel , Angélique Duvallet , Jérôme Poupiot
PLoS ONE, 2013, 8 (2), pp.e55281. ⟨10.1371/journal.pone.0055281⟩
Journal articles hal-02336920v1

Myoblasts and Embryonic Stem Cells Differentially Engraft in a Mouse Model of Genetic Dilated Cardiomyopathy

Cyril Catelain , Stéphanie Riveron , Aurélie Papadopoulos , Nathalie Mougenot , Adeline Jacquet
Molecular Therapy, 2013, 21 (5), pp.1064-1075. ⟨10.1038/mt.2013.15⟩
Journal articles hal-03823994v1
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Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity.

Marie-Elodie Cattin , Anne T Bertrand , Saskia Schlossarek , Marie-Catherine Le Bihan , Søren Skov Jensen
Human Molecular Genetics, 2013, 22 (15), pp.3152-64. ⟨10.1093/hmg/ddt172⟩
Journal articles inserm-00826642v1
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Dynamic interplay between human myoblasts and 3D fibrin-based matrix

Stéphane Chiron , Carole Tomczak , Alain Duperray , Jeanne Laine , Gisele Bonne
PLoS ONE, 2012, 7 (4), pp.e36173. ⟨10.1371/journal.pone.0036173⟩
Journal articles hal-00694186v1
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A Centronuclear Myopathy - Dynamin 2 Mutation Impairs Autophagy in Mice

Anne-Cécile Durieux , Stéphane Vassilopoulos , Jeanne Lainé , Bodvael Fraysse , Laura Briñas
Traffic, 2012, 13 (6), pp.869-879. ⟨10.1111/j.1600-0854.2012.01348.x⟩
Journal articles hal-02453822v1

DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.

Anne T. Bertrand , Laure Renou , Aurélie Papadopoulos , Maud Beuvin , Emmanuelle Lacène
Human Molecular Genetics, 2012, 21 (5), pp.1037-48. ⟨10.1093/hmg/ddr534⟩
Journal articles hal-00672148v1

Distinction Between Two Populations of Islet-1-Positive Cells in Hearts of Different Murine Strains

Patricia Khattar , Felix Friedrich , Gisèle Bonne , Lucie Carrier , Thomas Eschenhagen
Stem Cells and Development, 2011, 20 (6), pp.1043-1052. ⟨10.1089/scd.2010.0374⟩
Journal articles hal-03824036v1

Modifier locus of the skeletal muscle involvement in Emery–Dreifuss muscular dystrophy

B. Granger , L. Gueneau , V. Drouin-Garraud , Vincent Pedergnana , F. Gagnon
Human Genetics, 2011, 129 (2), pp.149-159. ⟨10.1007/s00439-010-0909-1⟩
Journal articles hal-03691751v1
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ColVI-myopathies: where do we stand, where do we go?

Allamand V , Laura Briñas , Pascale Richard , Tanya Stojkovic , Susana Quijano-Roy
Skeletal Muscle, 2011, 1 (1), pp.30. ⟨10.1186/2044-5040-1-30⟩
Journal articles inserm-00630240v1
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Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

Rabah Ben Yaou , Claire L. Navarro , Susana Quijano-Roy , Anne T. Bertrand , Catherine Massart
European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2010.256⟩
Journal articles hal-00611256v1
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Upregulation of PPARβ/δ Is Associated with Structural and Functional Changes in the Type I Diabetes Rat Diaphragm

Nadège Salvi , Aziz Guellich , Pierre Michelet , Alexandre Demoule , Morgan Le Guen
PLoS ONE, 2010, 5 (7), pp.e11494. ⟨10.1371/journal.pone.0011494⟩
Journal articles inserm-02426556v1

Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies.

Takuro Arimura , Anne Helbling-Leclerc , Catherine Massart , Shaida Varnous , Florence Niel
Human Molecular Genetics, 2005, 14 (1), pp.155-69. ⟨10.1093/hmg/ddi017⟩
Journal articles hal-00165763v1

ERDERA and opportunities for French genetics teams

Gisèle Bonne
3rd Thursday of Clinical Genetics - “2025 France Genomic Medicine Initiative” (PFMG 2025) and the International Context, Feb 2024, Paris, France
Conference papers hal-04460541v1

Concept de gènes actionnables et application dans le domaine neuromusculaire.

Gisèle Bonne , Martin Krahn
25èmes Journées Neuromusculaires de Marseille, Sep 2023, Marseille, France
Conference papers hal-04189737v1

Quantification of skeletal muscle strength in laminopathies

Valérie Decostre , Cathy Chikhaoui , Corinne Vigouroux , Susana Quijano-Roy , Karim Wahbi
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189561v1

VP429 Impaired skeletal muscle strength in adult patients with laminopathies

V. Decostre , C. Chikhaoui , C. Vigouroux , A. Behin , G. Bassez
28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S159-S160, ⟨10.1016/j.nmd.2023.07.370⟩
Conference papers hal-04280272v1

Challenges in gene therapy for striated muscle laminopathy

Anne T Bertrand , Mariko Okubo , Astrid Brull , Maud Beuvin , Nathalie Mougenot
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04170075v1

The Treatabolome flags treatable genes and variants: an emerging concept

Gisèle Bonne
NC-IUPHAR Symposium April 2023, Servier, Apr 2023, Paris, France
Conference papers hal-04189545v1

Le Treatabolome : une base de donnée des traitements existant pour les maladies rares à l’échelle du gène/variant

Gisèle Bonne
Webinaire de la Filière en Santé Filnemus, May 2023, Paris, France
Conference papers hal-04189577v1

P166 Deciphering the genetic cause of oculopharyngodistal myopathy in a French cohort using Cas9-targeted long-read sequencing

L. Benarroch , I. Nelson , T. Stojkovic , B Mohand Oumoussa , H. Madry
28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S141, ⟨10.1016/j.nmd.2023.07.298⟩
Conference papers hal-04280249v1

Solve-NMD in Paris: Project results

Isabelle Nelson , German Demidov , Enzo Cohen , Aurélien Perrin , Mireille Cossée
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference papers hal-04086236v1

2002 - 2023 : l’Odyssée de… la Myologie

Gisèle Bonne
20èmes Journées de la Société Française de Myologie, Societe Française de Myologie, Nov 2023, La Baule (France), France
Conference papers hal-04319081v1

Linking actionable genes to the treatabolome in myopathies

Gisèle Bonne , Martin Krahn
NC-IUPHAR Symposium April 2023, Apr 2023, Paris, France
Conference papers hal-04078530v1

Steroid treatment may change natural history in congenital laminopathies

Rocio Garcia-Uzquiano , Marta Gomez-García de La Banda , Laure Le Goff , Veronique Manel , Ivana Dabaj
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189730v1

Using patient iPSC-derived skeletal muscle models for development of a CRISPR-based exon removal therapeutic strategy

Daniel Moore , Heather Steele-Stallard , Luca Pinton , Valentina Lionello , Salma Jalal
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189588v1

Comment résoudre les impasses diagnostiques des maladies rares : partage systématique des données paneuropéennes et analyse collaborative : le projet Solve-RD

Gisèle Bonne
Journée thématique sur l'errance et l'impasse diagnostiques - Filière Filnemus, Filnemus, Dec 2023, Paris, France
Conference papers hal-04319087v1

Recent insights in the pathophysiological mechanisms of striated muscle laminopathies

Rabah Ben Yaou , Louise Benarroch , Marine Leconte , Maud Beuvin , Isabelle Nelson
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189555v1

Modeling of LMNA p.H222P mutation- related cardiomyopathy using human induced pluripotent stem cells

Magali Seguret , C. Jouve , Z R. Al Sayed , C. Pereira , V. Ragot
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189728v1

O03 In vivo gene therapy for striated muscle laminopathy

M. Okubo , A. Brull , M. Beuvin , N. Mougenot , V. Paradis
28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S67, ⟨10.1016/j.nmd.2023.07.018⟩
Conference papers hal-04280254v1

Validation of Myo-converted fi broblasts as a relevant model to study chromatin organization defects in striated muscle laminopathies

Louise Benarroch , Julia Madsen-Østerbye , Mohamed Abdelhalim , Kamel Mamchaoui , Jessica Ohana
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189720v1

Insights in the pathophysiological mechanisms of striated muscle Laminopathies

Gisèle Bonne
European Meeting on Intermediate Filaments, Elly Hol, Jun 2023, Noorwijkerhout, Netherlands
Conference papers hal-04189581v1

Insights in the pathophysiological mechanisms of striated muscle Laminopathies

Gisèle Bonne
Ottawa NMD 2023 Conference, Sep 2023, Ottawa, Canada
Conference papers hal-04189748v1

P338 Clinical, morphological, and proteomic features of patients suspected of X-linked myopathy with excessive autophagy (XMEA)

A. Merlet , E. Lacène , I. Nelson , G. Brochier , C. Labasse
28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S99, ⟨10.1016/j.nmd.2023.07.136⟩
Conference papers hal-04280238v1

DNA damage repair in LMNA-related congenital muscular dystrophy

Marine Leconte , Anne Bertrand , Zoheir Guesmia , Gisèle Bonne , Gisèle Bonne
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189722v1

P431 Steroid treatment may change natural history in congenital laminopathies

M Gomez Garcia , R. Garcia-Uzquiano , L. Le Goff , V. Manel , I. Dabaj
28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S160, ⟨10.1016/j.nmd.2023.07.372⟩
Conference papers hal-04280227v1

P158 Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features

J. de Winter , L. van de Vondel , Gisèle Bonne , T. Stojkovic , S. Elouej
28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S139, ⟨10.1016/j.nmd.2023.07.290⟩
Conference papers hal-04280233v1

Identification of potential genetic modifi ers underlying phenotypic variability in a French family with striated muscle laminopathies

Louise Benarroch , Anne T. Bertrand , Maud Beuvin , Isabelle Nelson , Naïra Naouar
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189567v1

Treatabolome DB: linking gene and variants with treatments for rare diseases

A. Corvó , L. Matalonga , C. Hernandez-Ferrer , R. Thompson , L. Carmody
Solve-RD, Solving the unsolved Rare Diseases Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference papers hal-04086225v1

Investigating lineage-specifi c phenotypes of laminopathies using induced pluripotent stem cells

Noreen Khokhar , Cathleen Hagemann , Luca Pinton , Daniel Moore , Jean-Marie Cuisset
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189725v1

How to solve rare diseases: systematic pan-European data sharing and collaborative analysis: the Solve-RD project

Gisèle Bonne
15th Congress of the European Paedriatric Neurology Society, European Paedriatric Neurology Society, Jun 2023, Prague, Czech Republic
Conference papers hal-04189585v1

P192 The open-access treatabolome platform enhances the visibility of treatable and actionable genes in RD-connect's GPAP and other clinical diagnosis support tools

A. Atalaia , R. Thompson , L. Matalonga , C. Hernandez-Ferrer , A. Corvo
28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston, United States. pp.S142, ⟨10.1016/j.nmd.2023.07.301⟩
Conference papers hal-04280259v1

Gene therapy for striated muscle laminopathy (in vivo study)

Mariko Okubo , Astrid Brull , Maud Beuvin , Nathalie Mougenot , Valérie Paradis
4th International Meeting on Laminopathies, May 2023, Madrid, Spain
Conference papers hal-04189734v1

A robust and practical myogenic system to explore cellular and genomic features of muscle differentiation

L. Benarroch , J. Madsen-Østerbye , M. Abdelhalim , K. Mamchaoui , J. Ohana
28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston, United States. pp.S158, ⟨10.1016/j.nmd.2023.07.363⟩
Conference papers hal-04280205v1

Identification of genetic modifiers modulating the disease severity of LMNA-Congenital Muscular Dystrophy (LMNA-CMD)

Gisèle Bonne
MDUK Muscles Matter online seminar series Congenital muscular dystrophy (CMD), Mar 2022, Virtual conference, United Kingdom
Conference papers hal-03984491v1

Gene therapy for striated muscle laminopathy

Mariko Okubo , Astrid Brull , Isabelle Nelson , Maud Beuvin , Laura Julien
12th French-Japanese Workshop on Neuromuscular Diseases, Gisèle Bonne; Ichizo Nishino, Sep 2022, Giverny, France
Conference papers hal-03989233v1

Identification of genetic modifiers modulating the disease severity of LMNA-Congenital Muscular Dystrophy (LMNA-CMD)

Gisèle Bonne
European Network for Laminopathies Meeting, Sep 2022, Bologna, Italy
Conference papers hal-03984504v1

Development of gene therapy for striated muscle laminopathy

Mariko Okubo , Astrid Brull , Maud Beuvin , Gisèle Bonne , Anne T Bertrand
Cure CMD scientific and family conference, Jun 2022, Nashville, United States
Conference papers hal-04004853v1

AAV-driven human BAG3 overexpression unexpectedly exacerbate heart failure in a LMNAH222P DCM mice model

Océane Piedallu , Perrine Devos , Nathalie Mougenot , Laetitia Duboscq-Bidot , Tiphaine Héry
Printemps de la Cardiologie 2022, Jun 2022, Tours, France. pp.192, ⟨10.1016/j.acvdsp.2022.04.082⟩
Conference papers hal-04072101v1

Striated muscle laminopathies, from gene defects to pathomechanisms and therapeutic approaches: what are we missing?

Gisèle Bonne
Discovering a cure for LMNA: Current strategies, crazy ideas and future collaborations, Apr 2022, Virtual conference, Netherlands
Conference papers hal-03984492v1

Patients’ registries: present and future

Gisèle Bonne
253rd ENMC International Workshop: Striated Muscle Laminopathies, G Bonne, S Quijano-Roy, L Maggi, C Bonnemann, Jun 2022, Hoofddorp, Netherlands
Conference papers hal-03984497v1

Origin of the increased severity of LMNA-related muscular dystrophy compared with Emery-Dreyfuss muscular dystrophy

Anne T Bertrand , Astrid Brull , Feriel Azibani , Ludovic Arandel , Gisèle Bonne
A hybrid workshop on the nuclear envelope, mechanobiology and rare diseases, Oct 2022, Singapore, Singapore
Conference papers hal-04004827v1

Cold Case (Season II): TTN deletion described after CNV analyses

Isabelle Nelson , German Demidov , Enzo Cohen , Aurélien Perrin , Mireille Cossée
Solve-RD Annual Meeting 2022, Apr 2022, Virtual conference, Germany
Conference papers hal-03989193v1

Gene therapy for striated muscle laminopathies

Mariko Okubo , Astrid Brull , Maud Beuvin , Nathalie Mougenot , Gisèle Bonne
European Network for Laminopathies Meeting, Sep 2022, Bologna, Italy
Conference papers hal-04003052v1

Discussion needed on how to define and select non-clinical biomarkers

Gisèle Bonne
253rd ENMC International Workshop: Striated Muscle Laminopathies, G Bonne, S Quijano-Roy, L Maggi, C Bonnemann, Jun 2022, Hoofddorp, Netherlands
Conference papers hal-03984500v1

The clinico-genetic spectrum of Lamin A/C gene (LMNA) mutations

Gisèle Bonne
A hybrid workshop on the nuclear envelope, mechanobiology and rare disease, Oct 2022, Hybrid conference, Singapore
Conference papers hal-03984506v1

Table Ronde: Quel avenir pour la recherche sur les maladies rares ?

Gisèle Bonne
Dix ans de contribution de l’ANR au domaine des maladies rares, Nov 2022, Paris, France
Conference papers hal-03984507v1

Etude des dommages de l'ADN dans la dystrophie musculaire congénitale liée à LMNA

Marine Leconte , Gisèle Bonne , Anne T Bertrand
19èmes Journées de la Société Française de Myologie, Nov 2022, Toulouse, France
Conference papers hal-04004845v1

Striated muscle laminopathies: Modifier variants

Gisèle Bonne
253rd ENMC International Workshop: Striated Muscle Laminopathies, G Bonne, S Quijano-Roy, L Maggi, C Bonnemann, Jun 2022, Hoofddorp, Netherlands
Conference papers hal-03984494v1

Striated muscle of Laminopathies, Scientific advances for the development of treatments

Gisèle Bonne
LMNACardio Foundation meeting, Oct 2021, Virtual conference, Netherlands
Conference papers hal-03984485v1

Treatabolome database: towards enhancing Rare Diseases’ treatment visibility

C. Hernandez-Ferrer , A. Corvó , L. Matalonga , R. Thompson , L. Carmody
Solve-RD Annual Meeting 2021, Apr 2021, Virtual conference, Germany
Conference papers hal-03988747v1

The Treatabolome flags treatable genes and variants: an emerging concept

Gisèle Bonne
ERN-Euro-NMD-Eurordis CETF symposium, Nov 2021, Virtual conference, France
Conference papers hal-03984489v1

Molecular pathophysiological mechanisms of Cardiac Laminopathies

Gisèle Bonne
British Heart Fondation Centre virtual 2021 Symposium, Nov 2021, Virtual conference, United Kingdom
Conference papers hal-03984487v1

History and discovery of Laminopathy , Scientific advances for the development of treatments

Gisèle Bonne
Symposium on Rare Diseases in Puerto Rico from the Capitol, Jul 2021, Virtual conference, Puerto Rico
Conference papers hal-03984484v1

The Treatabolome flags treatable genes and variants: an emerging concept

A Atalaia , C Hernandez Ferrer , A Corvó , L Matalonga , R Thompson
ERN Euro-NMD Webinar on Treatabolome, Oct 2021, Webinar, Germany
Conference papers hal-03989142v1

Solve-RD: Un projet Européen visant à réduire l’errance diagnostique

Gisèle Bonne
Eunjeux et Défis de la Recherche dans les Maladies Rares - Fondation Malaides Rares, May 2021, Conference - Online., France
Conference papers hal-03984480v1

LMNA (Laminopathy) Research

Gisèle Bonne
Cure-CMD: 2021 Virtual SciFam, May 2021, Virtual conference, United States
Conference papers hal-03984482v1

Cold Case: Patient with only one CAPN3 variant

Isabelle Nelson , Enzo Cohen , Rabah Ben Yaou , France Leturq , Juliette Nectoux
Solve-RD Annual Meeting 2021, Apr 2021, Virtual conference, Germany
Conference papers hal-03988006v1