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Rabah Ben Yaou

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Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy

Abdallah Fayssoil , Nicolas Mansencal , Lee S. Nguyen , Olivier Nardi , Rabah Yaou
Journal of the American Heart Association, 2023, 12 (16), ⟨10.1161/JAHA.122.027231⟩
Journal articles hal-04190838v1
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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, In press, pp.jmg-2023-109473. ⟨10.1136/jmg-2023-109473⟩
Journal articles hal-04274614v1
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Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy

Abdallah Fayssoil , Lee S Nguyen , Tanya Stojkovic , Helene Prigent , Robert Carlier
Muscle & Nerve, 2022, 65 (1), pp.89-95. ⟨10.1002/mus.27432⟩
Journal articles hal-03521139v1
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Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

H Mosbah , B Donadille , C Vatier , S Janmaat , M Atlan
Orphanet Journal of Rare Diseases, 2022, ⟨10.1186/s13023-022-02308-7⟩
Journal articles hal-03649738v1

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⟩
Journal articles hal-03860537v1
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Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy

Yvan de Feraudy , Rabah Ben Yaou , Karim Wahbi , Caroline Stalens , Amalia Stantzou
Annals of Neurology, 2021, 89 (2), pp.280-292. ⟨10.1002/ana.25951⟩
Journal articles hal-03141478v1
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Improved cardiac outcomes by early treatment with angiotensin-converting enzyme inhibitors in Becker muscular dystrophy

Caroline Stalens , Leslie Motté , Anthony Béhin , Rabah Ben Yaou , France Leturcq
Journal of Neuromuscular Diseases, 2021, 8 (4), pp.495 - 502. ⟨10.3233/jnd-200620⟩
Journal articles hal-03464423v1
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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⟩
Journal articles hal-03352530v2
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Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data

Raphaël Porcher , Isabelle Desguerre , Helge Amthor , Brigitte Chabrol , Frédérique Audic
European Heart Journal, 2021, ⟨10.1093/eurheartj/ehab054⟩
Journal articles hal-03179750v1
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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⟩
Journal articles hal-03430955v1

MLIP: a novel gene causing rhabdomyolysis

Rabah Ben Yaou
Médecine/Sciences, 2021, 37, pp.48-48. ⟨10.1051/medsci/2021193⟩
Journal articles hal-04009560v1
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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⟩
Journal articles hal-03171665v1
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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⟩
Journal articles hal-03270153v1
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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⟩
Journal articles hal-03270971v1
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MLIP : un nouveau gène de rhabdomyolyse

Rabah Ben Yaou
Médecine/Sciences, 2021, 37, pp.48-48. ⟨10.1051/medsci/2021193⟩
Journal articles hal-03475162v1
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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
Journal articles hal-02527633v1
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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⟩
Journal articles hal-03855787v1
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X-linked Emery–Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures

Marion Brisset , Rabah Ben Yaou , Robert-Yves Carlier , Anaїs Chanut , Guillaume Nicolas
Neuromuscular Disorders, 2019, 29 (9), pp.678-683. ⟨10.1016/j.nmd.2019.06.009⟩
Journal articles hal-03864398v1

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

M de Antonio , C Dogan , B Eymard , J Puymirat , J Mathieu
Orphanet Journal of Rare Diseases, 2019
Journal articles hal-04015406v1

Phenotypic and genomic characterization as predictors of DMD 45 to 55 multi-exon skipping therapy

E. Gargaun , K. Wahbi , R. Ben Yaou , M. Guibaud , G. Solé
Neuromuscular Disorders, 2019, 29, pp.S165. ⟨10.1016/j.nmd.2019.06.449⟩
Journal articles cea-04414398v1
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Emery-Dreifuss Muscular Dystrophy

Gisèle Bonne , France Leturcq , Rabah Ben Yaou
Gene Reviews, 2019
Journal articles hal-03292021v1
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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⟩
Journal articles inserm-02355424v2
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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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miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context

Marine Guilbaud , Christel Gentil , Cecile Peccate , Elena Gargaun , Isabelle Holtzmann
Skeletal Muscle, 2018, 8 (1), pp.15. ⟨10.1186/s13395-018-0161-2⟩
Journal articles hal-01792009v1

Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis

Abdallah Fayssoil , Rabah Ben Yaou , Adam Ogna , Cendrine Chaffaut , France Leturcq
PLoS ONE, 2018, 13 (1), pp.e0190518. ⟨10.1371/journal.pone.0190518⟩
Journal articles hal-04015387v1
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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⟩
Journal articles hal-02368608v1
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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
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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⟩
Journal articles hal-01741741v1
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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⟩
Journal articles hal-03855669v1

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⟩
Journal articles hal-04021574v1

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms

Isabelle Marey , Rabah Ben Yaou , Nathalie Deburgrave , Aurélie Vasson , Juliette Nectoux
Journal of Neuromuscular Diseases, 2016, 3 (2), pp.227 - 245. ⟨10.3233/JND-150134⟩
Journal articles hal-01815023v1

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⟩
Journal articles hal-02190709v1
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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

Non-ambulant Duchenne patients theoretically treatable by Exon 53 skipping have severe phenotype

L. Servais , M. Montus , C. Le Guiner , R. Ben Yaou , M. Annoussamy
Journal of Neuromuscular Diseases, 2015, 2, pp.269-279. ⟨10.3233/JND-150100⟩
Journal articles hal-02881020v1
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Becker muscular dystrophy severity is linked to the structure of dystrophin.

Aurélie Nicolas , Céline Raguénès-Nicol , Rabah Ben Yaou , Sarah Ameziane-Le Hir , Angélique Chéron
Human Molecular Genetics, 2015, 24 (5), pp.1267-79. ⟨10.1093/hmg/ddu537⟩
Journal articles hal-01117005v1

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

The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Catherine Bladen , Karen Rafferty , Volker Straub , Soledad Monges , Angélica Moresco
Human Mutation, 2013, 34 (11), pp.1449 - 1457. ⟨10.1002/humu.22390⟩
Journal articles hal-01681801v1
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Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.

Aurélie Nicolas , Céline Lucchetti-Miganeh , Rabah Ben Yaou , Jean-Claude Kaplan , Jamel Chelly
Orphanet Journal of Rare Diseases, 2012, 7 (1), pp.45. ⟨10.1186/1750-1172-7-45⟩
Journal articles inserm-00736304v1

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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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

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

Emery-Dreifuss disease and related disorders

Rabah Ben Yaou
XXII Forum of Neuromuscular diseases of the Scientific Department of Neuromuscular Diseases of the Brazilian Academy of Neurology, Jun 2021, Virtual conference, Brazil
Conference papers hal-03988621v1

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

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

E Cohen , I Nelson , C Gartioux , M Beuvin , Z Mezdari
New Directions in Skeletal Muscle Biology, Jun 2020, Virtual conference (Covid), United States
Conference papers hal-04004866v1

New risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies

K Wahbi , R Ben Yaou , E Gandjbakhch , F Anselme , T Gossios
Congress of the European-Society-of-Cardiology (ESC) / World Congress of Cardiology, Aug 2019, Paris, France. pp.5164
Conference papers hal-03983930v1

Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome

M. Gomez Garcia de la Banda , D. Natera-de Benito , I. Dabaj , R. Ben Yaou , C. Ortez
24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. pp.S141, ⟨10.1016/j.nmd.2019.06.370⟩
Conference papers hal-03973469v1

LMNA-linked lipodystrophy : new insight on cardiovascular phenotypes

Corinne Vigouroux , Rabah Ben Yaou , Isabelle Jeru , Caroline Stalens , Olivier Lascols
9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom
Conference papers hal-03986922v1

The Laminopathies

Rabah Ben Yaou
Journée de recherche clinique du CNMR Ile de France (Hôpital Necker Enfants Malades), Dec 2018, Paris, France
Conference papers hal-03986882v1

The French OPALE registry update

Rabah Ben Yaou
LMNA consortium Meeting at Institute of Health Carlos III – ISCIII, Oct 2017, Madrid, Spain
Conference papers hal-03986859v1

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

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

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

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

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

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

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

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

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

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

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

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

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