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Gene therapies for RyR1-related myopathies
Isabelle Marty
,
Mathilde Beaufils
,
Julien Fauré
,
John Rendu
Article dans une revue
hal-04789691
v1
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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
Clémence Labasse
,
Guy Brochier
,
Ana-Lia Taratuto
,
Bruno Cadot
,
John Rendu
et al.
Article dans une revue
hal-03820052
v1
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Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy
Justine Géraud
,
Klaus Dieterich
,
John Rendu
,
Emmanuelle Uro Coste
,
Murielle Dobrzynski
et al.
Article dans une revue
hal-02964560
v1
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Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq
Faris Ghalib Bakri
,
Michelle Mollin
,
Sylvain Beaumel
,
Bénédicte Vigne
,
Nathalie Roux-Buisson
et al.
Article dans une revue
hal-03186791
v1
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Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome
Pauline Le Tanno
,
Mathilde Folacci
,
Jean Revilloud
,
Laurence Faivre
,
Gabriel Laurent
et al.
Article dans une revue
hal-03478814
v1
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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
Valérie Biancalana
,
John Rendu
,
Annabelle Chaussenot
,
Helen Mecili
,
Eric Bieth
et al.
Article dans une revue
hal-03613310
v1
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Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome
Marion Egot
,
Dominique Lasne
,
Sonia Poirault-Chassac
,
Tristan Mirault
,
Dominique Pidard
et al.
Article dans une revue
hal-04463208
v1
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In vivo RyR1 reduction in muscle triggers a core-like myopathy
Laurent Pelletier
,
Anne Petiot
,
Julie Brocard
,
Benoit Giannesini
,
Diane Giovannini
et al.
Article dans une revue
hal-03357440
v2
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Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations in CYBB
Michelle Mollin
,
Sylvain Beaumel
,
Bénédicte Vigne
,
Julie Brault
,
Nathalie Roux-Buisson
et al.
Article dans une revue
hal-02974713
v1
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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
Sandra Donkervoort
,
Carl Kutzner
,
Ying Hu
,
Xavière Lornage
,
John Rendu
et al.
Article dans une revue
hal-03668017
v1
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New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes
Stéphanie Bauché
,
Alain Sureau
,
Damien Sternberg
,
John Rendu
,
Céline Buon
et al.
Article dans une revue
inserm-03555554
v1
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A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect
Marion Masingue
,
Julien Fauré
,
Guilhem Solé
,
Tanya Stojkovic
,
Sarah Léonard-Louis
Article dans une revue
hal-03486192
v1
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‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
Matteo Garibaldi
,
John Rendu
,
Julie Brocard
,
Emmanuelle Lacène
,
Julien Fauré
et al.
Article dans une revue
hal-01973947
v1
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TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia
Fabien Vanden Abeele
,
Sabine Lotteau
,
Sylvie Ducreux
,
Charlotte Dubois
,
Nicole Monnier
et al.
Article dans une revue
hal-02475163
v1
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Pathophysiological Role of Trpv1 In Malignant Hyperthermia: Identification of New Variants
Nolwenn Tessier
,
Mallory Ducrozet
,
Sylvie Ducreux
,
Julien Fauré
,
Fabien van Coppenolle
Article dans une revue
hal-03884888
v1
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Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome
John Rendu
,
Rodrick Montjean
,
Charles Coutton
,
Mohnish Suri
,
Gaetan Chicanne
et al.
Article dans une revue
hal-03828357
v1
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SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia inhomozygotes
Zine-Eddine Kherraf
,
Marie Christou-Kent
,
Thomas Karaouzene
,
Amir Amiri-Yekta
,
Guillaume Martinez
et al.
Article dans une revue
hal-01741725
v1
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Corrigendum to "22nd International Congress of the World Muscle Society, Saint Malo, France, 3rd-7th October 2017" [Neuromuscular Disorders 27S2 (2017) S51-S270]
J. Rendu
,
C. Bosson
,
N. Roux-Buisson
,
A. Chatagnon
,
B. Bankole
et al.
Article dans une revue
hal-01743651
v1
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Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)
Andreea M. Seferian
,
Edoardo Malfatti
,
Caroline Bosson
,
Laurent Pelletier
,
Jessica Taytard
et al.
Article dans une revue
hal-01402113
v1
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The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease
Laurianne Davignon
,
Claire Chauveau
,
Cédric Julien
,
Corinne Dill
,
Isabelle Duband-Goulet
et al.
Article dans une revue
hal-01295646
v1
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Functional characterization of a Central Core Disease RyR1 mutation (p.Y4864H) associated with quantitative defect in RyR1 protein
Marine Cacheux
,
Ariane Blum
,
Muriel Sébastien
,
Julie Brocard
,
Kamel Mamchaoui
et al.
Article dans une revue
inserm-01216714
v1
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Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening.
Nathalie Roux-Buisson
,
Estelle Gandjbakhch
,
Erwan Donal
,
Vincent Probst
,
Jean-Claude Deharo
et al.
Heart Rhythm, 2014, pp.1999-2009
Article dans une revue
inserm-01120324
v1
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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
Johann Böhm
,
Valerie Biancalana
,
Edoardo Malfatti
,
Nicolas Dondaine
,
Catherine Koch
et al.
Article dans une revue
hal-04981583
v1
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Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.
John Rendu
,
Julie Brocard
,
Eric Denarier
,
Nicole Monnier
,
France Piétri-Rouxel
et al.
Article dans une revue
inserm-00904818
v1
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The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Klaus Dieterich
,
Susana Quijano-Roy
,
Nicole Monnier
,
Jie Zhou
,
Julien Fauré
et al.
Article dans une revue
inserm-00904747
v1
|
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Role of triadin in the organization of reticulum membrane at the muscle triad.
Anne Fourest-Lieuvin
,
John Rendu
,
Alexis Osseni
,
Karine Pernet-Gallay
,
Daniella Rossi
et al.
Article dans une revue
inserm-00763148
v1
|
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Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
Nathalie Roux-Buisson
,
Marine Cacheux
,
Anne Fourest-Lieuvin
,
J. Fauconnier
,
Julie Brocard
et al.
Article dans une revue
inserm-00763211
v1
|
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Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.
Nathalie Roux-Buisson
,
John Rendu
,
Isabelle Denjoy
,
Pascale Guicheney
,
Alice Goldenberg
et al.
Article dans une revue
istex
inserm-00644146
v1
|
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Caveolin 3 is associated with the calcium release complex and is modified via in vivo triadin modification.
Stéphane Vassilopoulos
,
Sarah Oddoux
,
Séverine Groh
,
Marine Cacheux
,
Julien Fauré
et al.
Article dans une revue
inserm-00567166
v1
|
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Triadin deletion induces impaired skeletal muscle function.
Sarah Oddoux
,
Julie Brocard
,
Annie Schweitzer
,
Peter Szentesi
,
Benoit Giannesini
et al.
Article dans une revue
inserm-00516073
v1
|
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Triadin: what possible function 20 years later?
Isabelle Marty
,
Julien Fauré
,
Anne Fourest-Lieuvin
,
Stéphane Vassilopoulos
,
Sarah Oddoux
et al.
Article dans une revue
inserm-00410303
v1
|
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[Ryanodine receptor type 1: redox state matters]
Joël Lunardi
,
Julien Fauré
,
Isabelle Marty
,
Nicole Monnier
Médecine/Sciences, 2008, 24 (11), pp.897-9
Article dans une revue
inserm-00516977
v1
|
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The calcium release complex in skeletal muscle and its associated diseases
Julien Fauré
,
Sarah Oddoux
,
Isabelle Marty
,
Lunardi Joël
La Revue de Médecine Interne, 2007, 28 (11), pp.801-804
Article dans une revue
inserm-00535737
v1
|
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Exosomes are released by cultured cortical neurones.
Julien Fauré
,
Gaëlle Lachenal
,
Magali Court
,
Johannes Hirrlinger
,
Christine Chatellard-Causse
et al.
Article dans une revue
inserm-00393925
v1
|
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Tubulin tyrosination is a major factor affecting the recruitment of CAP-Gly proteins at microtubule plus ends.
Leticia Peris
,
Manuel Thery
,
Julien Fauré
,
Yasmina Saoudi
,
Laurence Lafanechère
et al.
Article dans une revue
inserm-00380096
v1
|
|
Endosome-to-cytosol transport of viral nucleocapsids.
Isabelle Le Blanc
,
Pierre-Philippe Luyet
,
Véronique Pons
,
Charles Ferguson
,
Neil Emans
et al.
Article dans une revue
inserm-00381829
v1
|
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Crystal structure of the Rac1-RhoGDI complex involved in nadph oxidase activation.
S. Grizot
,
J. Fauré
,
F. Fieschi
,
P. V. Vignais
,
M. C. Dagher
et al.
Biochemistry, 2001, 40 (34), pp.10007-13
Article dans une revue
hal-00820774
v1
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Small angle neutron scattering and gel filtration analyses of neutrophil NADPH oxidase cytosolic factors highlight the role of the C-terminal end of p47phox in the association with p40phox.
S. Grizot
,
N. Grandvaux
,
F. Fieschi
,
J. Fauré
,
C. Massenet
et al.
Biochemistry, 2001, 40 (10), pp.3127-33
Article dans une revue
hal-00820784
v1
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Interactions between Rho GTPases and Rho GDP dissociation inhibitor (Rho-GDI).
J. Fauré
,
M. C. Dagher
Biochimie, 2001, 83 (5), pp.409-14
Article dans une revue
hal-00820776
v1
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Mechanism of NADPH oxidase activation by the Rac/Rho-GDI complex.
N. Di-Poï
,
J. Fauré
,
S. Grizot
,
G. Molnár
,
E. Pick
et al.
Biochemistry, 2001, 40 (34), pp.10014-22
Article dans une revue
hal-00820772
v1
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Topological organization of the cytosolic activating complex of the superoxide-generating NADPH-oxidase. Pinpointing the sites of interaction between p47phoz, p67phox and p40phox using the two-hybrid system.
Alexandra Fuchs
,
M. C. Dagher
,
J. Fauré
,
P. V. Vignais
BBA - Biochimica et Biophysica Acta, 1996, 1312 (1), pp.39-47
Article dans une revue
hal-00820791
v1
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