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Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
Osorio Abath Neto
,
Cristiane de Araujo Martins Moreno
,
Edoardo Malfatti
,
Sandra Donkervoort
,
Johann Bohm
et al.
Journal articles
hal-01741730v1
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Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells.
Alexandre Chojnowski
,
Nicole Ravisé
,
Corinne Bachelin
,
Christel Depienne
,
Merle Ruberg
et al.
Journal articles
istex
hal-00143311v1
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The phosphoinositide kinase PIKfyve/Fab1p regulates terminal lysosome maturation in Caenorhabditis elegans.
Anne-Sophie Nicot
,
Hanna Fares
,
Bernard Payrastre
,
Andrew D Chisholm
,
Michel Labouesse
et al.
Journal articles
hal-00188084v1
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Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes
Aymen Rabai
,
Léa Reisser
,
Bernardo Reina-San-Martin
,
Kamel Mamchaoui
,
Belinda S. Cowling
et al.
Journal articles
hal-02438235v1
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BIN1/M-Amphiphysin2 induces clustering of phosphoinositides to recruit its downstream partner dynamin
Laura Picas
,
Julien Viaud
,
Kristine Schauer
,
Stefano Vanni
,
Karim Hnia
et al.
Journal articles
hal-02289097v1
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A dog model for centronuclear myopathy (CNM) carrying the most common DNM2 mutation
Johann Böhm
,
Inès Barthélémy
,
Charlène Landwerlin
,
Nicolas Blanchard-Gutton
,
Frédéric Relaix
et al.
Journal articles
hal-03613313v1
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Attitudes towards Genetic Information Delivered by High-Throughput Sequencing among Molecular Geneticists, Genetic Counselors, Medical Advisors and Students in France
Vlad Titerlea
,
Doulaye Dembélé
,
Jean-Louis Mandel
,
Jocelyn Laporte
Journal articles
hal-03664354v1
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Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation
Gilles Morin
,
Valérie Biancalana
,
Andoni Echaniz-Laguna
,
Jean-Baptiste Noury
,
Xavière Lornage
et al.
Journal articles
hal-03669762v1
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Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy
Anna Buj-Bello
,
Val�rie Biancalana
,
C�line Moutou
,
Jocelyn Laporte
,
Jean-Louis Mandel
et al.
Journal articles
istex
hal-03157883v1
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Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes
Roberto Silva-Rojas
,
Vasugi Nattarayan
,
Francisco Jaque-Fernandez
,
Raquel Gomez-Oca
,
Alexia Menuet
et al.
Journal articles
hal-03374920v1
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Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Gina L. O’grady
,
Heather A. Best
,
Tamar E. Sztal
,
Vanessa Schartner
,
Myriam Sanjuan-Vazquez
et al.
Journal articles
hal-02371579v1
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La myopathie à agrégats tubulaires et le syndrome de Stormorken
Johann Böhm
,
Jocelyn Laporte
Journal articles
hal-02984716v1
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Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy
Johann Böhm
,
Nasim Vasli
,
Marie Maurer
,
Belinda Cowling
,
G. Diane Shelton
et al.
Journal articles
hal-02647797v1
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A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1)
Petra Kioschis
,
Ute Rogner
,
Elke Pick
,
Sabine Klauck
,
Nina Heiss
et al.
Journal articles
hal-03831459v1
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Centronuclear (myotubular) myopathy.
Heinz Jungbluth
,
Carina Wallgren-Pettersson
,
Jocelyn Laporte
Journal articles
inserm-00350775v1
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Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation
Osorio Abath Neto
,
Carlos Heise
,
Cristiane de Araújo Martins Moreno
,
Eduardo de Paula Estephan
,
Lilia Mesrob
et al.
Journal articles
hal-03679178v1
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HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes
Andrés Berardo
,
Xavière Lornage
,
Mridul Johari
,
Teresinha Evangelista
,
Claudia Cejas
et al.
Journal articles
hal-03677809v1
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Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.
Leonela Amoasii
,
Karim Hnia
,
Gaëtan Chicanne
,
Andreas Brech
,
Belinda S Cowling
et al.
Journal articles
inserm-01012056v1
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WANTED – Dead or alive: Myotubularins, a large disease-associated protein family
Matthieu Raess
,
Sylvie Friant
,
Belinda S. Cowling
,
Jocelyn Laporte
Journal articles
hal-02378733v1
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MTM1 mutations in X-linked myotubular myopathy
Jocelyn Laporte
,
Val�rie Biancalana
,
Stephan Tanner
,
Wolfram Kress
,
Vreni Schneider
et al.
Journal articles
istex
hal-03156248v1
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Asymmetric muscle weakness due to ACTA1 mosaic mutations
Xaviére Lornage
,
Susana Quijano-Roy
,
Robert Yves Carlier
,
Nicole Monnier
,
Jean François Deleuze
et al.
Journal articles
hal-03109127v1
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Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.
Johann Böhm
,
Uluç Yiş
,
Ragip Ortaç
,
Handan Çakmakçi
,
Semra Hiz Kurul
et al.
Journal articles
inserm-00720867v1
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Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
Edoardo Malfatti
,
Vilma-Lotta Lehtokari
,
Johann Böhm
,
Josine de Winter
,
Ursula Schäffer
et al.
Journal articles
inserm-00987739v1
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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
et al.
Journal articles
hal-02332968v1
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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Hong Joo Kim
,
Payam Mohassel
,
Sandra Donkervoort
,
Lin Guo
,
Kevin O’donovan
et al.
Journal articles
hal-03864562v1
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Dementia in a child with myotubular myopathy.
Heather J. Mccrea
,
Christine Kretz
,
Jocelyn Laporte
,
Laura R. Ment
Journal articles
inserm-00420176v1
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An integrated diagnosis strategy for congenital myopathies.
Johann Böhm
,
Nasim Vasli
,
Edoardo Malfatti
,
Stéphanie Le Gras
,
Claire Feger
et al.
Journal articles
inserm-00904638v1
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Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation
M. Garibaldi
,
Johann Bohm
,
F. Fattori
,
Catherine Koch
,
C. Surace
et al.
Journal articles
hal-03680488v1
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Myotubularin lipid phosphatase binds the hVPS15/hVPS34 lipid kinase complex on endosomes.
Canhong Cao
,
Jocelyn Laporte
,
Jonathan M Backer
,
Angela Wandinger-Ness
,
Mary-Pat Stein
et al.
Journal articles
hal-00189162v1
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GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
A. Reghan Foley
,
Yaqun Zou
,
James E. Dunford
,
Jachinta Rooney
,
Goutam Chandra
et al.
Journal articles
hal-02938442v1
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