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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.
Neuromuscular Disorders, 2017, 27 (11), pp.975-985. ⟨10.1016/j.nmd.2017.05.016⟩
Journal articles hal-01741730v1

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.
Neurobiol Dis, 2007, 26 (2), pp.323-331. ⟨10.1016/j.nbd.2006.12.018⟩
Journal articles istex hal-00143311v1

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.
Molecular Biology of the Cell, 2006, 17 (7), pp.3062-74. ⟨10.1091/mbc.E06-12-1120⟩
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.
Molecular Therapy - Nucleic Acids, 2019, ⟨10.1016/j.omtn.2019.02.019⟩
Journal articles hal-02438235v1

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.
Nature Communications, 2014, 5 (1), pp.5647. ⟨10.1038/ncomms6647⟩
Journal articles hal-02289097v1

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.
Disease Models & Mechanisms, In press, ⟨10.1242/dmm.049219⟩
Journal articles hal-03613313v1

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
European Journal of Medical Genetics, 2020, 63 (4), ⟨10.1016/j.ejmg.2019.103770⟩
Journal articles hal-03664354v1

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.
Human Mutation, 2020, 41 (1), pp.17-37. ⟨10.1002/humu.23899⟩
Journal articles hal-03669762v1

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.
Molecular Therapy, 2021, ⟨10.1016/j.ymthe.2021.08.006⟩
Journal articles hal-03374920v1

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.
American Journal of Human Genetics, 2016, 99 (5), pp.1086-1105. ⟨10.1016/j.ajhg.2016.09.005⟩
Journal articles hal-02371579v1
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La myopathie à agrégats tubulaires et le syndrome de Stormorken

Johann Böhm , Jocelyn Laporte
médecine/sciences, 2018, 34, pp.26-31. ⟨10.1051/medsci/201834s208⟩
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.
PLoS Genetics, 2013, 9, online (6), Non paginé. ⟨10.1371/journal.pgen.1003430⟩
Journal articles hal-02647797v1

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.
Genomics, 1996, 33 (3), pp.365-373. ⟨10.1006/geno.1996.0212⟩
Journal articles hal-03831459v1
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Centronuclear (myotubular) myopathy.

Heinz Jungbluth , Carina Wallgren-Pettersson , Jocelyn Laporte
Orphanet Journal of Rare Diseases, 2008, 3, pp.26. ⟨10.1186/1750-1172-3-26⟩
Journal articles inserm-00350775v1

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.
Canadian Journal of Neurological Sciences, 2017, 44 (1), pp.125-127. ⟨10.1017/cjn.2016.322⟩
Journal articles hal-03679178v1

HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes

Andrés Berardo , Xavière Lornage , Mridul Johari , Teresinha Evangelista , Claudia Cejas et al.
Journal of Neurology, 2019, 266 (10), pp.2524-2534. ⟨10.1007/s00415-019-09437-3⟩
Journal articles hal-03677809v1

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 of Cell Science, 2013, 126 (Pt 8), pp.1806-19. ⟨10.1242/jcs.118505⟩
Journal articles inserm-01012056v1

WANTED – Dead or alive: Myotubularins, a large disease-associated protein family

Matthieu Raess , Sylvie Friant , Belinda S. Cowling , Jocelyn Laporte
Advances in Biological Regulation, 2017, 63, pp.49-58. ⟨10.1016/j.jbior.2016.09.001⟩
Journal articles hal-02378733v1

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

Asymmetric muscle weakness due to ACTA1 mosaic mutations

Xaviére Lornage , Susana Quijano-Roy , Robert Yves Carlier , Nicole Monnier , Jean François Deleuze et al.
Neurology, 2020, 95 (24), pp.e3406-e3411. ⟨10.1212/WNL.0000000000010947⟩
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.
Orphanet Journal of Rare Diseases, 2010, 5 (1), pp.35. ⟨10.1186/1750-1172-5-35⟩
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.
Acta Neuropathologica Communications, 2014, 2 (1), pp.44. ⟨10.1186/2051-5960-2-44⟩
Journal articles inserm-00987739v1

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 of Neuropathology and Experimental Neurology, 2018, 77 (12), pp.1101-1114. ⟨10.1093/jnen/nly095⟩
Journal articles hal-02332968v1

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.
Nature Communications, 2022, 13 (1), pp.2306. ⟨10.1038/s41467-022-30015-1⟩
Journal articles hal-03864562v1

Dementia in a child with myotubular myopathy.

Heather J. Mccrea , Christine Kretz , Jocelyn Laporte , Laura R. Ment
Pediatric Neurology, 2009, 40 (6), pp.483-5. ⟨10.1016/j.pediatrneurol.2009.01.005⟩
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.
PLoS ONE, 2013, 8 (6), pp.e67527. ⟨10.1371/journal.pone.0067527⟩
Journal articles inserm-00904638v1

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 of Neuromuscular Diseases, 2016, 3 (1), pp.111-114. ⟨10.3233/JND-150125⟩
Journal articles hal-03680488v1

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.
Traffic, 2007, 8 (8), pp.1052-67. ⟨10.1111/j.1600-0854.2007.00586.x⟩
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.
Annals of Neurology, 2020, 88 (2), pp.332-347. ⟨10.1002/ana.25772⟩
Journal articles hal-02938442v1