J. Laporte

发表

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation

E. Leshinsky‐Silver, D. Lev, S. Gras, 2012, Acta Neuropathologica.

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

N. Romero, L. Pasquier, S. Mercier, 2021, Acta neuropathologica communications.

Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies.

J. Böhm, J. Laporte, V. Schartner, 2019, Journal of neuromuscular diseases.

An Integrated Diagnosis Strategy for Congenital Myopathies

E. Malfatti, N. Romero, V. Biancalana, 2013, PloS one.

198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May – 2nd June 2013, Naarden, The Netherlands

C. Wallgren‐Pettersson, J. Laporte, H. Jungbluth, 2013, Neuromuscular Disorders.

Mutations in dynamin 2 cause dominant centronuclear myopathy

A. Beggs, N. Romero, H. Lochmüller, 2005, Nature Genetics.

Correlative light and electron microscopy: from live cell dynamic to 3D ultrastructure.

Yannick Schwab, J. Laporte, Y. Schwab, 2014, Methods in molecular biology.

Guidelines for the use and interpretation of assays formonitoring autophagy (3rd edition)

Sangeeta Khare, Xin Qi, Ying Wang, 2016 .

MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants

J. Thompson, K. Chennen, O. Poch, 2020, PloS one.

Developmental Alterations in Heart Biomechanics and Skeletal Muscle Function in Desmin Mutants Suggest an Early Pathological Root for Desminopathies.

Le A. Trinh, M. Liebling, N. Messaddeq, 2015, Cell reports.

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

L. Servais, I. Nelson, N. Romero, 2016, American journal of human genetics.

Next generation sequencing for molecular diagnosis of neuromuscular diseases Nasim VasliJohann BohmStephanie Le GrasJean MullerCecile PizotBernard Jost • Andoni Echaniz-LagunaVincent LaugelChristine TranchantRafaelle BernardFrederic Plewniak • Serge VicaireNicolas LevyJamel ChellyJean-Louis MandelVa

J. Chelly, J. Laporte, V. Laugel, 2012 .

Next generation sequencing for molecular diagnosis of neuromuscular diseases

Nasim Vasli, Jocelyn Laporte, Jean Muller, 2012, Acta Neuropathologica.

International workshop : 6 th workshop on centronuclear ( myotubular ) myopathies , 16 – 18 th January 2009 , Naarden , The Netherlands

C. Wallgren‐Pettersson, J. Laporte, H. Jungbluth, 2009 .

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

Shuling Guo, B. Monia, S. Booten, 2017, Nature Communications.

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

D. Figarella-Branger, N. Romero, J. Pouget, 2013, American journal of human genetics.

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene

E. Malfatti, N. Romero, Fengping Xu, 2014, Journal of Neurology Neurosurgery & Psychiatry.

Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis

V. Biancalana, J. Laporte, 2015, Journal of neuromuscular diseases.

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2021, medRxiv.

N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy

I. Nishino, J. Lainé, N. Romero, 2014, EMBO molecular medicine.

Endosomal Phosphoinositides and Human Diseases

J. Laporte, A. Nicot, 2008, Traffic.

Myotubularin Regulates the Function of the Late Endosome through the GRAM Domain-Phosphatidylinositol 3,5-Bisphosphate Interaction*

T. Takenawa, T. Ijuin, A. Shisheva, 2004, Journal of Biological Chemistry.

ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy

S. Coppens, E. Pierce-Hoffman, L. Servais, 2019, Annals of neurology.

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

A. Buj-Bello, A. Beggs, J. Mandel, 2009, Proceedings of the National Academy of Sciences.

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

E. Malfatti, N. Romero, J. Mandel, 2014, Brain : a journal of neurology.

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

N. Romero, E. Ricci, L. Morandi, 2014, Journal of Medical Genetics.

N. Romero, T. Evangelista, J. Laporte, 2019, Journal of Neurology.

Defective Membrane Remodeling in Neuromuscular Diseases: Insights from Animal Models

J. Laporte, J. Muller, B. Cowling, 2012, PLoS genetics.

Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system

J. Mandel, O. Dorchies, J. Warter, 2001, Neuromuscular Disorders.

ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)

E. Malfatti, L. Medne, C. Bönnemann, 2019, Acta Neuropathologica.

Silencing of the Charcot–Marie–Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells

M. Ruberg, C. Depienne, A. B. Evercooren, 2007, Neurobiology of Disease.

Primary T-tubule and autophagy defects in the phosphoinositide phosphatase Jumpy/MTMR14 knockout mice muscle.

L. Amoasii, N. Messaddeq, J. Böhm, 2012, Advances in biological regulation.

Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin‐proteasome pathways

J. Mandel, L. Amoasii, N. Messaddeq, 2013, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Centronuclear myopathies under attack: A plethora of therapeutic targets

J. Laporte, H. Tasfaout, B. Cowling, 2018, Journal of neuromuscular diseases.

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

I. Nelson, E. Malfatti, N. Romero, 2018, Journal of neuropathology and experimental neurology.

Hereditary myopathy with early respiratory failure: occurrence in various populations

F. Chapon, T. Raivio, J. Bueri, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

In vivo imaging of skeletal muscle in mice highlights muscle defects in a model of myotubular myopathy

Y. Lutz, M. Koch, J. Böhm, 2016, Intravital.

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3‐related type 1 pontocerebellar hypoplasia

E. Malfatti, N. Romero, E. Tizzano, 2018, Muscle & nerve.

A phosphoinositide conversion mechanism for exit from endosomes

V. Haucke, C. Schultz, M. Krauss, 2016, Nature.

X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers

A. Poustka, J. Mandel, J. Laporte, 1996, Human Genetics.

BIN1 recovers tauopathy-induced long-term memory deficits in mice and interacts with Tau through Thr348 phosphorylation

Y. Hérault, J. Lambert, P. Amouyel, 2018, bioRxiv.

IFN-β-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis

D. Metzger, J. Gottenberg, A. Echaniz-Laguna, 2017, Acta Neuropathologica.

Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: involvement of PtdIns(3)P in insulin-stimulated glucose transport.

E. Van Obberghen, L. Pirola, S. Rusconi, 2003, Molecular endocrinology.

Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.

F. Pilot-Storck, I. Barthélémy, S. Blot, 2017, The American journal of pathology.

1 PROGRESSIVE STRUCTURAL DEFECTS IN CANINE CENTRONUCLEAR MYOPATHY INDICATE A 1 ROLE FOR HACD 1 IN MAINTAINING SKELETAL MUSCLE MEMBRANE SYSTEMS 2 3

F. Pilot-Storck, Jordan, I. Barthélémy, 2016 .

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

M. Koch, S. Q. Mehdi, J. Mandel, 2012, European Journal of Human Genetics.

Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy

K. North, J. Böhm, J. Laporte, 2011, PloS one.

Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice

J. Böhm, J. Laporte, R. Silva-Rojas, 2022, International journal of molecular sciences.

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.

N. Messaddeq, P. Kessler, J. Böhm, 2019, Human molecular genetics.

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation

A. Echaniz-Laguna, C. Maurage, V. Biancalana, 2020, Human mutation.

Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome.

J. Böhm, J. Laporte, 2018, Cell calcium.

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

W. Newman, E. Malfatti, N. Romero, 2017, Human mutation.

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

Hala G. Zahreddine, A. Buj-Bello, J. Mandel, 2002, Proceedings of the National Academy of Sciences of the United States of America.

BIN1/Amphiphysin 2 and ezrin drive filopodia-like structures in myoblasts

F. Rico, P. Bassereau, B. Goud, 2022, bioRxiv.

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion

B. Brais, G. Blanco, E. Malfatti, 2017, Brain : a journal of neurology.

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

R. Ravazzolo, A. Brice, N. Birouk, 2003, American journal of human genetics.

Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy.

B. Payrastre, J. Laporte, A. Buj-Bello, 2016, Biochemical and biophysical research communications.

Detection of myotubularin phosphatases activity on phosphoinositides in vitro and ex vivo.

B. Payrastre, J. Laporte, Holger M. Rohde, 2009, Methods in molecular biology.

Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking.

E. Bedrick, J. Backer, A. Wandinger-Ness, 2008, Molecular biology of the cell.

Myotubularin Lipid Phosphatase Binds the hVPS15/hVPS34 Lipid Kinase Complex on Endosomes

J. Backer, A. Wandinger-Ness, J. Laporte, 2007, Traffic.

Production of Phosphatidylinositol 5-Phosphate by the Phosphoinositide 3-Phosphatase Myotubularin in Mammalian Cells*

L. Liaubet, L. Pirola, J. Mandel, 2004, Journal of Biological Chemistry.

Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP

M. Layton, P. Majerus, C. Mitchell, 2003, Proceedings of the National Academy of Sciences of the United States of America.

Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.

J. Mandel, D. Cohen, V. Biancalana, 1995, American journal of human genetics.

Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances

J. Laporte, B. Cowling, Raquel Gómez-Oca, 2021, International journal of molecular sciences.

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

L. Kunkel, J. Mickelson, A. Beggs, 2010, Proceedings of the National Academy of Sciences.

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

S. Mohammed, V. Biancalana, D. Ruddy, 2010, American journal of medical genetics. Part A.

Molecular Pathogenesis of Genetic and Inherited Diseases Increased Expression of Wild-Type or a Centronuclear Myopathy Mutant of Dynamin 2 in Skeletal Muscle of Adult Mice Leads to Structural Defects and Muscle Weakness

I. Nishino, J. Mandel, A. Ferry, 2011 .

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

Mark R. Marten, Erinna F. Lee, Dana L. Miller, 2021, Autophagy.

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

R. Finkel, K. Bushby, J. Jaiswal, 2020, Annals of neurology.

A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy

E. Malfatti, N. Romero, J. Böhm, 2015, Neuromuscular Disorders.

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

K. Pelin, V. Lehtokari, E. Malfatti, 2014, Acta neuropathologica communications.

Muscle histopathology in nebulin-related nemaline myopathy Malfatti

K. Pelin, V. Lehtokari, E. Malfatti, 2022 .

HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy

A. Boland, J. Deleuze, A. Echaniz-Laguna, 2017, Acta Neuropathologica.

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

Y. Hérault, K. Mathews, J. Dowling, 2019, Neuromuscular Disorders.

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

E. Malfatti, N. Romero, J. Rendu, 2019, Acta neuropathologica communications.

Confocal DIC image Confocal Lipid ring Lamellae Lipid tubes Side view Front view Glass coverslip Lipid ring Lamellae Flat membrane zone Before protein injection After protein injection Glass coverslip Flat membrane zone Lipid ring Lamellae Tubule zone Lipids

P. Bassereau, S. Vanni, B. Goud, 2014 .

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice

Y. Hérault, N. Romero, N. Messaddeq, 2019, Science Translational Medicine.

A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation

N. Romero, C. Birck, A. Echaniz-Laguna, 2020, Annals of neurology.

CXorf6 is a causative gene for hypospadias

G. Camerino, I. Nishino, T. Ogata, 2006, Nature Genetics.

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

D. Comas, N. Romero, N. Laing, 2018, Neurology.

Neuropsychiatric Lupus: the Neuroinflammatory Model

N. Messaddeq, P. Kessler, J. Böhm, 2019 .

T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases

J. Laporte, L. Al-Qusairi, 2011, Skeletal Muscle.

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.

Beryl B. Cummings, D. MacArthur, M. Lek, 2016, American journal of human genetics.

A dog model for centronuclear myopathy carrying the most common DNM2 mutation

I. Barthélémy, S. Blot, J. Böhm, 2022, Disease models & mechanisms.

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin

N. Romero, J. Laporte, C. Kretz, 2020, JCI insight.

Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders

J. Laporte, N. Vasli, 2013, Acta Neuropathologica.

Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations

C. Bönnemann, N. Romero, V. Biancalana, 2010, Neuromuscular Disorders.

Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy

B. Wuyam, J. Deleuze, V. Biancalana, 2021, Neurogenetics.

Phosphatase-Dead Myotubularin Ameliorates X-Linked Centronuclear Myopathy Phenotypes in Mice

B. Klaholz, B. Payrastre, A. Ferry, 2012, PLoS genetics.

Dihydropyridine receptor ( DHPR ) congenital myopathy

F. Muntoni, T. Pierson, E. Malfatti, 2018 .

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

F. Muntoni, T. Pierson, E. Malfatti, 2017, Acta Neuropathologica.

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.

N. Voermans, V. Biancalana, E. Kamsteeg, 2017, Journal of neuromuscular diseases.

The myotubularin–amphiphysin 2 complex in membrane tubulation and centronuclear myopathies

J. Laporte, Christos Gavriilidis, Barbara Royer, 2013, EMBO reports.

Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

J. Weis, W. Kress, J. Böhm, 2013, PLoS genetics.

Mutations in dynamin 2 cause dominant centronuclear myopathy.

A. Beggs, N. Romero, Hanns Lochmüller, 2005, Nature genetics.

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy

L. Decosterd, L. Scapozza, O. Dorchies, 2018, Nature Communications.

BIN1 modulation in vivo rescues dynamin-related myopathy

N. Messaddeq, P. Koebel, J. Laporte, 2022, Proceedings of the National Academy of Sciences of the United States of America.

Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model

J. Widrick, P. Agrawal, J. Laporte, 2022, JCI insight.

Antagonistic control of active surface integrins by myotubularin and phosphatidylinositol 3-kinase C2β in a myotubular myopathy model

V. Haucke, J. Laporte, M. Nazaré, 2022, Proceedings of the National Academy of Sciences of the United States of America.

Functional redundancy in the myotubularin family.

L. Liaubet, J. Mandel, B. Payrastre, 2002, Biochemical and biophysical research communications.

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

A. Laquérriere, N. Romero, R. Carlier, 2017, Acta Neuropathologica.

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.

N. Romero, A. Ferry, J. Laporte, 2014, The Journal of clinical investigation.

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

E. Malfatti, N. Romero, A. Echaniz-Laguna, 2019, Acta Neuropathologica Communications.

MAMLD1 (CXorf6): A New Gene Involved in Hypospadias

T. Ogata, J. Laporte, M. Fukami, 2009, Hormone Research in Paediatrics.

A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.

E. Zanoteli, U. Reed, A. Oliveira, 2016, Pediatric neurology.

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients

L. Mesrob, B. Banwell, E. Malfatti, 2017, Neuromuscular Disorders.

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

Arturo E. Hernandez, L. Servais, A. D’Amico, 2020, Molecular therapy. Methods & clinical development.

Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.

V. Lehtokari, E. Malfatti, N. Romero, 2015, European journal of medical genetics.

Mutation update for the ACTN2 gene

J. Böhm, J. Laporte, B. Udd, 2022, Human mutation.

Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy

M. Oulad-Abdelghani, N. Messaddeq, P. Koebel, 2022, Nature Communications.

Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy.

P. Koebel, J. Laporte, S. Buono, 2019, Human molecular genetics.

DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy

E. Zanoteli, U. Reed, G. Chadi, 2015, Genetics and molecular biology.

Clinical utility gene card for: Centronuclear and myotubular myopathies

A. Beggs, N. Romero, I. Nishino, 2012, European Journal of Human Genetics.

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

E. Stålberg, C. Wallgren‐Pettersson, H. Kalimo, 2010, Neuromuscular Disorders.

International workshop : 6 th workshop on centronuclear ( myotubular ) myopathies , 16 – 18 th January 2009 , Naarden , The Netherlands

C. Wallgren‐Pettersson, J. Laporte, H. Jungbluth, 2009 .

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation

J. Mandel, A. Echaniz-Laguna, V. Biancalana, 2007, Neuromuscular Disorders.

Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy

Shuling Guo, B. Monia, J. Matson, 2018, Proceedings of the National Academy of Sciences.

S. Coppens, L. Servais, N. Romero, 2022, Acta neuropathologica communications.

Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy

J. Deleuze, V. Biancalana, S. Saker, 2021, neurogenetics.

Desmin in muscle and associated diseases: beyond the structural function

J. Laporte, J. Vermot, Caroline Ramspacher, 2014, Cell and Tissue Research.

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

F. Muntoni, J. Dowling, K. Mills, 2009, Neuromuscular Disorders.

Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy

K. Mamchaoui, A. Ferry, S. Vassilopoulos, 2017, EMBO molecular medicine.

219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016

C. Bönnemann, A. Beggs, M. Gautel, 2017, Neuromuscular Disorders.

A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers.

N. Romero, G. Bassez, P. Carlier, 2020, Journal of neuropathology and experimental neurology.

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene

F. Chapon, E. Malfatti, N. Romero, 2013, Neuromuscular Disorders.

Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation

L. Mesrob, A. Boland, J. Deleuze, 2016, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

C. Wallgren‐Pettersson, J. Mandel, H. Kingston, 2007, Nature Genetics.

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

E. Malfatti, N. Romero, C. Birck, 2017, Acta Neuropathologica.

Distributed under Creative Commons Cc-by 4.0 Varank: a Simple and Powerful Tool for Ranking Genetic Variants

Véronique Geoffroy, Cécile Pizot, Claire Redin, 2022 .

The caveolin–cavin system plays a conserved and critical role in mechanoprotection of skeletal muscle

R. Parton, P. Pilch, M. Floetenmeyer, 2015, The Journal of cell biology.

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods

E. Malfatti, N. Romero, R. Carlier, 2017, Annals of neurology.

Therapeutic approaches in different congenital myopathies.

J. Laporte, C. Gineste, 2022, Current opinion in pharmacology.

PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATION

K. Claeys, N. Romero, R. Carlier, 2010, Neurology.

Orphanet Journal of Rare Diseases BioMed Central Review

C. Wallgren‐Pettersson, J. Laporte, H. Jungbluth, 2008 .

Asymmetric muscle weakness due to ACTA1 mosaic mutations

N. Romero, R. Carlier, J. Deleuze, 2020, Neurology.

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Jocelyn Laporte, K. Pelin, C. Saunders, 2014, Human mutation.

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

E. Malfatti, C. Ottenheijm, C. Bönnemann, 2020, American journal of human genetics.

Correction: Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

J. Weis, W. Kress, J. Böhm, 2013, PLoS Genetics.

PtdIns5P regulation through evolution: roles in membrane trafficking?

Olivier Poch, Jocelyn Laporte, Odile Lecompte, 2008, Trends in biochemical sciences.

STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases

J. Böhm, J. Laporte, R. Silva-Rojas, 2020, Frontiers in Physiology.

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

Nasim Vasli, Jocelyn Laporte, Alan H Beggs, 2013, Neurology.

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.

C. Cremers, M. Bitner-Glindzicz, H. Brunner, 1996, Human molecular genetics.

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

A. Poustka, J. Mandel, W. Kress, 1996, Human molecular genetics.

Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.

A. Poustka, J. Mandel, J. Laporte, 1997, Genomics.

Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology.

A. Bolino, J. Laporte, K. Hnia, 2012, Trends in molecular medicine.

The MTM1–UBQLN2–HSP complex mediates degradation of misfolded intermediate filaments in skeletal muscle

I. Sumara, L. Laredj, N. Messaddeq, 2018, Nature Cell Biology.

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2022, Nature Communications.

Integrative Data Mining Highlights Candidate Genes for Monogenic Myopathies

O. Pourquié, Olivier Tassy, E. Zanoteli, 2014, PloS one.

Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes

B. Reina-San-Martin, K. Mamchaoui, J. Laporte, 2019, Molecular therapy. Nucleic acids.

Mastermind-like Domain-containing 1 (MAMLD1 or CXorf6) Transactivates the Hes3 Promoter, Augments Testosterone Production, and Contains the SF1 Target Sequence*

T. Ogata, M. Kitagawa, K. Morohashi, 2008, Journal of Biological Chemistry.

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

A. Laquérriere, I. Nishino, D. Dembélé, 2011, Nature Medicine.

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

J. Mandel, E. Zanoteli, B. Payrastre, 2006, Human molecular genetics.

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.

A. Beggs, J. Mandel, P. Schultz, 2011, The Journal of clinical investigation.

PRENATAL DIAGNOSIS OF X‐LINKED MYOTUBULAR MYOPATHY: STRATEGIES USING NEW AND TIGHTLY LINKED DNA MARKERS

W. Kress, J. Laporte, N. Dahl, 1996, Prenatal diagnosis.

Extensive morphological and immunohistochemical characterization in myotubular myopathy

N. Romero, J. Hogrel, V. Biancalana, 2013, Brain and behavior.

MTM1 mutations in X‐linked myotubular myopathy

C. Wallgren‐Pettersson, J. Mandel, W. Kress, 2000, Human mutation.

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X‐linked myotubular myopathy

J. Mandel, C. Moutou, V. Biancalana, 1999, Human mutation.

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.

J. Mandel, J. Laporte, N. Dahl, 1998, Human molecular genetics.

Confirmation of prenatal diagnosis results of X‐linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene

J. Laporte, J. Laporte, S. M. Tanner, 1998, Human mutation.

A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

S. Klauck, A. Poustka, J. Mandel, 1996, Nature Genetics.

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

Jocelyn Laporte, J. Böhm, J. Laporte, 2010, Orphanet journal of rare diseases.

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.

Jocelyn Laporte, Jean-Louis Mandel, Alessandra Bolino, 2003, Human molecular genetics.

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.

J. Mandel, G. Butler-Browne, D. Furling, 2002, Human molecular genetics.

The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.

J. Vonesch, A. Gansmuller, J. Mandel, 2002, Journal of cell science.

Diagnosis of X‐linked myotubular myopathy by detection of myotubularin

J. Mandel, W. Kress, J. Laporte, 2001, Annals of neurology.

The myotubularin family: from genetic disease to phosphoinositide metabolism.

J. Mandel, J. Laporte, F. Blondeau, 2001, Trends in genetics : TIG.

Myotubularins and associated neuromuscular diseases

J. Laporte, B. Payrastre, A. Bolino, 2012 .

Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy

J. Mandel, J. Laporte, S. M. Tanner, 1998, European Journal of Human Genetics.

A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1).

S. Klauck, A. Poustka, B. Korn, 1996, Genomics.

Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies.

J. Thompson, O. Dorchies, J. Laporte, 2021, Molecular therapy : the journal of the American Society of Gene Therapy.

Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy

J. Mandel, E. Zanoteli, A. Oliveira, 2005, American journal of medical genetics. Part A.

Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

Jocelyn Laporte, Luciano Merlini, Christophe Béroud, 2012, Human mutation.

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

I. Nishino, C. Wallgren‐Pettersson, J. Mandel, 2011, Acta Neuropathologica.

Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice.

N. Messaddeq, P. Koebel, J. Laporte, 2018, Molecular therapy : the journal of the American Society of Gene Therapy.

Myotubularin phosphoinositide phosphatases in human diseases.

L. Amoasii, J. Laporte, K. Hnia, 2012, Current topics in microbiology and immunology.

Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype

V. Biancalana, J. Böhm, J. Laporte, 2012, European Journal of Human Genetics.

Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration

F. Pilot-Storck, A. Ferry, J. Laporte, 2020, Disease Models & Mechanisms.

Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration

F. Pilot-Storck, A. Ferry, J. Laporte, 2018, Disease Models & Mechanisms.

Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation

A. Roux, S. Friant, J. Laporte, 2017, The Journal of clinical investigation.

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

S. Friant, J. Laporte, B. Cowling, 2017, Advances in biological regulation.

Yeast as a simple eukaryotic model to study human diseases linked to membrane trafficking

S. Bär, S. Friant, J. Laporte, 2015, Cilia.

Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish

A. Beggs, L. Amoasii, J. Laporte, 2013, PLoS genetics.

Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo

B. Payrastre, A. Ferry, L. Amoasii, 2013, Journal of Cell Science.

The phosphoinositide phosphatase MTM-1 regulates apoptotic cell corpse clearance through CED-5–CED-12 in C. elegans

M. Hengartner, B. Payrastre, J. Laporte, 2011, Development.

Natural history study and statistical modeling of disease progression in a preclinical model of myotubular myopathy

J. Laporte, L. Thielemans, S. Buono, 2022, Disease models & mechanisms.

BIN1/M-Amphiphysin2 induces clustering of phosphoinositides to recruit its downstream partner dynamin

P. Bassereau, S. Vanni, B. Goud, 2014, Nature Communications.

[Tubular aggregate myopathy and Stormorken syndrome].

J. Böhm, J. Laporte, 2018, Medecine sciences : M/S.

Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA.

L. Bolund, X. Chen, J. Korenberg, 1999, Genomics.

Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome

J. Böhm, J. Laporte, C. Spiegelhalter, 2019, bioRxiv.

Amphiphysin 2 (BIN1) in physiology and diseases

Jocelyn Laporte, J. Laporte, B. Cowling, 2014, Journal of Molecular Medicine.

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

E. Malfatti, N. Romero, J. Rendu, 2019, Acta neuropathologica communications.

Control of autophagy initiation by phosphoinositide 3‐phosphatase jumpy

T. Proikas-Cezanne, V. Deretic, J. Laporte, 2009, The EMBO journal.

The phosphoinositide kinase PIKfyve/Fab1p regulates terminal lysosome maturation in Caenorhabditis elegans.

M. Labouesse, B. Payrastre, A. Chisholm, 2006, Molecular biology of the cell.

Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement

L. Mesrob, A. D’Amico, E. Malfatti, 2018, Muscle & nerve.

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

E. Malfatti, N. Romero, A. Echaniz-Laguna, 2019, Acta Neuropathologica Communications.

N. Romero, D. Mack, E. Zanoteli, 2020, Acta neuropathologica communications.

BIN1 genetic risk factor for Alzheimer is sufficient to induce early structural tract alterations in entorhinal cortex-dentate gyrus pathway and related hippocampal multi-scale impairments

Y. Hérault, P. Dutar, D. Le Bihan, 2018, bioRxiv.

Desmin in muscle and associated diseases: beyond the structural function

J. Laporte, J. Vermot, Caroline Ramspacher, 2015, Cell and Tissue Research.

NG.O.10 CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

E. Malfatti, M. Mora, J. Böhm, 2017, Neuromuscular Disorders.

Mis-regulation of the alternative splicing of BIN 1 is associated with T-tubule alterations and muscle weakness in myotonic dystrophy

Ylva, A. Laquérriere, I. Nishino, 2011 .

Amphiphysin 2 (BIN1) in physiology and diseases

J. Laporte, B. Cowling, I. Prokić, 2014, Journal of Molecular Medicine.

Tau phosphorylation regulates the interaction between BIN1’s SH3 domain and Tau’s proline-rich domain

J. Lambert, P. Amouyel, I. Landrieu, 2015, Acta neuropathologica communications.

BIN1 regulates actin-membrane interactions during IRSp53-dependent filopodia formation

F. Rico, P. Bassereau, B. Goud, 2023, bioRxiv.

BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes

C. Carlson, T. Tuomainen, J. P. Morth, 2023, Circulation research.

Affinity-ranking BIN1 interactions underpinning centronuclear myopathy

G. Travé, G. Gógl, L. Negroni, 2023, bioRxiv.

Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton.

M. Labouesse, N. Romero, J. Laporte, 2015, Developmental cell.

Affinity-ranking BIN1 interactions and screening natural BIN1 variants that may cause neuromuscular disorders

G. Travé, G. Gógl, L. Negroni, 2023 .

From Dynamic Live Cell Imaging to 3D Ultrastructure: Novel Integrated Methods for High Pressure Freezing and Correlative Light-Electron Microscopy

Jocelyn Laporte, Yannick Schwab, Marc Koch, 2010, PloS one.

Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.

A. Boland, J. Deleuze, P. Sabouraud, 2018, Journal of neuromuscular diseases.

Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A

E. Malfatti, N. Romero, A. Boland, 2017, Neurology.

Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure

J. Böhm, J. Laporte, B. Gény, 2021, Cells.

The MTM1–UBQLN2–HSP complex mediates degradation of misfolded intermediate filaments in skeletal muscle

I. Sumara, L. Laredj, N. Messaddeq, 2018, Nature Cell Biology.

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

E. Malfatti, N. Romero, V. Biancalana, 2018, Acta neuropathologica communications.

Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice

B. Vanhaesebroeck, B. Payrastre, J. Laporte, 2023, JCI insight.

Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.

N. Messaddeq, J. Laporte, C. Kretz, 2021, Molecular therapy : the journal of the American Society of Gene Therapy.

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.

E. Bertini, N. Romero, J. Böhm, 2016, Journal of neuromuscular diseases.

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.

E. Bertini, C. Wallgren‐Pettersson, J. Mandel, 1997, Human molecular genetics.

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.

G. Superti-Furga, J. Mandel, B. Payrastre, 2000, Human molecular genetics.

Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures

E. Malfatti, N. Romero, A. Boland, 2018, Journal of Medical Genetics.

P.251 Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy

N. Romero, B. Payrastre, P. Kessler, 2017, Neuromuscular Disorders.

DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy

J. Böhm, J. Laporte, Foteini Moschovaki Filippidou, 2023, Molecular therapy. Nucleic acids.

118th ENMC International Workshop on Advances in Myotubular Myopathy. 26–28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)

A. Musarò, L. Pirola, N. Romero, 2004, Neuromuscular Disorders.

Adult centronuclear myopathies: A hospital-based study.

J. Mandel, A. Echaniz-Laguna, V. Biancalana, 2013, Revue neurologique.

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

E. Stålberg, C. Wallgren‐Pettersson, H. Kalimo, 2010, Neuromuscular Disorders.

Guidelines for the use and interpretation of assays for monitoring autophagy

Robert Clarke, Hong Jiang, Hiroyuki Ishida, 2012 .

Tau phosphorylation regulates the interaction between BIN1’s SH3 domain and Tau’s proline-rich domain

J. Lambert, P. Amouyel, I. Landrieu, 2015, Acta Neuropathologica Communications.

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

L. Kunkel, J. Mickelson, A. Beggs, 2010, Proceedings of the National Academy of Sciences.

[Tubular aggregate myopathy and Stormorken syndrome].

J. Böhm, J. Laporte, Johann Böhm, 2018, Medecine sciences : M/S.

A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.

E. Zanoteli, U. Reed, A. Oliveira, 2016, Pediatric neurology.

Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.

L. Amoasii, J. Laporte, B. Cowling, 2011, The American journal of pathology.

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

F. Muntoni, J. Dowling, K. Mills, 2009, Neuromuscular Disorders.

Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy

Z. Dosztányi, G. Travé, G. Gógl, 2023, bioRxiv.

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

Arturo E. Hernandez, L. Servais, J. Laporte, 2020, Molecular therapy. Methods & clinical development.