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authFullName_s : Pascal Laforêt
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Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients

Elisa Masat , Pascal Laforêt , Marie de Antonio , Guillaume Corre , Barbara Perniconi , et al.
Scientific Reports, 2016, 6, pp.36182. ⟨10.1038/srep36182⟩
Journal articles hal-01404918v1
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Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Johann Böhm , Frédéric Chevessier , André Maues de Paula , Catherine Koch , Shahram Attarian , et al.
American Journal of Human Genetics, 2013, 92 (2), pp.271-278. ⟨10.1016/j.ajhg.2012.12.007⟩
Journal articles hal-01610022v1
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Efficient Bypass of Mutations in Dysferlin Deficient Patient Cells by Antisense-Induced Exon Skipping

Nicolas Wein , Aurélie Avril , Marc Bartoli , Cyriaque Beley , Soraya Chaouch , et al.
Human Mutation, 2010, 31 (2), pp.136-142. ⟨10.1002/humu.21160⟩
Journal articles hal-01610031v1
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Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

Celine Dogan , Marie de Antonio , Dalil Hamroun , Hugo Varet , Marianne Fabbro , et al.
PLoS ONE, 2016, 11 (2), pp.e0148264. ⟨10.1371/journal.pone.0148264⟩
Journal articles hal-01274908v1
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A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.

Maya Tchikviladzé , Mylène Gilleron , Thierry Maisonobe , Damien Galanaud , Pascal Laforêt , et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2015, 86 (6), pp.646-54. ⟨10.1136/jnnp-2013-306799⟩
Journal articles inserm-01067950v1
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Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies

Raquel Guimarães-Costa , Gorka Fernández-Eulate , Karim Wahbi , France Leturcq , Edoardo Malfatti , et al.
European Journal of Neurology, 2021, 28 (2), pp.660-669. ⟨10.1111/ene.14592⟩
Journal articles hal-03141476v2
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Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

Susana Quijano-Roy , Jana Haberlova , Claudia Castiglioni , John Vissing , Francina Munell , et al.
Journal of Neurology, In press, ⟨10.1007/s00415-021-10806-0⟩
Journal articles hal-03359688v1

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations

Julien Thevenon , Gabriel Laurent , Flavie Ader , Pascal Laforêt , Didier Klug , et al.
EP-Europace, 2017, 19 (4), pp.651-659. ⟨10.1093/europace/euw067⟩
Journal articles hal-01444277v1
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FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis with Distinct Severity and Iron Regulation

Sebastián Montealegre , Élise Lebigot , Hugo Debruge , Norma Beatriz Romero , Bénédicte Héron , et al.
Neurology Genetics, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩
Journal articles hal-03604086v1
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Deep phenotyping of an international series of patients with late‐onset dysferlinopathy

Gorka Fernández-Eulate , Giorgia Querin , Ursula Moore , Anthony Behin , Marion Masingue , et al.
European Journal of Neurology, 2021, 28 (6), pp.2092-2102. ⟨10.1111/ene.14821⟩
Journal articles hal-03263341v1
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Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness

Marion Brisset , Corinne Metay , Robert Yves Carlier , Carmen Badosa , Caterina Marques , et al.
Neuromuscular Disorders, 2020, 30 (10), pp.833-838. ⟨10.1016/j.nmd.2020.09.002⟩
Journal articles hal-02984261v1
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Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy

Dirk Fischer , Muriel Herasse , Marc Bitoun , Héctor M Barragán-Campos , Jacques Chiras , et al.
Brain - A Journal of Neurology , 2006, 129 (6), pp.1463-1469. ⟨10.1093/brain/awl071⟩
Journal articles inserm-02446672v1
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Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

Stéphanie Bauché , Geoffroy Vellieux , Damien Sternberg , Marie-Joséphine Fontenille , Elodie de Bruyckere , et al.
Journal of Neurology, 2017, 264 (8), pp.1791-1803. ⟨10.1007/s00415-017-8569-x⟩
Journal articles hal-01653176v1

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

Judith Fischer , Caroline Lefèvre , Eva Morava , Jean-Marie Mussini , Pascal Laforêt , et al.
Nature Genetics, 2007, 39 (1), pp.28-30. ⟨10.1038/ng1951⟩
Journal articles inserm-00409618v1
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Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.

Bruno Donadille , Pascal d'Anella , Martine Auclair , Nancy Uhrhammer , Marc Sorel , et al.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.106. ⟨10.1186/1750-1172-8-106⟩
Journal articles inserm-00847200v1
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Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort

Édouard Berling , Camille Verebi , Nadia Venturelli , Stéphane Vassilopoulos , Anthony Béhin , et al.
European Journal of Neurology, 2023, 30 (8), pp.2506-2517. ⟨10.1111/ene.15832⟩
Journal articles hal-04190879v1
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Mutations in dynamin 2 cause dominant Centronuclear Myopathy

Marc Bitoun , Svetlana Maugenre , Pierre-Yves Jeannet , Emmanuelle Lacène , Xavier Ferrer , et al.
Nature Genetics, 2005, 37 (11), pp.1207-1209. ⟨10.1038/ng1657⟩
Journal articles inserm-02446662v1
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Skeletal muscle metabolism during prolonged exercise in Pompe disease

Nicolai Preisler , Pascal Laforêt , Karen Lindhardt Madsen , Edith Husu , Christoffer Rasmus Vissing , et al.
Endocrine Connections, 2017, 6 (6), pp.384-394. ⟨10.1530/EC-17-0042⟩
Journal articles hal-01617884v1
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No effect of triheptanoin in patients with phosphofructokinase deficiency

Daniel Emil Tadeusz Raaschou-Pedersen , Karen Lindhardt Madsen , Nicoline Løkken , Jesper Helbo Storgaard , Ros C.M. Quinlivan , et al.
Neuromuscular Disorders, 2022, 32 (4), pp.295-304. ⟨10.1016/j.nmd.2022.01.012⟩
Journal articles hal-03673645v1
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Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

Mohamed-Mounir El Mendili , Timothée Lenglet , Tanya Stojkovic , Anthony Behin , Raquel Guimarães-Costa , et al.
PLoS ONE, 2016, 11 (4), pp.e0152439. ⟨10.1371/journal.pone.0152439⟩
Journal articles hal-01304374v1
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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 , et al.
Journal of Neuromuscular Diseases, 2021, 8 (4), pp.495 - 502. ⟨10.3233/jnd-200620⟩
Journal articles hal-03464423v1

Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression

Patrice Vidal , Serena Pagliarani , Pasqualina Colella , Helena Costa Verdera , Louisa Jauze , et al.
Molecular Therapy, 2018, 26 (3), pp.890-901. ⟨10.1016/j.ymthe.2017.12.019⟩
Journal articles hal-02332988v1
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Systemic light chain amyloidosis myopathy responsive to daratumumab monotherapy

Diana Maria Chitimus , Édouard Berling , Laurent Garderet , Nadia Venturelli , Edoardo Malfatti , et al.
European Journal of Neurology, 2023, 30 (3), pp.745-748. ⟨10.1111/ene.15640⟩
Journal articles hal-04122462v1
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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

Maude Vecten , Emmanuelle Pion , Marc Bartoli , Raul Juntas Morales , Damien Sternberg , et al.
International Journal of Molecular Sciences, 2022, 23 (15), pp.8506. ⟨10.3390/ijms23158506⟩
Journal articles hal-03751530v1
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Sarcoglycanopathies: state of the art and therapeutic perspectives

Gorka Fernández-Eulate , France Leturcq , Pascal Laforêt , Isabelle Richard , Tanya Stojkovic
Médecine/Sciences, 2020, 36, pp.22-27. ⟨10.1051/medsci/2020243⟩
Journal articles hal-03156864v1