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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
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Pascal Laforêt
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Marie de Antonio
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Guillaume Corre
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Barbara Perniconi
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et al.
Journal articles
hal-01404918v1
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Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy
Johann Böhm
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Frédéric Chevessier
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André Maues de Paula
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Catherine Koch
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Shahram Attarian
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et al.
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hal-01610022v1
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Efficient Bypass of Mutations in Dysferlin Deficient Patient Cells by Antisense-Induced Exon Skipping
Nicolas Wein
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Aurélie Avril
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Marc Bartoli
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Cyriaque Beley
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Soraya Chaouch
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et al.
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
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Marie de Antonio
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Dalil Hamroun
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Hugo Varet
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Marianne Fabbro
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et al.
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hal-01274908v1
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A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.
Maya Tchikviladzé
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Mylène Gilleron
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Thierry Maisonobe
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Damien Galanaud
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Pascal Laforêt
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et al.
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inserm-01067950v1
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Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies
Raquel Guimarães-Costa
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Gorka Fernández-Eulate
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Karim Wahbi
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France Leturcq
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Edoardo Malfatti
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et al.
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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
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Jana Haberlova
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Claudia Castiglioni
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John Vissing
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Francina Munell
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et al.
Journal articles
hal-03359688v1
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High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations
Julien Thevenon
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Gabriel Laurent
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Flavie Ader
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Pascal Laforêt
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Didier Klug
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et al.
Journal articles
hal-01444277v1
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FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis with Distinct Severity and Iron Regulation
Sebastián Montealegre
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Élise Lebigot
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Hugo Debruge
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Norma Beatriz Romero
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Bénédicte Héron
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et al.
Journal articles
hal-03604086v1
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Deep phenotyping of an international series of patients with late‐onset dysferlinopathy
Gorka Fernández-Eulate
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Giorgia Querin
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Ursula Moore
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Anthony Behin
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Marion Masingue
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et al.
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
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Robert Yves Carlier
,
Carmen Badosa
,
Caterina Marques
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et al.
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
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Héctor M Barragán-Campos
,
Jacques Chiras
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et al.
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
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Geoffroy Vellieux
,
Damien Sternberg
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Marie-Joséphine Fontenille
,
Elodie de Bruyckere
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et al.
Journal articles
hal-01653176v1
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The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.
Judith Fischer
,
Caroline Lefèvre
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Eva Morava
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Jean-Marie Mussini
,
Pascal Laforêt
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et al.
Journal articles
inserm-00409618v1
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Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.
Bruno Donadille
,
Pascal d'Anella
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Martine Auclair
,
Nancy Uhrhammer
,
Marc Sorel
,
et al.
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
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Nadia Venturelli
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Stéphane Vassilopoulos
,
Anthony Béhin
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et al.
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
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et al.
Journal articles
inserm-02446662v1
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Skeletal muscle metabolism during prolonged exercise in Pompe disease
Nicolai Preisler
,
Pascal Laforêt
,
Karen Lindhardt Madsen
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Edith Husu
,
Christoffer Rasmus Vissing
,
et al.
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.
Journal articles
hal-03673645v1
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Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA
Mohamed-Mounir El Mendili
,
Timothée Lenglet
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Tanya Stojkovic
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Anthony Behin
,
Raquel Guimarães-Costa
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et al.
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
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Anthony Béhin
,
Rabah Ben Yaou
,
France Leturcq
,
et al.
Journal articles
hal-03464423v1
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Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression
Patrice Vidal
,
Serena Pagliarani
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Pasqualina Colella
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Helena Costa Verdera
,
Louisa Jauze
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et al.
Journal articles
hal-02332988v1
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Systemic light chain amyloidosis myopathy responsive to daratumumab monotherapy
Diana Maria Chitimus
,
Édouard Berling
,
Laurent Garderet
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Nadia Venturelli
,
Edoardo Malfatti
,
et al.
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
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Marc Bartoli
,
Raul Juntas Morales
,
Damien Sternberg
,
et al.
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
Journal articles
hal-03156864v1
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