Publications by authors named "Pascal Laforet"

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Electrocardiogram vs Electrophysiological Study and Major Conduction Delays in Myotonic Dystrophy Type 1.
Nicolas Clementy, Fabien Labombarda, François Grolleau, Vincent Algalarrondo, Guillaume Bassez

JAMA Cardiol· November 2025

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Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.
Beatrice Labella, Guy Brochier, Maud Beuvin, Emmanuelle Lacene, Anais Chanut, Pascal Laforet

J Neuromuscul Dis· November 2025

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Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study.
Diana Maria Chitimus, Céline Tard, Maxime Fournier, Françoise Bouhour, Anthony Béhin

Eur J Neurol· October 2025

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Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database.
Alicia Le Bras, Pascale De Lonlay, Shahram Attarian, Anaïs Brassier, Isabelle Durand-Zaleski

Orphanet J Rare Dis· October 2025

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Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry.
Benoît Sanson, Abderhmane Slioui, Jérémy Garcia, Lori Klouvi, Julie Lejeune

Orphanet J Rare Dis· September 2025

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Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR).
Rémy Dumas, Anne-Sophie Jannot, Nabila Elarouci, Emmanuelle Salort-Campana, Lucie Pisella, Pascal Laforet

Eur J Neurol· September 2025

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Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL.
Hani Kushlaf, Jordi Díaz-Manera, Drago Bratkovic, Barry J Byrne, Kristl G Claeys

Muscle Nerve· August 2025

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A model to predict the 6-Minute Walk Distance in Pompe disease.
Audrey El Kaïm, Frédéric Fer, Valérie Decostre, Pascal Laforêt, Jean-Yves Hogrel

J Neuromuscul Dis· July 2025

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Characterization and Related Factors of Postural Control in Adults With Late-Onset Pompe Disease: Cross-Sectional and Case Control Study.
Théo Maulet, Thomas Cattagni, Sofiane Mahmoudi, Thomas Gandois, Fabien Dubois, Pascal Laforet

Phys Ther· July 2025

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SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.
Laurène Gérard, Mégane Delourme, Charlotte Tardy, Benjamin Ganne, Pierre Perrin

Eur J Hum Genet· June 2025

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278th ENMC International Workshop: European standards for harmonization of myasthenia gravis registries and emerging digital solutions. 20th-21st September 2024, Hoofddorp, The Netherlands.
Sabrina Sacconi, Fiammetta Vanoli, Frauke Stascheit, Elena Cortés-Vicente, Renato Mantegazza

Neuromuscul Disord· June 2025

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276th ENMC International Workshop: recommendations on optimal diagnostic pathway and management strategy for patients with acute rhabdomyolysis worldwide. 15th-17th March 2024, Hoofddorp, The Netherlands.
Nick Kruijt, Pascal Laforet, John Vissing, Salman Bhai, Mads Godtfeldt Stemmerik

Neuromuscul Disord· May 2025

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-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.
Marie Bahout, Gianmarco Severa, Emna Kamoun, Françoise Bouhour, Antoine Pegat

J Neurol Neurosurg Psychiatry· April 2025

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Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age.
Michela Bisciglia, Gianmarco Severa, Norma Beatriz Romero, Michel Fardeau, John Rendu

Eur J Neurol· April 2025

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Galectin-3: a novel biomarker of glycogen storage disease type III.
Lucille Rossiaud, Quentin Miagoux, Manon Benabides, Océane Reiss, Louisa Jauze

Cell Death Discov· April 2025

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Camptocormia as a feature of Mc Ardle's disease: A case report.
Mathilde Nicolas, Chloé Giret, Sybille Pellieux, Annick Toutain, Anne-Marie Bergemer-Fouquet

Mol Genet Metab Rep· March 2025

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Clinical insights in enzyme replacement therapy for metabolic storage disorders: lessons from Pompe disease.
Nadine A M E van der Beek, Maudy T M Theunissen, Johanna M P van den Hout, Wilhelmus W M Pijnappel, Benedikt Schoser

Lancet Neurol· March 2025

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Real-world evidence for Pompe disease remains fragmented. Comment on "A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem" by Klein et al.
Michelle E Kruijshaar, Tiffany House, Benedikt Schoser, Pascal Laforêt, Maudy T M Theunissen

Orphanet J Rare Dis· February 2025

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Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.
Apolline Imbard, Hortense de Calbiac, Edouard Le Guillou, Pascal Laforêt, Manuel Schiff

J Inherit Metab Dis· January 2025

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Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale.
Harmke A van Kooten, Mike C Horton, Stephan Wenninger, Haris Babačić, Benedikt Schoser

Eur J Neurol· December 2024

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Spinal muscular atrophy is also a disorder of spermatogenesis.
Armelle Magot, Arnaud Reignier, Olivier Binois, Anne Laure Bedat-Millet, Jean-Baptiste Davion, Pascal Laforet

Orphanet J Rare Dis· December 2024

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Diagnostic workup of rhabdomyolysis: Genetic testing should precede neurophysiological testing.
Nicol C Voermans, Salman Bhai, Pascal Laforet, John Vissing

Muscle Nerve· October 2024

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Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.
Emilie Retailleau, Claire Lefeuvre, Marie De Antonio, Françoise Bouhour, Celine Tard

Eur J Neurol· October 2024

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Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.
Benedikt Schoser, Nadine A M E van der Beek, Alexander Broomfield, Esther Brusse, Jordi Diaz-Manera, Pascal Laforet

Eur J Neurol· September 2024

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Real-world data of in-hospital administration of alglucosidase alfa in French patients with Pompe disease: results from the National Claims Database.
Shahram Attarian, Emmanuelle Salort Campana, Stanislas Perrier, Marion Afonso, Pierre Karam, Pascal Laforet

J Neurol· September 2024

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