Publications by authors named "Pascal Cintas"

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REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France.
Lamiae Grimaldi, Rocio Garcia-Uzquiano, Marta Gomez-Garcia de la Banda, Amal Oulhissane-Omar, Celine Tard, Pascal Cintas

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, Pascal Cintas

Eur J Neurol· 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, Pascal Cintas

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 Cintas

Eur J Neurol· September 2025

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Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.
Pauline Jaubert, Camille Loret, Tanya Stojkovic, Shahram Attarian, Nathalie Bonello-Palot, Pascal Cintas

Eur J Neurol· August 2025

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Unmasking Anti-CASPR2 Syndrome in a Patient Treated for Myasthenia Gravis in the Era of New Treatments.
Vincent Fabry, Celso Rual, Chloé Bost, Blandine Acket, Julien Maquet, Pascal Cintas

Eur J Neurol· 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, Pascal Cintas

Eur J Hum Genet· June 2025

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Spectrum of Phenotypes in SMA Patients With 4 Copies in the French Population: Registre SMA France.
Lorène Gerin, Juliette Ropars, Rocío Garcia-Uzquiano, Marta Gómez-García De la Banda, Pascale Saugier-Veber, Pascal Cintas

Neurol Genet· April 2025

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Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study.
Yann Péréon, David Adams, Jean-Philippe Camdessanché, Jean-Baptiste Chanson, Pascal Cintas

Orphanet J Rare Dis· March 2025

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Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.
Luce Barbat du Closel, Nathalie Bonello-Palot, Emilien Delmont, Yann Péréon, Andoni Echaniz-Laguna, Pascal Cintas

Eur J Neurol· January 2025

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Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Julian Theuriet, Marion Masingue, Anthony Behin, Ana Ferreiro, Guillaume Bassez, Pascal Cintas

Brain· November 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, Pascal Cintas

Eur J Neurol· October 2024

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Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognition.
Vincent Huin, David Blum, Violette Delforge, Emeline Cailliau, Sofia Djeziri, Pascal Cintas

Neurobiol Dis· September 2024

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Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation.
Benedicte Alary, Pascal Cintas, Corentin Claude, Olivier Dellis, Corinne Thèze

Clin Immunol· August 2024

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Early Peripheral Nerve Involvement at the Time of Coughing in Patients With Intronic Expansion.
Simon Frachet, Pauline Chazelas, Laurent Magy, Pascal Cintas, Danielle Brouquières

Neurol Genet· August 2024

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Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.
Céline Tard, Françoise Bouhour, Maud Michaud, Stephane Beltran, Maxime Fournier, Pascal Cintas

Eur J Neurol· July 2024

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Assessment of whole-body muscle MRI for the early diagnosis of Amyotrophic Lateral Sclerosis.
Rokia El Khalfi, Estelle Maupoint, Hélène Chiavassa-Gandois, Céline Goumarre, Antoine Filliole, Pascal Cintas

Eur J Radiol· July 2024

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Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study.
Guillaume Fargeot, Andoni Echaniz-Laguna, Céline Labeyrie, Juliette Svahn, Jean-Philippe Camdessanché, Pascal Cintas

Amyloid· March 2024

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Long-term outcomes of paediatric Guillain-Barré syndrome.
Bastien Estublier, Hélène Colineaux, Catherine Arnaud, Pascal Cintas, Eloise Baudou

Dev Med Child Neurol· February 2024

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Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Emmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, Céline Tard, Jean-Baptiste Noury, Pascal Cintas

Orphanet J Rare Dis· January 2024

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The Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability.
Marion Onnée, Audrey Bénézit, Sultan Bastu, Aleksandra Nadaj-Pakleza, Béatrice Lannes, Pascal Cintas

Biomedicines· January 2024

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Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.
Luce Barbat du Closel, Nathalie Bonello-Palot, Yann Péréon, Andoni Echaniz-Laguna, Jean Philippe Camdessanche, Pascal Cintas

Eur J Neurol· October 2023

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Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.
Claire Lefeuvre, Marie De Antonio, Francoise Bouhour, Celine Tard, Emmanuelle Salort-Campana, Pascal Cintas

Neurology· August 2023

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Comparison between a novel helical and a posterior ankle-foot orthosis on gait in people with unilateral foot drop: a randomised crossover trial.
David Gasq, Raphaël Dumas, Benoit Caussé, Marino Scandella, Pascal Cintas

J Neuroeng Rehabil· May 2023

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Anti-disialosyl-immunoglobulin M chronic autoimmune neuropathies: a nationwide multicenter retrospective study.
Claire Peillet, David Adams, Shahram Attarian, Françoise Bouhour, Cécile Cauquil, Pascal Cintas

Eur J Neurol· December 2022

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