Antoine Pégat

Selected Publications

• Is the decrement pattern in myasthenia gravis due to muscle-specific kinase antibodies different to that due to acetylcholine receptor antibodies? (2025) DOI
• Neuropathy in <scp>GAA</scp>‐<scp>FGF14</scp> Late‐Onset Cerebellar Ataxia (<scp>SCA27B</scp>): Prevalence and Characteristics (2025) DOI
• Neuropathies associées à une gammapathie IgM : quand il n’y a pas d’anti-MAG (2025) DOI
• Description of an alternative method for the electrodiagnostic evaluation of the sensory radial nerve (2025) DOI
• Demyelinating neuropathy as the initial presentation of familial <scp>E200K</scp> Creutzfeldt–Jakob disease in two patients (2025) DOI
• SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance (2024) DOI
• Spinal muscular atrophy is also a disorder of spermatogenesis (2024) DOI
• <i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort (2024) DOI
• Neuralgic amyotrophy presentation of acute intermittent porphyria: A case report (2024) DOI
• 113P Quality of life and participation of adults with spinal muscular atrophy: QOLSMA (2024) DOI
• Exploration électrophysiologique des pathologies de la jonction neuromusculaire (2024) DOI
• Diagnostic and prognostic biomarkers in immune checkpoint inhibitor-related encephalitis: a retrospective cohort study (2024) DOI
• Defining the landscape of TIA1 and SQSTM1 digenic myopathy (2024) DOI
• Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey (2024) DOI
• Identification of rare variants in the FBXO38 gene of patients with chronic inflammatory demyelinating polyradiculoneuropathy (2024) DOI

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