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The Journal of Molecular Diagnostics : JMD|May 25, 2018
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin GenesReda Zenagui, Delphine Lacourt, Henri Pegeot, et al.
European Journal of Neurology|October 27, 2025
Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective StudyDiana Maria Chitimus, Céline Tard, Maxime Fournier, et al.
Neurology|July 7, 2023
Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022Claire Lefeuvre, Marie De Antonio, Francoise Bouhour, et al.
Journal of Neuroimmunology|April 22, 2024
Corticospinal tract hyperintensity in patients with LGI1-antibody encephalitis and other central nervous system disorders with neuroglial antibodiesLucia Campetella, Macarena Villagrán-García, Antonio Farina, et al.
Neurology|January 20, 2019
Diagnostic accuracy of noncontrast CT imaging markers in cerebral venous thrombosisPieter-Jan Buyck, Susanna M Zuurbier, Carlos Garcia-Esperon, et al.
JAMA|March 10, 2025
High-Dose Vitamin D in Clinically Isolated Syndrome Typical of Multiple Sclerosis: The D-Lay MS Randomized Clinical TrialEric Thouvenot, David Laplaud, Christine Lebrun-Frenay, et al.
Brain : a Journal of Neurology|May 2, 2024
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosisJulian Theuriet, Marion Masingue, Anthony Behin, et al.
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