Last Updated: 09/26/2026
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Found 45 publications
The genetics of autosomal recessive ALS: a review of the common forms and their phenotypes.
Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration
Published: January 27, 2026
Revisiting the link between oropharyngeal dysphagia and cancer in autoimmune myositis: a descriptive study.
Journal: Arthritis research & therapy
Published: July 01, 2025
Beyond the Heart: Exploring Extracardiac Manifestations in Cardiac Amyloidosis for Early Diagnosis.
Journal: Current cardiology reports
Published: June 11, 2025
Is sweat conductivity still a relevant screening test for cystic fibrosis? Participation over 10 years.
Journal: Clinical chemistry and laboratory medicine
Published: August 07, 2024
Charcot and recent French cinema.
Journal: Journal of the history of the neurosciences
Published: June 10, 2024
An adult patient with Tatton-Brown-Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy.
Journal: American journal of medical genetics. Part A
Published: April 27, 2023
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
Journal: The New England journal of medicine
Published: December 14, 2022
Myositis with prominent B cell aggregates may meet classification criteria for sporadic inclusion body myositis.
Journal: Neuromuscular disorders : NMD
Published: August 17, 2022
The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders.
Journal: Frontiers in neurology
Published: April 25, 2022
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Journal: Human molecular genetics
Published: April 01, 2022
Last Updated: 09/26/2026