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Brain : a Journal of Neurology|April 23, 2021
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvementAdriana P Rebelo, Andrea Cortese, Amit Abraham, et al.Brain : a Journal of Neurology|August 20, 2025
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathyCamila Armirola-Ricaurte, Laura Morant, Isabelle Adant, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohortSarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.Neurology. Genetics|August 30, 2023
Frequency of GAA-<i>FGF14</i> Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar AtaxiaLuiz Eduardo Novis, Rodrigo S Frezatti, David Pellerin, et al.Biorxiv : the Preprint Server for Biology|July 10, 2023
A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locusDavid Pellerin, Giulia Del Gobbo, Madeline Couse, et al.American Journal of Human Genetics|April 5, 2016
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal NeuropathyAdriana P Rebelo, Alexander J Abrams, Ellen Cottenie, et al.Journal of Neurology|September 20, 2025
Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohortPablo Iruzubieta, David Pellerin, Catherine Ashton, et al.Neurology. Genetics|February 25, 2025
The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic ParaplegiaLuca Schierbaum, Vicente Quiroz, Kathryn Yang, et al.Journal of Neurology|March 2, 2025
Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patientsDavid Genís, Berta Alemany, David Pellerin, et al.European Journal of Neurology|October 19, 2022
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophySilvia Cipriani, Marta Guerrero-Valero, Stefano Tozza, et al.Pageof 15