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Brain : a Journal of Neurology|March 22, 2023
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural historyTyler Rehbein, Tong Tong Wu, Simona Treidler, et al.Journal of the Neurological Sciences|November 21, 2024
Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithmsGeorgios Koutsis, Chrisoula Kartanou, Zoi Kontogeorgiou, et al.Scientific Reports|November 17, 2022
Investigation of hypertension and type 2 diabetes as risk factors for dementia in the All of Us cohortShashwat Deepali Nagar, Priscilla Pemu, Jun Qian, et al.Journal of Neuromuscular Diseases|May 24, 2020
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional FamiliesYavuz Oktay, Serdal Güngör, Lena Zeltner, et al.Plos One|May 12, 2011
Comparison of three targeted enrichment strategies on the SOLiD sequencing platformDale J Hedges, Toumy Guettouche, Shan Yang, et al.Movement Disorders : Official Journal of the Movement Disorder Society|November 28, 2025
Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic ParaplegiaRui Zhu, Lang Liu, Mehrdad A Estiar, et al.Brain : a Journal of Neurology|March 27, 2016
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesionsPaola S Denora, Katrien Smets, Federica Zolfanelli, et al.Genome Research|March 20, 2025
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare diseaseTanner D Jensen, Bohan Ni, Chloe M Reuter, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2022
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron diseaseAdriana P Rebelo, Ariel Ruiz, Maike F Dohrn, et al.Journal of Inherited Metabolic Disease|January 8, 2026
MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in AdultsDaniele Mandia, Metodi D Metodiev, Jean-François Benoist, et al.Pageof 15