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Neurology. Genetics|June 26, 2020
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophyStefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco, et al.
Neurology. Genetics|May 11, 2023
Metabolic Stroke as a Clinical Manifestation of Zhu-Tokita-Takenouchi-Kim Syndrome: A Case SeriesAngie El-Said, Jorge Luis Morales, Gian Rossi, et al.
Neurology. Genetics|July 9, 2020
Genetic background of ataxia in children younger than 5 years in FinlandErika Ignatius, Pirjo Isohanni, Max Pohjanpelto, et al.
Neurology. Genetics|August 11, 2022
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar AtaxiaFlavia Palombo, Chiara La Morgia, Claudio Fiorini, et al.
Neurology. Genetics|September 17, 2021
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus TriplicationLou Grangeon, Kévin Cassinari, Stéphane Rousseau, et al.
Neurology. Genetics|August 4, 2022
Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral SclerosisJay P Ross, Fulya Akçimen, Calwing Liao, et al.
Neurology. Genetics|May 12, 2021
Trigeminal Neuralgia TRPM8 Mutation: Enhanced Activation, Basal [Ca2+]i and Menthol ResponseRoberta Gualdani, Jun-Hui Yuan, Philip R Effraim, et al.
Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, et al.
Neurology. Genetics|August 11, 2021
Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1Karin S Walsh, Pamela L Wolters, Brigitte C Widemann, et al.
Neurology. Genetics|August 13, 2021
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial WeaknessMarco Savarese, Anna Vihola, Manu E Jokela, et al.
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