Latest Articles

Subject

Article
Biallelic mutation of HSD17B4 induces middle age–onset spinocerebellar ataxia
Yukiko Matsuda, Hiroyuki Morino, Ryosuke Miyamoto, et al.

January 16, 2020
Article
Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort
Jennifer Roggenbuck, Marilly Palettas, Leah Vicini, et al.

January 13, 2020
Article
Delineating MT-ATP6-associated diseaseFrom isolated neuropathy to early onset neurodegeneration
Claudia Stendel, Christiane Neuhofer, Elisa Floride, et al.

January 13, 2020
Article
Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis
Julia L. Keith, Emily Swinkin, Andrew Gao, et al.

January 13, 2020
Editorial
Splitting vs lumpingDoes the phenotype matter anymore?
Steven Pavlakis

January 13, 2020
Article
COL4A1-related autosomal recessive encephalopathy in 2 Turkish children
Ahmet Yaramis, Hanns Lochmüller, Ana Töpf, et al.

January 10, 2020
Article
Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO
Carola Hedberg-Oldfors, Bertil Macao, Swaraj Basu, et al.

January 10, 2020
Article
Analysis of common and rare VPS13C variants in late-onset Parkinson disease
Uladzislau Rudakou, Jennifer A. Ruskey, Lynne Krohn, et al.

January 09, 2020
Article
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
Enrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.

January 08, 2020
Article
Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy
Renske I. Wadman, Marc D. Jansen, Chantall A.D. Curial, et al.

January 03, 2020

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