Most read article(s)

Article
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, et al.

December 03, 2018
Article
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations
Annalisa Vetro, Tiziana Pisano, Silvia Chiaro, et al.

January 02, 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
Mitochondrial diseases in North AmericaAn analysis of the NAMDC Registry
Emanuele Barca, Yuelin Long, Victoria Cooley, et al.

March 02, 2020
Article
Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34
Marie Beaudin, Leila Sellami, Christian Martel, et al.

February 20, 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
Views and Reviews
HSAN-VIA spectrum disorder based on dystonin isoform expression
Anisha Lynch-Godrei, Rashmi Kothary

January 02, 2020
Article
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism
Viorica Chelban, Miryam Carecchio, Gillian Rea, et al.

February 20, 2020
Article
Yield of comparative genomic hybridization microarray in pediatric neurology practice
Shibalik Misra, Greg Peters, Elizabeth Barnes, et al.

October 23, 2019
Article
Epilepsy with migrating focal seizuresKCNT1 mutation hotspots and phenotype variability
Giulia Barcia, Nicole Chemaly, Mathieu Kuchenbuch, et al.

October 25, 2019

Pages