Latest Articles

Subject

Clinical/Scientific Notes
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I
Federica Boso, Andrea Armirotti, Federica Taioli, et al.

October 08, 2019
Correction
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy
September 23, 2019
Clinical/Scientific Notes
Digital necrosis in an infant with severe spinal muscular atrophy
Diana Carrasco, Pilar Magoulas, Jennifer C. Scull, et al.

September 23, 2019
Article
A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation
Changrui Xiao, Elaine M. Binkley, Jessica Rexach, et al.

September 23, 2019
Article
Epidemiology of DYT1 dystoniaEstimating prevalence via genetic ascertainment
Joseph Park, Scott M. Damrauer, Aris Baras, et al.

September 13, 2019
Clinical/Scientific Notes
Enhancement of cranial nerves, conus medullaris, and nerve roots in POLG mitochondrial disease
Michael Bayat, Yousef Yavarian, Allan Bayat, et al.

September 09, 2019
Clinical/Scientific Notes
A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors
Hossein Darvish, Luis J. Azcona, Elham Alehabib, et al.

September 04, 2019
Article
Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia
Areej Mahjoub, Zuzana Cihlarova, Martine Tétreault, et al.

September 04, 2019
Article
Next-generation sequencing approach to hyperCKemiaA 2-year cohort study
Anna Rubegni, Alessandro Malandrini, Claudia Dosi, et al.

August 16, 2019
Correction
Genome-wide Brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease
August 15, 2019

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