Latest Articles

Subject

Article
Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype
Nataly I. Montes-Chinea, Zhuo Guan, Marcella Coutts, et al.

October 22, 2018
Clinical/Scientific Notes
Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia
Maya Tojima, Gaku Murakami, Rie Hikawa, et al.

October 16, 2018
Article
Plasticity-related gene 3 (LPPR1) and age at diagnosis of Parkinson disease
Zachary D. Wallen, Honglei Chen, Erin M. Hill-Burns, et al.

October 05, 2018
Article
Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction
Richard G. Lee, Maryam Sedghi, Mehri Salari, et al.

October 05, 2018
Article
Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset
Sarah L. Gardiner, Chiara Milanese, Merel W. Boogaard, et al.

October 04, 2018
Article
Increased KCNJ18 promoter activity as a mechanism in atypical normokalemic periodic paralysis
Muhidien Soufi, Volker Ruppert, Susanne Rinné, et al.

October 03, 2018
Article
Protein network analysis reveals selectively vulnerable regions and biological processes in FTD
Luke W. Bonham, Natasha Z.R. Steele, Celeste M. Karch, et al.

October 01, 2018
Article
Genetic landscape of pediatric movement disorders and management implications
Dawn Cordeiro, Garrett Bullivant, Komudi Siriwardena, et al.

September 26, 2018
Clinical/Scientific Notes
DRESS after IV phenytoin associated with cytochrome P450 CYP2C9*3 homozygosity
Mette S. Nissen, Christoph P. Beier

September 19, 2018
Clinical/Scientific Notes
Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression
Christine K. Sloth, Federico Denti, Nicole Schmitt, et al.

September 19, 2018

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