Latest Articles

Subject

Article
Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, et al.

October 24, 2018
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
MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles
Annabelle Chaussenot, Cécile Rouzier, Konstantina Fragaki, et al.

September 19, 2018

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