Latest Articles

Subject

Article
Genetic analysis of age at onset variation in spinocerebellar ataxia type 2
K.P. Figueroa, Hilary Coon, Nieves Santos, et al.

May 15, 2017
Article
HSP and deafnessNeurocristopathy caused by a novel mosaic SOX10 mutation
Sandra Donkervoort, Diana Bharucha-Goebel, Pomi Yun, et al.

May 15, 2017
Clinical/Scientific Notes
Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves
Elina Kari, Isabelle Schrauwen, Lorida Llaci, et al.

May 11, 2017
Clinical/Scientific Notes
Biallelic TOR1A variants in an infant with severe arthrogryposis
Sara Chadwick Reichert, Pedro Gonzalez-Alegre, Gunter H. Scharer

May 09, 2017
Article
Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes
Yoshiteru Azuma, Ana Töpf, Teresinha Evangelista, et al.

May 03, 2017
Article
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease
Enrico Bugiardini, Olivia V. Poole, Andreea Manole, et al.

May 02, 2017
Clinical/Scientific Notes
SCA8 should not be tested in isolation for ataxia
Ricardo H. Roda, Alice B. Schindler, Craig Blackstone

April 21, 2017
Article
African American exome sequencing identifies potential risk variants at Alzheimer disease loci
Aurelie N'Songo, Minerva M. Carrasquillo, Xue Wang, et al.

April 07, 2017
Clinical/Scientific Notes
Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls
Jens Reimann, Diana Lehmann, Steven A. Hardy, et al.

April 05, 2017
Introduction
Proceedings of the 19th and 20th International Stroke Genetics Consortium Workshops
Christopher D. Anderson, Giorgio Boncoraglio, Guido Falcone

March 30, 2017

Pages