Latest Articles

Subject

Article
Children with 5′-end NF1 gene mutations are more likely to have glioma
Corina Anastasaki, Stephanie M. Morris, Feng Gao, et al.

September 22, 2017
Clinical/Scientific Notes
Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations
David S. Lynch, Samantha H.Y. Loh, Jasmine Harley, et al.

September 22, 2017
Clinical/Scientific Notes
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome
Rubina Dad, Susan Walker, Stephen W. Scherer, et al.

September 22, 2017
Article
IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy
Akihiko Ishiyama, Chika Sakai, Yuichi Matsushima, et al.

September 08, 2017
Clinical/Scientific Notes
Novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy
Aqeela Al-Hashim, Hernan D. Gonorazky, Kimberly Amburgey, et al.

August 24, 2017
Article
Ataxia-pancytopenia syndrome with SAMD9L mutations
Sorina Gorcenco, Jonna Komulainen-Ebrahim, Karin Nordborg, et al.

August 24, 2017
Article
Design and rationale for examining neuroimaging genetics in ischemic strokeThe MRI-GENIE study
Anne-Katrin Giese, Markus D. Schirmer, Kathleen L. Donahue, et al.

August 24, 2017
Article
Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease
Badri N. Vardarajan, Giuseppe Tosto, Roger Lefort, et al.

August 24, 2017
The Helix
What does phenotype have to do with it?
Stefan M. Pulst

August 17, 2017
Clinical/Scientific Notes
Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia
Yi Shiau Ng, Helen Powell, Nigel Hoggard, et al.

August 09, 2017

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