Latest Articles

Subject

Clinical/Scientific Notes
Everolimus does not prevent Lafora body formation in murine Lafora disease
Navin Mishra, Peixiang Wang, Danielle Goldsmith, et al.

January 09, 2017
Clinical/Scientific Notes
Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic
Patrick D. Nicholson, Stefan M. Pulst

January 05, 2017
Article
ABCA7 loss-of-function variants, expression, and neurologic disease risk
Mariet Allen, Sarah J. Lincoln, Morgane Corda, et al.

January 05, 2017
Article
Genetic architecture of age-related cognitive decline in African Americans
Towfique Raj, Lori B. Chibnik, Cristin McCabe, et al.

December 21, 2016
Article
Clinical and genetic study of hereditary spastic paraplegia in Canada
Nicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, et al.

December 05, 2016
Clinical/Scientific Notes
A novel WDR45 mutation in a patient with β-propeller protein-associated neurodegeneration
DonRaphael P. Wynn, Stefan M. Pulst

December 05, 2016
Clinical/Scientific Notes
Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy
Yuji Takahashi, Masahiro Kanai, Tomoya Taminato, et al.

November 21, 2016
Clinical/Scientific Notes
Phenotypic convergence of Menkes and Wilson disease
Boglarka Bansagi, David Lewis-Smith, Endre Pal, et al.

November 17, 2016
Clinical/Scientific Notes
Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic
Anne-Katrin Pröbstel, André Schaller, Johanna Lieb, et al.

November 17, 2016
Article
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy
Ilaria Guella, Linda Huh, Marna B. McKenzie, et al.

November 10, 2016

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