Latest Articles
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- Clinical/Scientific NotesCentrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimicPatrick D. Nicholson, Stefan M. PulstJanuary 05, 2017
- ArticleABCA7 loss-of-function variants, expression, and neurologic disease riskMariet Allen, Sarah J. Lincoln, Morgane Corda, et al.January 05, 2017
- ArticleGenetic architecture of age-related cognitive decline in African AmericansTowfique Raj, Lori B. Chibnik, Cristin McCabe, et al.December 21, 2016
- ArticleClinical and genetic study of hereditary spastic paraplegia in CanadaNicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, et al.December 05, 2016
- Clinical/Scientific NotesA novel WDR45 mutation in a patient with β-propeller protein-associated neurodegenerationDonRaphael P. Wynn, Stefan M. PulstDecember 05, 2016
- Clinical/Scientific NotesCompound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathyYuji Takahashi, Masahiro Kanai, Tomoya Taminato, et al.November 21, 2016
- Clinical/Scientific NotesPhenotypic convergence of Menkes and Wilson diseaseBoglarka Bansagi, David Lewis-Smith, Endre Pal, et al.November 17, 2016
- Clinical/Scientific NotesMitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimicAnne-Katrin Pröbstel, André Schaller, Johanna Lieb, et al.November 17, 2016
- ArticleDe novo FGF12 mutation in 2 patients with neonatal-onset epilepsyIlaria Guella, Linda Huh, Marna B. McKenzie, et al.November 10, 2016
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Dr. Daniel Friedman and Dr. Sharon Chiang