Latest Articles

Subject

Clinical/Scientific Notes
Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy
F.N.U. Komal, Paolo M. Moretti, Aziz I. Shaibani

September 19, 2018
Clinical/Scientific Notes
AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria
Susana Carmona, Clara Marecos, Marta Amorim, et al.

September 19, 2018
Correction
Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)
September 19, 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
Clinical/Scientific Notes
CADASIL affecting a black African man
Louis Vlok, Naeem Brey

September 19, 2018
Clinical/Scientific Notes
GLRA1 mutation and long-term follow-up of the first hyperekplexia family
Martin Paucar, Josefine Waldthaler, Per Svenningsson

August 07, 2018
Article
Impaired transmissibility of atypical prions from genetic CJD^G114V
Ignazio Cali, Fadi Mikhail, Kefeng Qin, et al.

August 07, 2018
Article
Axon reflex–mediated vasodilation is reduced in proportion to disease severity in TTR-FAP
Irène Calero-Romero, Marc R. Suter, Bernard Waeber, et al.

August 03, 2018
Clinical/Scientific Notes
De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
Emma Ladds, Andrea Whitney, Eszter Dombi, et al.

August 03, 2018
Article
Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)
Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson, et al.

August 01, 2018

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