Latest Articles

Subject

Article
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT
Dimitri M. Hemelsoet, Arnaud V. Vanlander, Joél Smet, et al.

November 28, 2018
Article
Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, et al.

November 26, 2018
Article
Anti-inflammatory effects of dietary vitamin D₃ in patients with multiple sclerosis
Reza Hashemi, Mohammad Morshedi, Mohammad Asghari Jafarabadi, et al.

November 14, 2018
Clinical/Scientific Notes
Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy
Yoko Ito, Taila Hartley, Stephen Baird, et al.

November 13, 2018
Article
TPP2 mutation associated with sterile brain inflammation mimicking MS
Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, et al.

November 13, 2018
Clinical/Scientific Notes
A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy
Nicolas N. Madigan, Jennifer A. Tracy, William J. Litchy, et al.

November 07, 2018
Article
Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
Nancy Vegas, Mara Cavallin, Camille Maillard, et al.

November 07, 2018
Article
Molecular pathogenesis of human CD59 deficiency
Netanel Karbian, Yael Eshed-Eisenbach, Adi Tabib, et al.

October 29, 2018
Clinical/Scientific Notes
Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation
Reem Deeb, Aravindhan Veerapandiyan, Rabi Tawil, et al.

October 25, 2018
Article
Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, et al.

October 24, 2018

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