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-Year
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Article
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a
MRE11
variant
Maryam
Sedghi
,
Mehri
Salari
,
Ali-Reza
Moslemi
, et al.
December 03, 2018
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 D
3
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
syndrome
From 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
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