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Views & Reviews
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Year
Year
-Year
2011
2012
2013
2014
2015
2016
2017
2018
2019
2020
Article
Neuraxial dysraphism in
EPAS1-
associated syndrome due to improper mesenchymal transition
Jared S.
Rosenblum
,
Anthony J.
Cappadona
,
Davis P.
Argersinger
, et al.
April 01, 2020
Article
Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation
Annemarie C.S.
Knijnenburg
,
Joost
Nicolai
,
Levinus A.
Bok
, et al.
April 01, 2020
Article
Polygenic risk scores of several subtypes of epilepsies in a founder population
Claudia
Moreau
,
Rose-Marie
Rébillard
,
Stefan
Wolking
, et al.
March 27, 2020
Article
Clinical and pathologic phenotype of a large family with heterozygous
STUB1
mutation
Merel O.
Mol
,
Jeroen G.J.
van Rooij
,
Esther
Brusse
, et al.
March 23, 2020
Article
Neurologic outcomes in Friedreich ataxia
Study of a single-site cohort
Massimo
Pandolfo
March 20, 2020
Correction
Heritability of cervical spinal cord structure
March 18, 2020
Clinical/Scientific Notes
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA
Gly
(
MT-TG
) variant
Olivia V.
Poole
,
Alejandro
Horga
,
Steven A.
Hardy
, et al.
March 18, 2020
Article
Molecular diagnosis of muscular diseases in outpatient clinics
A Canadian perspective
Fanny
Thuriot
,
Elaine
Gravel
,
Caroline
Buote
, et al.
March 13, 2020
Article
Hereditary cerebral amyloid angiopathy, Piedmont-type mutation
Mariel G.
Kozberg
,
Susanne J.
van Veluw
,
Matthew P.
Frosch
, et al.
March 13, 2020
Clinical/Scientific Notes
4H leukodystrophy
Mild clinical phenotype and comorbidity with multiple sclerosis
Stephanie M.
DeGasperis
,
Geneviève
Bernard
,
Nicole I.
Wolf
, et al.
March 11, 2020
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