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A peer-reviewed clinical and translational neurology open access journal
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Year
Year
-Year
2011
2012
2013
2014
2015
2016
2017
2018
Clinical/Scientific Notes
Homozygous
CAPN1
mutations causing a spastic-ataxia phenotype in 2 families
Cemile
Kocoglu
,
Asli
Gundogdu
,
Gulsen
Kocaman
, et al.
January 18, 2018
Article
Germline and somatic mutations in
STXBP1
with diverse neurodevelopmental phenotypes
Mohammed
Uddin
,
Marc
Woodbury-Smith
,
Ada
Chan
, et al.
December 18, 2017
Article
Clinical heterogeneity and phenotype/genotype findings in 5 families with
GYG1
deficiency
Rabah
Ben Yaou
,
Aurélie
Hubert
,
Isabelle
Nelson
, et al.
December 18, 2017
Clinical/Scientific Notes
Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia
Ewen W.
Sommerville
,
Rachel L.
Jones
,
Steven A.
Hardy
, et al.
December 15, 2017
Article
CDKL5
variants
Improving our understanding of a rare neurologic disorder
Ralph D.
Hector
,
Vera M.
Kalscheuer
,
Friederike
Hennig
, et al.
December 15, 2017
Article
Na
V
channel variants in patients with painful and nonpainful peripheral neuropathy
Samir
Wadhawan
,
Saumya
Pant
,
Ryan
Golhar
, et al.
December 15, 2017
Article
Factors influencing the age at onset in familial frontotemporal lobar dementia
Important weight of genetics
Mathieu
Barbier
,
Agnès
Camuzat
,
Marion
Houot
, et al.
December 14, 2017
Article
Characterization of a
KCNB1
variant associated with autism, intellectual disability, and epilepsy
Jeffrey D.
Calhoun
,
Carlos G.
Vanoye
,
Fernando
Kok
, et al.
December 12, 2017
Article
Copy number variation analysis increases the diagnostic yield in muscle diseases
Salla
Välipakka
,
Marco
Savarese
,
Mridul
Johari
, et al.
December 12, 2017
Clinical/Scientific Notes
Novel
NDUFS4
gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia
Celine
Bris
,
Tiphaine
Rouaud
,
Valerie
Desquiret-Dumas
, et al.
December 12, 2017
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