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A peer-reviewed clinical and translational neurology open access journal
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Year
Year
-Year
2011
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2014
2015
2016
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2018
Clinical/Scientific Notes
Expanding the global prevalence of spinocerebellar ataxia type 42
Kathie
Ngo
,
Mamdouh
Aker
,
Lauren E.
Petty
, et al.
April 05, 2018
Clinical/Scientific Notes
WDR45
mutations may cause a
MECP2
mutation-negative Rett syndrome phenotype
Leonora
Kulikovskaja
,
Adrijan
Sarajlija
,
Dusanka
Savic-Pavicevic
, et al.
March 27, 2018
Article
Ataxia-telangiectasia
A new remitting form with a peculiar transcriptome signature
Vincenzo
Leuzzi
,
Daniela
D'Agnano
,
Michele
Menotta
, et al.
March 27, 2018
Article
Diagnostic odyssey of patients with mitochondrial disease
Results of a survey
Johnston
Grier
,
Michio
Hirano
,
Amel
Karaa
, et al.
March 26, 2018
Article
Truncating
SLC5A7
mutations underlie a spectrum of dominant hereditary motor neuropathies
Claire G.
Salter
,
Danique
Beijer
,
Holly
Hardy
, et al.
March 23, 2018
Clinical/Scientific Notes
Twenty-year-old African American woman with prion disease associated with the G114V
PRNP
variant
Jason
Margolesky
,
Mario
Saporta
March 22, 2018
Clinical/Scientific Notes
Mutation in the
GCH1
gene with dopa-responsive dystonia and phenotypic variability
Elsa
Krim
,
Jerome
Aupy
,
Fabienne
Clot
, et al.
March 22, 2018
Article
Rare
ABCA7
variants in 2 German families with Alzheimer disease
Patrick
May
,
Sabrina
Pichler
,
Daniela
Hartl
, et al.
March 21, 2018
Article
ACO2
homozygous missense mutation associated with complicated hereditary spastic paraplegia
Christian G.
Bouwkamp
,
Zaid
Afawi
,
Aviva
Fattal-Valevski
, et al.
March 21, 2018
Clinical/Scientific Notes
ACO2
mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
Cecilia
Marelli
,
Christian
Hamel
,
Melanie
Quiles
, et al.
March 20, 2018
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