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A peer-reviewed clinical and translational neurology open access journal
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Article Type
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Introduction
The Helix
Views & Reviews
Views and Reviews
Year
Year
-Year
2011
2012
2013
2014
2015
2016
2017
2018
2019
2020
Clinical/Scientific Notes
Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy
Yuji
Takahashi
,
Masahiro
Kanai
,
Tomoya
Taminato
, et al.
November 21, 2016
Clinical/Scientific Notes
Phenotypic convergence of Menkes and Wilson disease
Boglarka
Bansagi
,
David
Lewis-Smith
,
Endre
Pal
, et al.
November 17, 2016
Clinical/Scientific Notes
Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic
Anne-Katrin
Pröbstel
,
André
Schaller
,
Johanna
Lieb
, et al.
November 17, 2016
Article
De novo
FGF12
mutation in 2 patients with neonatal-onset epilepsy
Ilaria
Guella
,
Linda
Huh
,
Marna B.
McKenzie
, et al.
November 10, 2016
Clinical/Scientific Notes
Copy number analysis reveals a novel multiexon deletion of the
COLQ
gene in congenital myasthenia
Wei
Wang
,
Yanhong
Wu
,
Chen
Wang
, et al.
October 31, 2016
Article
Novel
HSPB1
mutation causes both motor neuronopathy and distal myopathy
D.J.
Lewis-Smith
,
J.
Duff
,
A.
Pyle
, et al.
October 31, 2016
Article
Germline and somatic mutations in the
MTOR
gene in focal cortical dysplasia and epilepsy
Rikke S.
Møller
,
Sarah
Weckhuysen
,
Mathilde
Chipaux
, et al.
October 31, 2016
Clinical/Scientific Notes
FHF1 (FGF12) epileptic encephalopathy
Sameer
Al-Mehmadi
,
Miranda
Splitt
,
For DDD Study group
*
, et al.
October 28, 2016
Article
SORL1
mutations in early- and late-onset Alzheimer disease
Michael L.
Cuccaro
,
Regina M.
Carney
,
Yalun
Zhang
, et al.
October 26, 2016
The Helix
Helix: October 2016 issue
Stefan M.
Pulst
October 20, 2016
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