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Views & Reviews
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Year
Year
-Year
2011
2012
2013
2014
2015
2016
2017
2018
2019
Clinical/Scientific Notes
Leaky splicing variant in sepiapterin reductase deficiency
Are milder cases escaping diagnosis?
Yu
Nakagama
,
Kohei
Hamanaka
,
Masakazu
Mimaki
, et al.
March 25, 2019
Article
Somatic expansion of the
C9orf72
hexanucleotide repeat does not occur in ALS spinal cord tissues
Jay P.
Ross
,
Claire S.
Leblond
,
Hélène
Catoire
, et al.
March 20, 2019
Editorial
Unraveling the genetic complexity of Alzheimer disease with Mendelian Randomization
Sara
Bandres-Ciga
,
Faraz
Faghri
March 07, 2019
Article
Homozygous
TRPV4
mutation causes congenital distal spinal muscular atrophy and arthrogryposis
Jose
Velilla
,
Michael Mario
Marchetti
,
Agnes
Toth-Petroczy
, et al.
March 07, 2019
Clinical/Scientific Notes
M
itochondrial
c
erebellar
a
taxia,
r
enal failure,
n
europathy, and
e
ncephalopathy (MCARNE)
Peng Soon
Ng
,
Marcus V.
Pinto
,
Jadee L.
Neff
, et al.
March 06, 2019
Article
Clinical, genetic, and pathologic characterization of
FKRP
Mexican founder mutation c.1387A>G
Angela J.
Lee
,
Karra A.
Jones
,
Russell J.
Butterfield
, et al.
March 01, 2019
The Helix
2018: Year in Review and Message from the Editors to Our Reviewers
Stefan M.
Pulst
,
Raymond P.
Roos
,
Alexandra
Durr
, et al.
February 14, 2019
Article
Genomic variation in educational attainment modifies Alzheimer disease risk
Neha S.
Raghavan
,
Badri
Vardarajan
,
Richard
Mayeux
February 11, 2019
Correction
The complex structure of ATXN2 genetic variation
February 04, 2019
Views & Reviews
Genotype-structure-phenotype relationships diverge in paralogs
ATP1A1
,
ATP1A2
, and
ATP1A3
Kathleen J.
Sweadner
,
Elena
Arystarkhova
,
John T.
Penniston
, et al.
February 04, 2019
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