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Year
Year
-Year
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2014
2015
2016
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2019
Article
Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
Alejandro
Horga
,
Enrico
Bugiardini
,
Andreea
Manole
, et al.
April 01, 2019
Article
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in
BVES
Willem
De Ridder
,
Isabelle
Nelson
,
Bob
Asselbergh
, et al.
April 01, 2019
Views and Reviews
Antisense oligonucleotides
A primer
Daniel R.
Scoles
,
Eric V.
Minikel
,
Stefan M.
Pulst
April 01, 2019
Article
Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
Ilona
Kalasova
,
Hana
Hanzlikova
,
Neerja
Gupta
, et al.
March 25, 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
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
Editorial
Unraveling the genetic complexity of Alzheimer disease with Mendelian Randomization
Sara
Bandres-Ciga
,
Faraz
Faghri
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
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