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Year
Year
-Year
2011
2012
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2014
2015
2016
2017
2018
2019
Clinical/Scientific Notes
Double somatic mosaicism in a child with Dravet syndrome
Alison M.
Muir
,
Chontelle
King
,
Amy L.
Schneider
, et al.
April 19, 2019
Article
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
Chong
Sun
,
Jie
Song
,
Yanjun
Jiang
, et al.
April 19, 2019
Article
Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D
Andrew R.
Findlay
,
Rocio
Bengoechea
,
Sara K.
Pittman
, et al.
April 19, 2019
Clinical/Scientific Notes
A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis
Jineesh
Thottath
,
Shamsudheen Karuthedath
Vellarikkal
,
Rijith
Jayarajan
, et al.
April 11, 2019
Clinical/Scientific Notes
First
TMEM126A
missense mutation in an Italian proband with optic atrophy and deafness
Chiara
La Morgia
,
Leonardo
Caporali
,
Francesca
Tagliavini
, et al.
April 08, 2019
Abstracts
Proceedings of the 23rd International Stroke Genetics Consortium Workshop: Kyoto, Japan
Yoichiro
Kamatani
,
Stéphanie
Debette
April 08, 2019
Abstracts
Proceedings of the 24th International Stroke Genetics Consortium Workshop: Washington, DC, USA
Paul A.
Nyquist
,
John W.
Cole
April 08, 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
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