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Year
Year
-Year
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2019
Editorial
HACE1, RAC1, and what else in the pathogenesis of SPPRS?
Han-Xiang
Deng
April 30, 2019
Article
HACE1 deficiency leads to structural and functional neurodevelopmental defects
Vanja
Nagy
,
Ronja
Hollstein
,
Tsung-Pin
Pai
, et al.
April 30, 2019
Clinical/Scientific Notes
X-linked myotubular myopathy and recurrent spontaneous pneumothorax
A new phenotype?
Per-Ole
Carstens
,
Eva Maria Christina
Schwaibold
,
Katharina
Schregel
, et al.
April 26, 2019
Article
Oligogenic basis of sporadic ALS
The example of
SOD1
p.Ala90Val mutation
Liina
Kuuluvainen
,
Karri
Kaivola
,
Saana
Mönkäre
, et al.
April 23, 2019
Article
Novel pathogenic
XK
mutations in McLeod syndrome and interaction between XK protein and chorein
Yuka
Urata
,
Masayuki
Nakamura
,
Natsuki
Sasaki
, et al.
April 22, 2019
Article
HTT haplogroups in Finnish patients with Huntington disease
Susanna
Ylönen
,
Jussi O.T.
Sipilä
,
Marja
Hietala
, et al.
April 22, 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
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