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A peer-reviewed clinical and translational neurology open access journal
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-Year
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2019
Clinical/Scientific Notes
Missense mutations in DYT-TOR1A dystonia
Zafar
Iqbal
,
Jeanette
Koht
,
Lasse
Pihlstrøm
, et al.
June 06, 2019
Article
Congenital myopathies in the adult neuromuscular clinic
Diagnostic challenges and pitfalls
Stefan
Nicolau
,
Teerin
Liewluck
,
Jennifer A.
Tracy
, et al.
June 04, 2019
Article
DMPK
gene DNA methylation levels are associated with muscular and respiratory profiles in DM1
Cécilia
Légaré
,
Gayle
Overend
,
Simon-Pierre
Guay
, et al.
May 23, 2019
Article
Novel mutation in
TNPO3
causes congenital limb-girdle myopathy with slow progression
Anna
Vihola
,
Johanna
Palmio
,
Olof
Danielsson
, et al.
May 02, 2019
Article
Brain-derived neurotrophic factor, epigenetics in stroke skeletal muscle, and exercise training
Alice S.
Ryan
,
Huichun
Xu
,
Frederick M.
Ivey
, et al.
May 01, 2019
Article
Novel pathogenic
VPS13A
gene mutations in Japanese patients with chorea-acanthocytosis
Yoshiaki
Nishida
,
Masayuki
Nakamura
,
Yuka
Urata
, et al.
May 01, 2019
Article
Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease
Christopher
Newell
,
Aneal
Khan
,
David
Sinasac
, et al.
May 01, 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
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