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Volume 5; Issue 3
Main
Neurology: Genetics
Volume 5; Issue 3
Neurology: Genetics
Volume 5; Issue 3
1
Brain-derived neurotrophic factor, epigenetics in stroke skeletal muscle, and exercise training
Ryan, Alice S.
,
Xu, Huichun
,
Ivey, Frederick M.
,
Macko, Richard F.
,
Hafer-Macko, Charlene E.
Journal:
Neurology: Genetics
Year:
2019
Language:
english
File:
PDF, 224 KB
Your tags:
english, 2019
2
A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis
Thottath, Jineesh
,
Vellarikkal, Shamsudheen Karuthedath
,
Jayarajan, Rijith
,
Verma, Ankit
,
Manamel, Manu
,
Singh, Archana
,
Rajendran, V. Raman
,
Sivasubbu, Sridhar
,
Scaria, Vinod
Journal:
Neurology: Genetics
Year:
2019
Language:
english
File:
PDF, 388 KB
Your tags:
english, 2019
3
Oligogenic basis of sporadic ALS
Kuuluvainen, Liina
,
Kaivola, Karri
,
Mönkäre, Saana
,
Laaksovirta, Hannu
,
Jokela, Manu
,
Udd, Bjarne
,
Valori, Miko
,
Pasanen, Petra
,
Paetau, Anders
,
Traynor, Bryan J.
,
Stone, David J.
,
Schleutker, Johanna
Journal:
Neurology: Genetics
Year:
2019
Language:
english
File:
PDF, 444 KB
Your tags:
english, 2019
4
Double somatic mosaicism in a child with Dravet syndrome
Muir, Alison M.
,
King, Chontelle
,
Schneider, Amy L.
,
Buttar, Aman S.
,
Scheffer, Ingrid E.
,
Sadleir, Lynette G.
,
Mefford, Heather C.
Journal:
Neurology: Genetics
Year:
2019
Language:
english
File:
PDF, 299 KB
Your tags:
english, 2019
5
Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression
Vihola, Anna
,
Palmio, Johanna
,
Danielsson, Olof
,
Penttilä, Sini
,
Louiselle, Daniel
,
Pittman, Sara
,
Weihl, Conrad
,
Udd, Bjarne
Journal:
Neurology: Genetics
Year:
2019
Language:
english
File:
PDF, 851 KB
Your tags:
english, 2019
6
Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease
Newell, Christopher
,
Khan, Aneal
,
Sinasac, David
,
Shoffner, John
,
Friederich, Marisa W.
,
Van Hove, Johan L.K.
,
Hume, Stacey
,
Shearer, Jane
,
Sosova, Iveta
Journal:
Neurology: Genetics
Year:
2019
File:
PDF, 340 KB
Your tags:
2019
7
X-linked myotubular myopathy and recurrent spontaneous pneumothorax
Carstens, Per-Ole
,
Schwaibold, Eva Maria Christina
,
Schregel, Katharina
,
Obermaier, Carolin D.
,
Wrede, Arne
,
Zechel, Sabrina
,
Pauli, Silke
,
Schmidt, Jens
Journal:
Neurology: Genetics
Year:
2019
Language:
english
File:
PDF, 216 KB
Your tags:
english, 2019
8
Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis
Nishida, Yoshiaki
,
Nakamura, Masayuki
,
Urata, Yuka
,
Kasamo, Kei
,
Hiwatashi, Hanae
,
Yokoyama, Izumi
,
Mizobuchi, Masahiro
,
Sakurai, Kotaro
,
Osaki, Yasushi
,
Morita, Yukari
,
Watanabe, Masako
,
Yoshida, Ken
Journal:
Neurology: Genetics
Year:
2019
Language:
english
File:
PDF, 360 KB
Your tags:
english, 2019
9
Double somatic mosaicism in a child with Dravet syndrome
Muir, Alison M.
,
King, Chontelle
,
Schneider, Amy L.
,
Buttar, Aman S.
,
Scheffer, Ingrid E.
,
Sadleir, Lynette G.
,
Mefford, Heather C.
Journal:
Neurology: Genetics
Year:
2019
File:
PDF, 299 KB
Your tags:
2019
10
HTT haplogroups in Finnish patients with Huntington disease
Ylönen, Susanna
,
Sipilä, Jussi O.T.
,
Hietala, Marja
,
Majamaa, Kari
Journal:
Neurology: Genetics
Year:
2019
File:
PDF, 321 KB
Your tags:
2019
11
X-linked myotubular myopathy and recurrent spontaneous pneumothorax
Carstens, Per-Ole
,
Schwaibold, Eva Maria Christina
,
Schregel, Katharina
,
Obermaier, Carolin D.
,
Wrede, Arne
,
Zechel, Sabrina
,
Pauli, Silke
,
Schmidt, Jens
Journal:
Neurology: Genetics
Year:
2019
File:
PDF, 216 KB
Your tags:
2019
12
Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis
Nishida, Yoshiaki
,
Nakamura, Masayuki
,
Urata, Yuka
,
Kasamo, Kei
,
Hiwatashi, Hanae
,
Yokoyama, Izumi
,
Mizobuchi, Masahiro
,
Sakurai, Kotaro
,
Osaki, Yasushi
,
Morita, Yukari
,
Watanabe, Masako
,
Yoshida, Ken
Journal:
Neurology: Genetics
Year:
2019
File:
PDF, 360 KB
Your tags:
2019
13
Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein
Urata, Yuka
,
Nakamura, Masayuki
,
Sasaki, Natsuki
,
Shiokawa, Nari
,
Nishida, Yoshiaki
,
Arai, Kaoru
,
Hiwatashi, Hanae
,
Yokoyama, Izumi
,
Narumi, Shinsuke
,
Terayama, Yasuo
,
Murakami, Takenobu
,
Ugawa, Yoshi
Journal:
Neurology: Genetics
Year:
2019
Language:
english
File:
PDF, 500 KB
Your tags:
english, 2019
14
DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1
Légaré, Cécilia
,
Overend, Gayle
,
Guay, Simon-Pierre
,
Monckton, Darren G.
,
Mathieu, Jean
,
Gagnon, Cynthia
,
Bouchard, Luigi
Journal:
Neurology: Genetics
Year:
2019
File:
PDF, 394 KB
Your tags:
2019
15
HACE1, RAC1, and what else in the pathogenesis of SPPRS?
Deng, Han-Xiang
Journal:
Neurology: Genetics
Year:
2019
File:
PDF, 71 KB
Your tags:
2019
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