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Volume 4; Issue 3
Main
Neurology: Genetics
Volume 4; Issue 3
Neurology: Genetics
Volume 4; Issue 3
1
Expanding the global prevalence of spinocerebellar ataxia type 42
Ngo, Kathie
,
Aker, Mamdouh
,
Petty, Lauren E.
,
Chen, Jason
,
Cavalcanti, Francesca
,
Nelson, Alexandra B.
,
Hassin-Baer, Sharon
,
Geschwind, Michael D.
,
Perlman, Susan
,
Italiano, Domenico
,
Laganà, Angelina
Journal:
Neurology: Genetics
Year:
2018
Language:
english
File:
PDF, 229 KB
Your tags:
english, 2018
2
Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
Hildebrand, Michael S.
,
Harvey, A. Simon
,
Malone, Stephen
,
Damiano, John A.
,
Do, Hongdo
,
Ye, Zimeng
,
McQuillan, Lara
,
Maixner, Wirginia
,
Kalnins, Renate
,
Nolan, Bernadette
,
Wood, Martin
,
Ozturk, Ezgi
,
Journal:
Neurology: Genetics
Year:
2018
Language:
english
File:
PDF, 471 KB
Your tags:
english, 2018
3
Determining the incidence of familiality in ALS
Ryan, Marie
,
Heverin, Mark
,
Doherty, Mark A.
,
Davis, Nicola
,
Corr, Emma M.
,
Vajda, Alice
,
Pender, Niall
,
McLaughlin, Russell
,
Hardiman, Orla
Journal:
Neurology: Genetics
Year:
2018
Language:
english
File:
PDF, 739 KB
Your tags:
english, 2018
4
Chorea-acanthocytosis
Walker, Susan
,
Dad, Rubina
,
Thiruvahindrapuram, Bhooma
,
Ullah, Muhammed Ikram
,
Ahmad, Arsalan
,
Hassan, Muhammad Jawad
,
Scherer, Stephen W.
,
Minassian, Berge A.
Journal:
Neurology: Genetics
Year:
2018
Language:
english
File:
PDF, 300 KB
Your tags:
english, 2018
5
ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia
Zhang, Kang
,
Liu, Qing
,
Liu, Keqiang
,
Shen, Dongchao
,
Tai, Hongfei
,
Shu, Shi
,
Ding, Qingyun
,
Fu, Hanhui
,
Liu, Shuangwu
,
Wang, Zhili
,
Li, Xiaoguang
,
Liu, Mingsheng
,
Zhang, Xue
,
Cui, Liying
Journal:
Neurology: Genetics
Year:
2018
Language:
english
File:
PDF, 512 KB
Your tags:
english, 2018
6
Expanding the global prevalence of spinocerebellar ataxia type 42
Journal:
Neurology: Genetics
Year:
2018
Language:
english
File:
PDF, 123 KB
Your tags:
english, 2018
7
Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy
Sainio, Markus T.
,
Ylikallio, Emil
,
Mäenpää, Laura
,
Lahtela, Jenni
,
Mattila, Pirkko
,
Auranen, Mari
,
Palmio, Johanna
,
Tyynismaa, Henna
Journal:
Neurology: Genetics
Year:
2018
Language:
english
File:
PDF, 1.42 MB
Your tags:
english, 2018
8
Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis–temporal lobe epilepsy
Striano, Pasquale
,
Nobile, Carlo
Journal:
Neurology: Genetics
Year:
2018
Language:
english
File:
PDF, 159 KB
Your tags:
english, 2018
9
Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis
Wong, John K.L.
,
Gui, Hongsheng
,
Kwok, Maxwell
,
Ng, Ping Wing
,
Lui, Colin H.T.
,
Baum, Larry
,
Sham, Pak Chung
,
Kwan, Patrick
,
Cherny, Stacey S.
Journal:
Neurology: Genetics
Year:
2018
Language:
english
File:
PDF, 242 KB
Your tags:
english, 2018
10
Brain copper storage after genetic long-term correction in a mouse model of Wilson disease
Uerlings, Ricarda
,
Moreno, Daniel
,
Murillo, Oihana
,
Gazquez, Cristina
,
Hernández-Alcoceba, Rubén
,
González-Aseguinolaza, Gloria
,
Weiskirchen, Ralf
Journal:
Neurology: Genetics
Year:
2018
Language:
english
File:
PDF, 640 KB
Your tags:
english, 2018
11
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
Shanbhag, Niraj M.
,
Geschwind, Michael D.
,
DiGiovanna, John J.
,
Groden, Catherine
,
Godfrey, Rena
,
Yousefzadeh, Matthew J.
,
Wade, Erin A.
,
Niedernhofer, Laura J.
,
Malicdan, May Christine V.
,
Kraemer, K
Journal:
Neurology: Genetics
Year:
2018
Language:
english
File:
PDF, 507 KB
Your tags:
english, 2018
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