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Volume 3; Issue 1
Main
Neurology: Genetics
Volume 3; Issue 1
Neurology: Genetics
Volume 3; Issue 1
1
Clinical and genetic study of hereditary spastic paraplegia in Canada
Chrestian, Nicolas
,
Dupré, Nicolas
,
Gan-Or, Ziv
,
Szuto, Anna
,
Chen, Shiyi
,
Venkitachalam, Anil
,
Brisson, Jean-Denis
,
Warman-Chardon, Jodi
,
Ahmed, Sohnee
,
Ashtiani, Setareh
,
MacDonald, Heather
,
Mohsin,
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 538 KB
Your tags:
english, 2017
2
Genetic architecture of age-related cognitive decline in African Americans
Raj, Towfique
,
Chibnik, Lori B.
,
McCabe, Cristin
,
Wong, Andus
,
Replogle, Joseph M.
,
Yu, Lei
,
Gao, Sujuan
,
Unverzagt, Frederick W.
,
Stranger, Barbara
,
Murrell, Jill
,
Barnes, Lisa
,
Hendrie, Hugh C.
,
For
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 667 KB
Your tags:
english, 2017
3
ABCA7 loss-of-function variants, expression, and neurologic disease risk
Allen, Mariet
,
Lincoln, Sarah J.
,
Corda, Morgane
,
Watzlawik, Jens O.
,
Carrasquillo, Minerva M.
,
Reddy, Joseph S.
,
Burgess, Jeremy D.
,
Nguyen, Thuy
,
Malphrus, Kimberly
,
Petersen, Ronald C.
,
Graff-Radfo
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 653 KB
Your tags:
english, 2017
4
Everolimus does not prevent Lafora body formation in murine Lafora disease
Mishra, Navin
,
Wang, Peixiang
,
Goldsmith, Danielle
,
Zhao, Xiaochu
,
Xue, Yunlin
,
Christians, Uwe
,
Minassian, Berge A.
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 393 KB
Your tags:
english, 2017
5
MAPT association with REM sleep behavior disorder
Fernández-Santiago, Rubén
,
Iranzo, Alex
,
Gaig, Carles
,
Serradell, Mónica
,
Fernández, Manel
,
Pastor, Pau
,
Tolosa, Eduardo
,
Santamaría, Joan
,
Ezquerra, Mario
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 220 KB
Your tags:
english, 2017
6
Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic
Nicholson, Patrick D.
,
Pulst, Stefan M.
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 363 KB
Your tags:
english, 2017
7
Phenytoin-responsive epileptic encephalopathy with a tandem duplication involving FGF12
Shi, Rui-Ming
,
Kobayashi, Tomoko
,
Kikuchi, Atsuo
,
Sato, Ryo
,
Uematsu, Mitsugu
,
An, Kumiko
,
Kure, Shigeo
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 397 KB
Your tags:
english, 2017
8
Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy
Takahashi, Yuji
,
Kanai, Masahiro
,
Taminato, Tomoya
,
Watanabe, Shoko
,
Matsumoto, Chihiro
,
Araki, Toshiyuki
,
Okamoto, Tomoko
,
Ogawa, Masafumi
,
Murata, Miho
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 303 KB
Your tags:
english, 2016
9
A novel WDR45 mutation in a patient with β-propeller protein-associated neurodegeneration
Wynn, DonRaphael P.
,
Pulst, Stefan M.
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 331 KB
Your tags:
english, 2017
10
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1
Ahrens-Nicklas, Rebecca C.
,
Umanah, George K.E.
,
Sondheimer, Neal
,
Deardorff, Matthew A.
,
Wilkens, Alisha B.
,
Conlin, Laura K.
,
Santani, Avni B.
,
Nesbitt, Addie
,
Juulsola, Jane
,
Ma, Erica
,
Dawson, Ted
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 1.04 MB
Your tags:
english, 2017
11
A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits
Guzmán, Yomayra F.
,
Ramsey, Keri
,
Stolz, Jacob R.
,
Craig, David W.
,
Huentelman, Mathew J.
,
Narayanan, Vinodh
,
Swanson, Geoffrey T.
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 966 KB
Your tags:
english, 2017
12
2016 in Review and Message from the Editors to our Reviewers
Pulst, Stefan M.
,
Johnson, Nicholas Elwood
,
Durr, Alexandra
,
Pandolfo, Massimo
,
Roos, Raymond P.
,
Vance, Jeffery M.
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 179 KB
Your tags:
english, 2017
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