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Volume 3; Issue 5
Main
Neurology: Genetics
Volume 3; Issue 5
Neurology: Genetics
Volume 3; Issue 5
1
Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease
Ruiz-Martínez, Javier
,
Azcona, Luis J.
,
Bergareche, Alberto
,
Martí-Massó, Jose F.
,
Paisán-Ruiz, Coro
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 439 KB
Your tags:
english, 2017
2
Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia
Ng, Yi Shiau
,
Powell, Helen
,
Hoggard, Nigel
,
Turnbull, Doug M.
,
Taylor, Robert W.
,
Hadjivassiliou, Marios
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 411 KB
Your tags:
english, 2017
3
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities
Accogli, Andrea
,
Iacomino, Michele
,
Pinto, Francesca
,
Orsini, Alessandro
,
Vari, Maria Stella
,
Selmi, Raed
,
Torella, Annalaura
,
Nigro, Vincenzo
,
Minetti, Carlo
,
Severino, Mariasavina
,
Striano, Pasquale
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 445 KB
Your tags:
english, 2017
4
Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease
Vardarajan, Badri N.
,
Tosto, Giuseppe
,
Lefort, Roger
,
Yu, Lei
,
Bennett, David A.
,
De Jager, Philip L.
,
Barral, Sandra
,
Reyes-Dumeyer, Dolly
,
Nagy, Peter L.
,
Lee, Joseph H.
,
Cheng, Rong
,
Medrano, Marti
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 693 KB
Your tags:
english, 2017
5
Design and rationale for examining neuroimaging genetics in ischemic stroke
Giese, Anne-Katrin
,
Schirmer, Markus D.
,
Donahue, Kathleen L.
,
Cloonan, Lisa
,
Irie, Robert
,
Winzeck, Stefan
,
Bouts, Mark J.R.J.
,
McIntosh, Elissa C.
,
Mocking, Steven J.
,
Dalca, Adrian V.
,
Sridharan, R
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 332 KB
Your tags:
english, 2017
6
IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy
Ishiyama, Akihiko
,
Sakai, Chika
,
Matsushima, Yuichi
,
Noguchi, Satoru
,
Mitsuhashi, Satomi
,
Endo, Yukari
,
Hayashi, Yukiko K.
,
Saito, Yoshiaki
,
Nakagawa, Eiji
,
Komaki, Hirofumi
,
Sugai, Kenji
,
Sasaki, Mas
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 658 KB
Your tags:
english, 2017
7
A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy
Al-Hashim, Aqeela
,
Gonorazky, Hernan D.
,
Amburgey, Kimberly
,
Das, Soma
,
Dowling, James J.
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 418 KB
Your tags:
english, 2017
8
Children with 5′-end NF1 gene mutations are more likely to have glioma
Anastasaki, Corina
,
Morris, Stephanie M.
,
Gao, Feng
,
Gutmann, David H.
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 527 KB
Your tags:
english, 2017
9
De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities
Sommerville, Ewen W.
,
Alston, Charlotte L.
,
Pyle, Angela
,
He, Langping
,
Falkous, Gavin
,
Naismith, Karen
,
Chinnery, Patrick F.
,
McFarland, Robert
,
Taylor, Robert W.
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 390 KB
Your tags:
english, 2017
10
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome
Dad, Rubina
,
Walker, Susan
,
Scherer, Stephen W.
,
Hassan, Muhammad Jawad
,
Kang, Suk Yun
,
Minassian, Berge A.
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 287 KB
Your tags:
english, 2017
11
Genome-wide scan in Hispanics highlights candidate loci for brain white matter hyperintensities
Beecham, Ashley
,
Dong, Chuanhui
,
Wright, Clinton B.
,
Dueker, Nicole
,
Brickman, Adam M.
,
Wang, Liyong
,
DeCarli, Charles
,
Blanton, Susan H.
,
Rundek, Tatjana
,
Mayeux, Richard
,
Sacco, Ralph L.
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 468 KB
Your tags:
english, 2017
12
ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion
Farhan, Sali M.K.
,
Gendron, Tania F.
,
Petrucelli, Leonard
,
Hegele, Robert A.
,
Strong, Michael J.
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 306 KB
Your tags:
english, 2017
13
The Alzheimer's Disease Sequencing Project: Study design and sample selection
Beecham, Gary W.
,
Bis, J.C.
,
Martin, E.R.
,
Choi, S.-H.
,
DeStefano, A. L.
,
van Duijn, C.M.
,
Fornage, M.
,
Gabriel, S.B.
,
Koboldt, D.C.
,
Larson, D.E.
,
Naj, A.C.
,
Psaty, B.M.
,
Salerno, W.
,
Bush, W.S.
,
For
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 195 KB
Your tags:
english, 2017
14
Ataxia-pancytopenia syndrome with SAMD9L mutations
Gorcenco, Sorina
,
Komulainen-Ebrahim, Jonna
,
Nordborg, Karin
,
Suo-Palosaari, Maria
,
Andréasson, Sten
,
Krüger, Johanna
,
Nilsson, Christer
,
Kjellström, Ulrika
,
Rahikkala, Elisa
,
Turkiewicz, Dominik
,
Kar
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 610 KB
Your tags:
english, 2017
15
Autosomal recessive inheritance of ADCY5 -related generalized dystonia and myoclonus
Barrett, Matthew J.
,
Williams, Eli S.
,
Chambers, Chelsea
,
Dhamija, Radhika
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 171 KB
Your tags:
english, 2017
16
Genomic links between blast exposure, brain injury, and Alzheimer disease
Conley, Yvette P.
,
Diaz-Arrastia, Ramon
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 73 KB
Your tags:
english, 2017
17
Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations
Lynch, David S.
,
Loh, Samantha H.Y.
,
Harley, Jasmine
,
Noyce, Alastair J.
,
Martins, L. Miguel
,
Wood, Nicholas W.
,
Houlden, Henry
,
Plun-Favreau, Helene
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 335 KB
Your tags:
english, 2017
18
Cervical artery dissection and iliac artery aneurysm in an SMAD-4 mutation carrier
Wiener, Emmanuel
,
Martin, Peter
,
Mehta, Sarju
,
Markus, Hugh Stephen
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 202 KB
Your tags:
english, 2017
19
No rare deleterious variants from STK32B , PPARGC1A , and CTNNA3 are associated with essential tremor
Houle, Gabrielle
,
Ambalavanan, Amirthagowri
,
Schmouth, Jean-François
,
Leblond, Claire S.
,
Spiegelman, Dan
,
Laurent, Sandra B.
,
Bourassa, Cynthia V.
,
Grayson, Celene
,
Panisset, Michel
,
Chouinard, Sylva
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 181 KB
Your tags:
english, 2017
20
Moderate blast exposure alters gene expression and levels of amyloid precursor protein
Gill, Jessica
,
Cashion, Ann
,
Osier, Nicole
,
Arcurio, Lindsay
,
Motamedi, Vida
,
Dell, Kristine C.
,
Carr, Walter
,
Kim, Hyung-Suk
,
Yun, Sijung
,
Walker, Peter
,
Ahlers, Stephen
,
LoPresti, Matthew
,
Yarnell,
Journal:
Neurology: Genetics
Year:
2017
Language:
english
File:
PDF, 559 KB
Your tags:
english, 2017
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