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Volume 2; Issue 3
Main
Neurology: Genetics
Volume 2; Issue 3
Neurology: Genetics
Volume 2; Issue 3
1
Spinocerebellar ataxia type 36 in the Han Chinese
Lee, Y.-C.
,
Tsai, P.-C.
,
Guo, Y.-C.
,
Hsiao, C.-T.
,
Liu, G.-T.
,
Liao, Y.-C.
,
Soong, B.-W.
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 757 KB
Your tags:
english, 2016
2
Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia
Masuho, I.
,
Fang, M.
,
Geng, C.
,
Zhang, J.
,
Jiang, H.
,
Ozgul, R. K.
,
Y lmaz, D. Y.
,
Yaln zo lu, D.
,
Yuksel, D.
,
Yarrow, A.
,
Myers, A.
,
Burn, S. C.
,
Crotwell, P. L.
,
Padilla-Lopez, S.
,
Dursun, A.
,
Marte
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 480 KB
Your tags:
english, 2016
3
White matter involvement in a family with a novel PDGFB mutation
Biancheri, Roberta
,
Severino, Mariasavina
,
Robbiano, Angela
,
Iacomino, Michele
,
Del Sette, Massimo
,
Minetti, Carlo
,
Cervasio, Mariarosaria
,
Del Basso De Caro, Marialaura
,
Striano, Pasquale
,
Zara, Fede
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 463 KB
Your tags:
english, 2016
4
ABCA7 frameshift deletion associated with Alzheimer disease in African Americans
Cukier, Holly N.
,
Kunkle, Brian W.
,
Vardarajan, Badri N.
,
Rolati, Sophie
,
Hamilton-Nelson, Kara L.
,
Kohli, Martin A.
,
Whitehead, Patrice L.
,
Dombroski, Beth A.
,
Van Booven, Derek
,
Lang, Rosalyn
,
Dykxh
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 592 KB
Your tags:
english, 2016
5
Defining the spectrum of frontotemporal dementias associated with TARDBP mutations
Caroppo, Paola
,
Camuzat, Agnès
,
Guillot-Noel, Léna
,
Thomas-Antérion, Catherine
,
Couratier, Philippe
,
Wong, Tsz Hang
,
Teichmann, Marc
,
Golfier, Véronique
,
Auriacombe, Sophie
,
Belliard, Serge
,
Laurent,
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 853 KB
Your tags:
english, 2016
6
Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD
Morais, Sara
,
Bastos-Ferreira, Rita
,
Sequeiros, Jorge
,
Alonso, Isabel
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 438 KB
Your tags:
english, 2016
7
Next-generation profiling to identify the molecular etiology of Parkinson dementia
Henderson-Smith, Adrienne
,
Corneveaux, Jason J.
,
De Both, Matthew
,
Cuyugan, Lori
,
Liang, Winnie S.
,
Huentelman, Matthew
,
Adler, Charles
,
Driver-Dunckley, Erika
,
Beach, Thomas G.
,
Dunckley, Travis L.
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 569 KB
Your tags:
english, 2016
8
Clinical and genetic features of cervical dystonia in a large multicenter cohort
LeDoux, Mark S.
,
Vemula, Satya R.
,
Xiao, Jianfeng
,
Thompson, Misty M.
,
Perlmutter, Joel S.
,
Wright, Laura J.
,
Jinnah, H.A.
,
Rosen, Ami R.
,
Hedera, Peter
,
Comella, Cynthia L.
,
Weissbach, Anne
,
Junker,
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 526 KB
Your tags:
english, 2016
9
Parkinson disease ( PARK ) genes are somatically mutated in cutaneous melanoma
Inzelberg, Rivka
,
Samuels, Yardena
,
Azizi, Esther
,
Qutob, Nouar
,
Inzelberg, Lilah
,
Domany, Eytan
,
Schechtman, Edna
,
Friedman, Eitan
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 364 KB
Your tags:
english, 2016
10
Mutation of TBCK causes a rare recessive developmental disorder
Guerreiro, Rita J.
,
Brown, Rachel
,
Dian, Donnai
,
de Goede, Christian
,
Bras, Jose
,
Mole, Sara E.
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 458 KB
Your tags:
english, 2016
11
Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities
Alkufri, Fadi
,
Shaag, Avraham
,
Abu-Libdeh, Bassam
,
Elpeleg, Orly
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 356 KB
Your tags:
english, 2016
12
Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci
He, Fang
,
Jones, Julie M.
,
Figueroa-Romero, Claudia
,
Zhang, Dapeng
,
Feldman, Eva L.
,
Goutman, Stephen A.
,
Meisler, Miriam H.
,
Callaghan, Brian C.
,
Todd, Peter K.
Journal:
Neurology: Genetics
Year:
2016
File:
PDF, 537 KB
Your tags:
2016
13
DNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficient
Wang, Liyong
,
Maldonado, Lizmarie
,
Beecham, Gary W.
,
Martin, Eden R.
,
Evatt, Marian L.
,
Ritchie, James C.
,
Haines, Jonathan L.
,
Zabetian, Cyrus P.
,
Payami, Haydeh
,
Pericak-Vance, Margaret A.
,
Vance, J
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 508 KB
Your tags:
english, 2016
14
FTL mutation in a Chinese pedigree with neuroferritinopathy
Ni, Wang
,
Li, Hong-Fu
,
Zheng, Yi-Cen
,
Wu, Zhi-Ying
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 483 KB
Your tags:
english, 2016
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