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Public Health Genomics and Precision Health Knowledge Base (v5.9)

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HuGE Navigator|HuGE Literature Finder|PHGKB

HuGE Literature Finder

Records 1-11

Query Trace: Movement Disorders and THAP1[orginal query]

Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function. Journal of neurology 2016 Jan . Dos Santos Camila Oliveira, Masuho Ikuo, da Silva-Júnior Francisco Pereira, Barbosa Egberto Reis, Silva Sonia Maria Cesar Azevedo, Borges Vanderci, Ferraz Henrique Ballalai, Rocha Maria Sheila Guimarães, Limongi João Carlos Papaterra, Martemyanov Kirill A, de Carvalho Aguiar Patric Similar articles in PubMed
Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia. Journal of the neurological sciences 2014 Sep 344 (1-2): 190-2. da Silva-Junior Francisco Pereira, dos Santos Camila Oliveira, Silva Sonia Maria Cesar Azevedo, Barbosa Egberto Reis, Borges Vanderci, Ferraz Henrique Ballalai, Limongi João Carlos Papaterra, Rocha Maria Sheila Guimarães, de Carvalho Aguiar Patric Similar articles in PubMed
DRD1 rare variants associated with tardive-like dystonia: a pilot pathway sequencing study in dystonia. Parkinsonism & related disorders 2014 Jul 20 (7): 782-5. Groen Justus L, Ritz Katja, Warner Tom T, Baas Frank, Tijssen Marina A Similar articles in PubMed
SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain : a journal of neurology 2013 Jan 136 (Pt 1): Pt 1. Peall KJ, Smith DJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine P, Bajaj N, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR Similar articles in PubMed
Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia. Journal of neurology 2012 Nov . Dobri?i? VS, Kresojevi? ND, Svetel MV, Jankovi? MZ, Petrovi? IN, Tomi? AD, Novakovi? IV, Kosti? VS Similar articles in PubMed
Common polymorphisms in dystonia-linked genes and susceptibility to the sporadic primary dystonias. Parkinsonism & related disorders 2012 May 18 (4): 351-7. Newman Jeremy R B, Sutherland Greg T, Boyle Richard S, Limberg Nicole, Blum Stefan, O'Sullivan John D, Silburn Peter A, Mellick George Similar articles in PubMed
Novel THAP1 gene mutations in patients with primary dystonia from southwest China. Journal of the neurological sciences 2011 Oct 309 (1-2): 63-7. Song Wei, Chen Yongping, Huang Rui, Chen Ke, Pan Pinglei, Yang Yuan, Shang Hui-Fa Similar articles in PubMed
Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China. European journal of neurology : the official journal of the European Federation of Neurological Societies 2011 Mar 18 (3): 497-503. Cheng F B, Wan X H, Feng J C, Wang L, Yang Y M, Cui L Similar articles in PubMed
The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia. Movement disorders : official journal of the Movement Disorder Society 2011 Feb 26 (3): 549-52. Xiao Jianfeng, Zhao Yu, Bastian Robert W, Perlmutter Joel S, Racette Brad A, Tabbal Samer D, Karimi Morvarid, Paniello Randal C, Wszolek Zbigniew K, Uitti Ryan J, Van Gerpen Jay A, Simon David K, Tarsy Daniel, Hedera Peter, Truong Daniel D, Frei Karen P, Blitzer Andrew, Rudzi?ska Monika, Pfeiffer Ronald F, Le Carrie, LeDoux Mark Similar articles in PubMed
Prevalence of THAP1 sequence variants in German patients with primary dystonia. Movement disorders : official journal of the Movement Disorder Society 2010 Sep 25 (12): 1982-6. Söhn Anne S, Glöckle Nicola, Doetzer Andrea Duarte, Deuschl Günther, Felbor Ute, Topka Helge R, Schöls Ludger, Riess Olaf, Bauer Peter, Müller Ulrich, Grundmann Kathr Similar articles in PubMed
Novel THAP1 sequence variants in primary dystonia. Neurology 2010 Jan 74 (3): 229-38. Xiao J, Zhao Y, Bastian R W, Perlmutter J S, Racette B A, Tabbal S D, Karimi M, Paniello R C, Wszolek Z K, Uitti R J, Van Gerpen J A, Simon D K, Tarsy D, Hedera P, Truong D D, Frei K P, Dev Batish S, Blitzer A, Pfeiffer R F, Gong S, LeDoux M Similar articles in PubMed

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