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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Spasmodic Dysphonia[original query]
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
The Lancet. Neurology 2009 May 8 (5): 447-52.
Djarmati Ana, Schneider Susanne A, Lohmann Katja, Winkler Susen, Pawlack Heike, Hagenah Johann, Brüggemann Norbert, Zittel Simone, Fuchs Tania, Rakovi? Aleksandar, Schmidt Alexander, Jabusch Hans-Christian, Wilcox Robert, Kosti? Vladimir S, Siebner Hartwig, Altenmüller Eckart, Münchau Alexander, Ozelius Laurie J, Klein Christi
High-throughput mutational analysis of TOR1A in primary dystonia.
BMC medical genetics 2009 10 (1): 24.
Xiao Jianfeng, Bastian Robert W, Perlmutter Joel S, Racette Brad A, Tabbal Samer D, Karimi Morvarid, Paniello Randal C, Blitzer Andrew, Batish Sat Dev, Wszolek Zbigniew K, Uitti Ryan J, Hedera Peter, Simon David K, Tarsy Daniel, Truong Daniel D, Frei Karen P, Pfeiffer Ronald F, Gong Suzhen, Zhao Yu, LeDoux Mark
Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2016 May .
de Gusmão Claudio M, Fuchs Tania, Moses Andrew, Multhaupt-Buell Trisha, Song Phillip C, Ozelius Laurie J, Franco Ramon A, Sharma Nut
Comparison of Two Multiparameter Acoustic Indices of Dysphonia Severity: The Acoustic Voice Quality Index and Cepstral Spectral Index of Dysphonia.
Journal of voice : official journal of the Voice Foundation 2017 7 32 (4): 515.e1-515.e13.
Lee Jeong Min, Roy Nelson, Peterson Elizabeth, Merrill Ray
Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.
Journal of neurology 2021 3 268 (10): 3897-3907.
Bogdanova-Mihaylova Petya, Chen Hongying, Plapp Helena Maria, Gorman Ciara, Alexander Michael D, McHugh John C, Moran Sharon, Early Anne, Cassidy Lorraine, Lynch Timothy, Murphy Sinéad M, Walsh Richard
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