Mutations in CIZ1 cause adult onset primary cervical dystonia
Xiao, Jianfeng, Uitti, Ryan J., Zhao, Yu, Vemula, Satya R., Perlmutter, Joel S., Wszolek, Zbigniew K., Maraganore, Demetrius M., Auburger Dr Med, Georg, Leube Dr Med, Barbara, Lehnhoff, Katja, LeDoux, Mark S.
Published in Annals of neurology (01.04.2012)
Published in Annals of neurology (01.04.2012)
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Journal Article
Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome
Xiao, Jianfeng, Vemula, Satya R, Xue, Yi, Khan, Mohammad M, Carlisle, Francesca A, Waite, Adrian J, Blake, Derek J, Dragatsis, Ioannis, Zhao, Yu, LeDoux, Mark S
Published in Neurobiology of disease (01.02.2017)
Published in Neurobiology of disease (01.02.2017)
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Journal Article
Role of Gα(olf) in familial and sporadic adult-onset primary dystonia
Vemula, Satya R, Puschmann, Andreas, Xiao, Jianfeng, Zhao, Yu, Rudzińska, Monika, Frei, Karen P, Truong, Daniel D, Wszolek, Zbigniew K, LeDoux, Mark S
Published in Human molecular genetics (15.06.2013)
Published in Human molecular genetics (15.06.2013)
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Journal Article
Role of G[alpha](olf) in familial and sporadic adult-onset primary dystonia
Vemula, Satya R, Puschmann, Andreas, Xiao, Jianfeng, Zhao, Yu, Rudzinska, Monika, Frei, Karen P, Truong, Daniel D, Wszolek, Zbigniew K, LeDoux, Mark S
Published in Human molecular genetics (15.06.2013)
Published in Human molecular genetics (15.06.2013)
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Journal Article
Blepharospasm in a multiplex African-American pedigree
Xiao, Jianfeng, Thompson, Misty M, Vemula, Satya R, LeDoux, Mark S
Published in Journal of the neurological sciences (15.03.2016)
Published in Journal of the neurological sciences (15.03.2016)
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Journal Article
Pathogenic variants in TUBB4A are not found in primary dystonia
Vemula, Satya R, Xiao, Jianfeng, Bastian, Robert W, Momčilović, Dragana, Blitzer, Andrew, LeDoux, Mark S
Published in Neurology (08.04.2014)
Published in Neurology (08.04.2014)
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Journal Article
Recent Advances in the Genetics of Dystonia
Xiao, Jianfeng, Vemula, Satya R., LeDoux, Mark S.
Published in Current neurology and neuroscience reports (01.08.2014)
Published in Current neurology and neuroscience reports (01.08.2014)
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Journal Article
Motor phenotypes and molecular networks associated with germline deficiency of Ciz1
Xiao, Jianfeng, Vemula, Satya R., Xue, Yi, Khan, Mohammad M., Kuruvilla, Korah P., Marquez-Lona, Esther M., Cobb, Madison R., LeDoux, Mark S.
Published in Experimental neurology (01.09.2016)
Published in Experimental neurology (01.09.2016)
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Journal Article
Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases
LeDoux, Mark S, Xiao, Jianfeng, Rudzińska, Monika, Bastian, Robert W, Wszolek, Zbigniew K, Van Gerpen, Jay A, Puschmann, Andreas, Momčilović, Dragana, Vemula, Satya R, Zhao, Yu
Published in Parkinsonism & related disorders (01.06.2012)
Published in Parkinsonism & related disorders (01.06.2012)
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Journal Article
Whole‐exome sequencing for variant discovery in blepharospasm
Tian, Jun, Vemula, Satya R., Xiao, Jianfeng, Valente, Enza Maria, Defazio, Giovanni, Petrucci, Simona, Gigante, Angelo Fabio, Rudzińska‐Bar, Monika, Wszolek, Zbigniew K., Kennelly, Kathleen D., Uitti, Ryan J., van Gerpen, Jay A., Hedera, Peter, Trimble, Elizabeth J., LeDoux, Mark S.
Published in Molecular genetics & genomic medicine (01.07.2018)
Published in Molecular genetics & genomic medicine (01.07.2018)
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Journal Article
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, Johanna, Jankovic, Joseph, Barbano, Richard L, Reich, Stephen G, Rodriguez, Ramon L, Berman, Brian D, Chouinard, Sylvain, Severt, Lawrence, Agarwal, Pinky, Stover, Natividad P
Published in Neurology. Genetics (01.06.2016)
Published in Neurology. Genetics (01.06.2016)
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Journal Article
Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report
Moscovich, Mariana, LeDoux, Mark S, Xiao, Jianfeng, Rampon, Garrett L, Vemula, Satya R, Rodriguez, Ramon L, Foote, Kelly D, Okun, Michael S
Published in BMC genetics (13.07.2013)
Published in BMC genetics (13.07.2013)
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Journal Article
A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia
Vemula, Satya R., Xiao, Jianfeng, Zhao, Yu, Bastian, Robert W., Perlmutter, Joel S., Racette, Brad A., Paniello, Randal C., Wszolek, Zbigniew K., Uitti, Ryan J., Gerpen, Jay A., Hedera, Peter, Truong, Daniel D., Blitzer, Andrew, Rudzińska, Monika, Momčilović, Dragana, Jinnah, Hyder A., Frei, Karen, Pfeiffer, Ronald F., LeDoux, Mark S.
Published in Molecular genetics & genomic medicine (01.05.2014)
Published in Molecular genetics & genomic medicine (01.05.2014)
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Journal Article
A rare sequence variant in intron 1 of THAP 1 is associated with primary dystonia
Vemula, Satya R., Xiao, Jianfeng, Zhao, Yu, Bastian, Robert W., Perlmutter, Joel S., Racette, Brad A., Paniello, Randal C., Wszolek, Zbigniew K., Uitti, Ryan J., Van Gerpen, Jay A., Hedera, Peter, Truong, Daniel D., Blitzer, Andrew, Rudzińska, Monika, Momčilović, Dragana, Jinnah, Hyder A., Frei, Karen, Pfeiffer, Ronald F., LeDoux, Mark S.
Published in Molecular genetics & genomic medicine (01.05.2014)
Published in Molecular genetics & genomic medicine (01.05.2014)
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Journal Article
Genotypeaphenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases
LeDoux, Mark S, Xiao, Jianfeng, RudziAska, Monika, Bastian, Robert W, Wszolek, Zbigniew K, Van Gerpen, Jay A, Puschmann, Andreas, MomAilovic, Dragana, Vemula, Satya R, Zhao, Yu
Published in Parkinsonism & related disorders (01.06.2012)
Published in Parkinsonism & related disorders (01.06.2012)
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Journal Article