Publications:

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: TOR1A: F205I; rs267607134

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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Blepharospasm, Oromandibular Dystonia, and Meige Syndrome: Clinical and Genetic Update.

Frontiers In Neurology

Ma, Hongying H; Qu, Jian J; Ye, Liangjun L; Shu, Yi Y; Qu, Qiang Q

Publication Date: 2021

Variant appearance in text: TOR1A: 613T>A

PubMed Link: 33854473

Variant Present in the following documents:

• Main text
• fneur-12-630221.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: TOR1A: 613T>A; F205I

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

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Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment.

Neurology. Genetics

Park, Joseph J; Damrauer, Scott M SM; Baras, Aris A; Reid, Jeffrey G JG; Overton, John D JD; Gonzalez-Alegre, Pedro P

Publication Date: 2019-10

Variant appearance in text: TOR1A: F205I

PubMed Link: 31583275

Variant Present in the following documents:

• NG2019011114.pdf

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Modern approaches for modelling dystonia and Huntington's disease in vitro and in vivo.

International Journal Of Experimental Pathology

Zhunina, Olga A OA; Yabbarov, Nikita G NG; Orekhov, Alexander N AN; Deykin, Alexey V AV

Publication Date: 2019-04

Variant appearance in text: DYT1: F205I

PubMed Link: 31090117

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Identification in Early Onset Parkinsonism among Norwegian Patients.

Movement Disorders Clinical Practice

Gustavsson, Emil K EK; Trinh, Joanne J; McKenzie, Marna M; Bortnick, Stephanie S; Petersen, Maria Skaalum MS; Farrer, Matthew J MJ; Aasly, Jan O JO

Publication Date: 2017

Variant appearance in text: TOR1A: 613T>A; rs267607134

PubMed Link: 30363439

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.

Elife

Demircioglu, F Esra FE; Sosa, Brian A BA; Ingram, Jessica J; Ploegh, Hidde L HL; Schwartz, Thomas U TU

Publication Date: 2016-08-04

Variant appearance in text: TOR1A: F205I

PubMed Link: 27490483

Variant Present in the following documents:

• Main text
• elife-17983.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: TOR1A: 613T>A; F205I

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models.

Neurobiology Of Disease

Bhagat, Srishti L SL; Qiu, Sunny S; Caffall, Zachary F ZF; Wan, Yehong Y; Pan, Yuanji Y; Rodriguiz, Ramona M RM; Wetsel, William C WC; Badea, Alexandra A; Hochgeschwender, Ute U; Calakos, Nicole N

Publication Date: 2016-09

Variant appearance in text: DYT1: F205I

PubMed Link: 27168150

Variant Present in the following documents:

• Main text

View BVdb publication page

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Torsin ATPases: structural insights and functional perspectives.

Current Opinion In Cell Biology

Laudermilch, Ethan E; Schlieker, Christian C

Publication Date: 2016-06

Variant appearance in text: DYT1: F205I

PubMed Link: 26803745

Variant Present in the following documents:

• Main text

View BVdb publication page

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Torsins: not your typical AAA+ ATPases.

Critical Reviews In Biochemistry And Molecular Biology

Rose, April E AE; Brown, Rebecca S H RS; Schlieker, Christian C

Publication Date: 2015

Variant appearance in text: DYT1: F205I

PubMed Link: 26592310

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A.

Human Mutation

Hettich, Jasmin J; Ryan, Scott D SD; de Souza, Osmar Norberto ON; Saraiva Macedo Timmers, Luís Fernando LF; Tsai, Shelun S; Atai, Nadia A NA; da Hora, Cintia C CC; Zhang, Xuan X; Kothary, Rashmi R; Snapp, Erik E; Ericsson, Maria M; Grundmann, Kathrin K; Breakefield, Xandra O XO; Nery, Flávia C FC

Publication Date: 2014-09

Variant appearance in text: DYT1: 613T>A

PubMed Link: 24930953

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants in diseases of the extrapyramidal system.

Current Genomics

Oczkowska, Anna A; Kozubski, Wojciech W; Lianeri, Margarita M; Dorszewska, Jolanta J

Publication Date: 2014-02

Variant appearance in text: TOR1A: F205I

PubMed Link: 24653660

Variant Present in the following documents:

• Main text
• CG-15-18.pdf

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Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report.

Bmc Medical Genetics

Moscovich, Mariana M; LeDoux, Mark S MS; Xiao, Jianfeng J; Rampon, Garrett L GL; Vemula, Satya R SR; Rodriguez, Ramon L RL; Foote, Kelly D KD; Okun, Michael S MS

Publication Date: 2013-07-13

Variant appearance in text: TOR1A: 613T>A

PubMed Link: 23849371

Variant Present in the following documents:

• 1471-2350-14-70.pdf

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The genetics of dystonia: new twists in an old tale.

Brain : A Journal Of Neurology

Charlesworth, Gavin G; Bhatia, Kailash P KP; Wood, Nicholas W NW

Publication Date: 2013-07

Variant appearance in text: TOR1A: F205I

PubMed Link: 23775978

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic issues in the diagnosis of dystonias.

Frontiers In Neurology

Petrucci, Simona S; Valente, Enza Maria EM

Publication Date: 2013

Variant appearance in text: TOR1A: F205I

PubMed Link: 23596437

Variant Present in the following documents:

• Main text

View BVdb publication page

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Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunction.

International Journal Of Cell Biology

Atai, Nadia A NA; Ryan, Scott D SD; Kothary, Rashmi R; Breakefield, Xandra O XO; Nery, Flávia C FC

Publication Date: 2012

Variant appearance in text: DYT1: F205I

PubMed Link: 22611399

Variant Present in the following documents:

• Main text
• IJCB2012-634214.pdf

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Genetic and clinical features of primary torsion dystonia.

Neurobiology Of Disease

Ozelius, Laurie J LJ; Bressman, Susan B SB

Publication Date: 2011-05

Variant appearance in text: DYT1: F205I

PubMed Link: 21168499

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.

Journal Of Medical Genetics

Calakos, Nicole N; Patel, Viren D VD; Gottron, Melissa M; Wang, Gaofeng G; Tran-Viet, Khan-Nhat KN; Brewington, Danielle D; Beyer, John L JL; Steffens, David C DC; Krishnan, Ranga R RR; Züchner, Stephan S

Publication Date: 2010-09

Variant appearance in text: TOR1A: 613T>A; F205I

PubMed Link: 19955557

Variant Present in the following documents:

• Main text

View BVdb publication page

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