Found: 27

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  • Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias.

    Published in:
    Movement Disorders Clinical Practice, 2024, v. 11, n. 5, p. 496, doi. 10.1002/mdc3.14006
    By:
    • Lai, Ruo‐Yah;
    • Rummey, Christian;
    • Amlang, Christian J.;
    • Lin, Chi‐Ying R.;
    • Chen, Tiffany X.;
    • Perlman, Susan;
    • Wilmot, George;
    • Gomez, Christopher M.;
    • Schmahmann, Jeremy D.;
    • Paulson, Henry;
    • Ying, Sarah H.;
    • Onyike, Chiadi U.;
    • Zesiewicz, Theresa A.;
    • Bushara, Khalaf O.;
    • Geschwind, Michael D.;
    • Figueroa, Karla P.;
    • Pulst, Stefan M.;
    • Subramony, Sub H.;
    • Burns, Matthew R.;
    • Opal, Puneet
    Publication type:
    Article

  • Spinocerebellar Ataxia Patient Perceptions Regarding Reproductive Options.

    Published in:
    Movement Disorders Clinical Practice, 2020, v. 7, n. 1, p. 37, doi. 10.1002/mdc3.12859
    By:
    • Cahn, Suzanne;
    • Rosen, Ami;
    • Wilmot, George
    Publication type:
    Article

  • Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.

    Published in:
    Journal of Child Neurology, 2018, v. 33, n. 6, p. 397, doi. 10.1177/0883073818764941
    By:
    • Ejaz, Resham;
    • Chen, Shiyi;
    • Isaacs, Charles J.;
    • Carnevale, Amanda;
    • Wilson, Judith;
    • George, Kristen;
    • Delatycki, Martin B.;
    • Perlman, Susan L.;
    • Mathews, Katherine D.;
    • Wilmot, George R.;
    • Hoyle, J. Chad;
    • Subramony, Sub H.;
    • Zesiewicz, Theresa;
    • Farmer, Jennifer M.;
    • Lynch, David R.;
    • Yoon, Grace
    Publication type:
    Article

  • Comorbid Medical Conditions in Friedreich Ataxia.

    Published in:
    Journal of Child Neurology, 2016, v. 31, n. 9, p. 1161, doi. 10.1177/0883073816643408
    By:
    • Shinnick, Julianna E.;
    • Schadt, Kimberly;
    • Strawser, Cassandra;
    • Wilcox, Nicholas;
    • Perlman, Susan L.;
    • Wilmot, George R.;
    • Gomez, Christopher M.;
    • Mathews, Katherine D.;
    • Yoon, Grace;
    • Zesiewicz, Theresa;
    • Hoyle, Chad;
    • Subramony, S. H.;
    • Yiu, Eppie M.;
    • Delatycki, Martin B.;
    • Brocht, Alicia F.;
    • Farmer, Jennifer M.;
    • Lynch, David R.
    Publication type:
    Article

  • Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-177
    By:
    • Ashizawa, Tetsuo;
    • Figueroa, Karla P.;
    • Perlman, Susan L.;
    • Gomez, Christopher M.;
    • Wilmot, George R.;
    • Schmahmann, Jeremy D.;
    • Ying, Sarah H.;
    • Zesiewicz, Theresa A.;
    • Paulson, Henry L.;
    • Shakkottai, Vikram G.;
    • Bushara, Khalaf O.;
    • Kuo, Sheng-Han;
    • Geschwind, Michael D.;
    • Xia, Guangbin;
    • Mazzoni, Pietro;
    • Krischer, Jeffrey P.;
    • Cuthbertson, David;
    • Holbert, Amy Roberts;
    • Ferguson, John H.;
    • Pulst, Stefan M.
    Publication type:
    Article

  • Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.

    Published in:
    2013
    By:
    • Ashizawa, Tetsuo;
    • Figueroa, Karla P;
    • Perlman, Susan L;
    • Gomez, Christopher M;
    • Wilmot, George R;
    • Schmahmann, Jeremy D;
    • Ying, Sarah H;
    • Zesiewicz, Theresa A;
    • Paulson, Henry L;
    • Shakkottai, Vikram G;
    • Bushara, Khalaf O;
    • Kuo, Sheng-Han;
    • Geschwind, Michael D;
    • Xia, Guangbin;
    • Mazzoni, Pietro;
    • Krischer, Jeffrey P;
    • Cuthbertson, David;
    • Holbert, Amy Roberts;
    • Ferguson, John H;
    • Pulst, Stefan M
    Publication type:
    journal article

  • The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias.

    Published in:
    Cerebellum, 2024, v. 23, n. 4, p. 1411, doi. 10.1007/s12311-023-01651-0
    By:
    • Selvadurai, Louisa P.;
    • Perlman, Susan L.;
    • Ashizawa, Tetsuo;
    • Wilmot, George R.;
    • Onyike, Chiadi U.;
    • Rosenthal, Liana S.;
    • Shakkottai, Vikram G.;
    • Paulson, Henry L.;
    • Subramony, Sub H.;
    • Bushara, Khalaf O.;
    • Kuo, Sheng-Han;
    • Dietiker, Cameron;
    • Geschwind, Michael D.;
    • Nelson, Alexandra B.;
    • Gomez, Christopher M.;
    • Opal, Puneet;
    • Zesiewicz, Theresa A.;
    • Hawkins, Trevor;
    • Yacoubian, Talene A.;
    • Nopoulos, Peggy C.
    Publication type:
    Article

  • The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications.

    Published in:
    Cerebellum, 2023, v. 22, n. 5, p. 790, doi. 10.1007/s12311-022-01424-1
    By:
    • Selvadurai, Louisa P.;
    • Perlman, Susan L.;
    • Wilmot, George R.;
    • Subramony, Sub H.;
    • Gomez, Christopher M.;
    • Ashizawa, Tetsuo;
    • Paulson, Henry L.;
    • Onyike, Chiadi U.;
    • Rosenthal, Liana S.;
    • Sair, Haris I.;
    • Kuo, Sheng-Han;
    • Ratai, Eva-Maria;
    • Zesiewicz, Theresa A.;
    • Bushara, Khalaf O.;
    • Öz, Gülin;
    • Dietiker, Cameron;
    • Geschwind, Michael D.;
    • Nelson, Alexandra B.;
    • Opal, Puneet;
    • Yacoubian, Talene A.
    Publication type:
    Article

  • Gaze-holding and anti-GAD antibody: prototypic heterogeneous motor dysfunction in immune disease.

    Published in:
    Cerebellum, 2022, v. 21, n. 1, p. 55, doi. 10.1007/s12311-021-01272-5
    By:
    • Theeranaew, Wanchat;
    • Wang, Fajun;
    • Ghasia, Fatema F.;
    • Wilmot, George;
    • Shaikh, Aasef G.
    Publication type:
    Article

  • Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor.

    Published in:
    Cerebellum, 2019, v. 18, n. 3, p. 519, doi. 10.1007/s12311-019-01016-6
    By:
    • Lai, Ruo-Yah;
    • Tomishon, Darya;
    • Figueroa, Karla P.;
    • Pulst, Stefan M.;
    • Perlman, Susan;
    • Wilmot, George;
    • Gomez, Christopher M.;
    • Schmahmann, Jeremy D.;
    • Paulson, Henry;
    • Shakkottai, Vikram G.;
    • Ying, Sarah H.;
    • Zesiewicz, Theresa;
    • Bushara, Khalaf;
    • Geschwind, Michael;
    • Xia, Guangbin;
    • Subramony, S. H.;
    • Ashizawa, Tetsuo;
    • Kuo, Sheng-Han
    Publication type:
    Article

  • The Initial Symptom and Motor Progression in Spinocerebellar Ataxias.

    Published in:
    Cerebellum, 2017, v. 16, n. 3, p. 615, doi. 10.1007/s12311-016-0836-3
    By:
    • Luo, Lan;
    • Wang, Jie;
    • Lo, Raymond;
    • Figueroa, Karla;
    • Pulst, Stefan;
    • Kuo, Pei-Hsin;
    • Perlman, Susan;
    • Wilmot, George;
    • Gomez, Christopher;
    • Schmahmann, Jeremy;
    • Paulson, Henry;
    • Shakkottai, Vikram;
    • Ying, Sarah;
    • Zesiewicz, Theresa;
    • Bushara, Khalaf;
    • Geschwind, Michael;
    • Xia, Guangbin;
    • Subramony, S;
    • Ashizawa, Tetsuo;
    • Kuo, Sheng-Han
    Publication type:
    Article

  • Strabismus and Micro-Opsoclonus in Machado-Joseph Disease.

    Published in:
    Cerebellum, 2016, v. 15, n. 4, p. 491, doi. 10.1007/s12311-015-0718-0
    By:
    • Ghasia, Fatema;
    • Wilmot, George;
    • Ahmed, Anwar;
    • Shaikh, Aasef
    Publication type:
    Article

  • Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 1, p. 4, doi. 10.1002/acn3.51897
    By:
    • Lynch, David R.;
    • Goldsberry, Angie;
    • Rummey, Christian;
    • Farmer, Jennifer;
    • Boesch, Sylvia;
    • Delatycki, Martin B.;
    • Giunti, Paola;
    • Hoyle, J. Chad;
    • Mariotti, Caterina;
    • Mathews, Katherine D.;
    • Nachbauer, Wolfgang;
    • Perlman, Susan;
    • Subramony, S.H.;
    • Wilmot, George;
    • Zesiewicz, Theresa;
    • Weissfeld, Lisa;
    • Meyer, Colin
    Publication type:
    Article

  • Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 6, p. 1239, doi. 10.1002/acn3.51352
    By:
    • Rummey, Christian;
    • Flynn, John M.;
    • Corben, Louise A.;
    • Delatycki, Martin B.;
    • Wilmot, George;
    • Subramony, Sub H.;
    • Bushara, Khalaf;
    • Duquette, Antoine;
    • Gomez, Christopher M.;
    • Hoyle, J. Chad;
    • Roxburgh, Richard;
    • Seeberger, Lauren;
    • Yoon, Grace;
    • Mathews, Katherine D.;
    • Zesiewicz, Theresa;
    • Perlman, Susan;
    • Lynch, David R.
    Publication type:
    Article

  • Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 1, p. 15, doi. 10.1002/acn3.660
    By:
    • Lynch, David R.;
    • Farmer, Jennifer;
    • Hauser, Lauren;
    • Blair, Ian A.;
    • Wang, Qing Qing;
    • Mesaros, Clementina;
    • Snyder, Nathaniel;
    • Boesch, Sylvia;
    • Chin, Melanie;
    • Delatycki, Martin B.;
    • Giunti, Paola;
    • Goldsberry, Angela;
    • Hoyle, Chad;
    • McBride, Michael G.;
    • Nachbauer, Wolfgang;
    • O'Grady, Megan;
    • Perlman, Susan;
    • Subramony, S. H.;
    • Wilmot, George R.;
    • Zesiewicz, Theresa
    Publication type:
    Article

  • Impact of diabetes in the Friedreich ataxia clinical outcome measures study.

    Published in:
    Annals of Clinical & Translational Neurology, 2017, v. 4, n. 9, p. 622, doi. 10.1002/acn3.439
    By:
    • McCormick, Ashley;
    • Farmer, Jennifer;
    • Perlman, Susan;
    • Delatycki, Martin;
    • Wilmot, George;
    • Matthews, Katherine;
    • Yoon, Grace;
    • Hoyle, Chad;
    • Subramony, Sub H.;
    • Zesiewicz, Theresa;
    • Lynch, David R.;
    • McCormack, Shana E.
    Publication type:
    Article

  • Progression of Friedreich ataxia: quantitative characterization over 5 years.

    Published in:
    Annals of Clinical & Translational Neurology, 2016, v. 3, n. 9, p. 684, doi. 10.1002/acn3.332
    By:
    • Patel, Maya;
    • Isaacs, Charles J.;
    • Seyer, Lauren;
    • Brigatti, Karlla;
    • Gelbard, Sarah;
    • Strawser, Cassandra;
    • Foerster, Debbie;
    • Shinnick, Julianna;
    • Schadt, Kimberly;
    • Yiu, Eppie M.;
    • Delatycki, Martin B.;
    • Perlman, Susan;
    • Wilmot, George R.;
    • Zesiewicz, Theresa;
    • Mathews, Katherine;
    • Gomez, Christopher M.;
    • Yoon, Grace;
    • Subramony, Sub H.;
    • Brocht, Alicia;
    • Farmer, Jennifer
    Publication type:
    Article

  • Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).

    Published in:
    Annals of Neurology, 2021, v. 89, n. 2, p. 212, doi. 10.1002/ana.25934
    By:
    • Lynch, David R.;
    • Chin, Melanie P.;
    • Delatycki, Martin B.;
    • Subramony, S. H.;
    • Corti, Manuela;
    • Hoyle, J. Chad;
    • Boesch, Sylvia;
    • Nachbauer, Wolfgang;
    • Mariotti, Caterina;
    • Mathews, Katherine D.;
    • Giunti, Paola;
    • Wilmot, George;
    • Zesiewicz, Theresa;
    • Perlman, Susan;
    • Goldsberry, Angie;
    • O'Grady, Megan;
    • Meyer, Colin J.
    Publication type:
    Article

  • FXN methylation predicts expression and clinical outcome in Friedreich ataxia.

    Published in:
    Annals of Neurology, 2012, v. 71, n. 4, p. 487, doi. 10.1002/ana.22671
    By:
    • Evans-Galea, Marguerite V.;
    • Carrodus, Nissa;
    • Rowley, Simone M.;
    • Corben, Louise A.;
    • Tai, Geneieve;
    • Saffery, Richard;
    • Galati, John C.;
    • Wong, Nicholas C.;
    • Craig, Jeffrey M.;
    • Lynch, David R.;
    • Regner, Sean R.;
    • Brocht, Alicia F. D.;
    • Perlman, Susan L.;
    • Bushara, Khalaf O.;
    • Gomez, Christopher M.;
    • Wilmot, George R.;
    • Li, Lingli;
    • Varley, Elizabeth;
    • Delatycki, Martin B.;
    • Sarsero, Joseph P.
    Publication type:
    Article

  • SARA captures disparate progression and responsiveness in spinocerebellar ataxias.

    Published in:
    Journal of Neurology, 2024, v. 271, n. 7, p. 3743, doi. 10.1007/s00415-024-12475-1
    By:
    • Petit, Emilien;
    • Schmitz-Hübsch, Tanja;
    • Coarelli, Giulia;
    • Jacobi, Heike;
    • Heinzmann, Anna;
    • Figueroa, Karla P.;
    • Perlman, Susan L.;
    • Gomez, Christopher M.;
    • Wilmot, George R.;
    • Schmahmann, Jeremy D.;
    • Ying, Sarah H.;
    • Zesiewicz, Theresa A.;
    • Paulson, Henry L.;
    • Shakkottai, Vikram G.;
    • Bushara, Khalaf O.;
    • Kuo, Sheng-Han;
    • Geschwind, Michael D.;
    • Xia, Guangbin;
    • Pulst, Stefan M.;
    • Subramony, S. H.
    Publication type:
    Article

  • Analysis of the visual system in Friedreich ataxia.

    Published in:
    Journal of Neurology, 2013, v. 260, n. 9, p. 2362, doi. 10.1007/s00415-013-6978-z
    By:
    • Seyer, Lauren;
    • Galetta, Kristin;
    • Wilson, James;
    • Sakai, Reiko;
    • Perlman, Susan;
    • Mathews, Katherine;
    • Wilmot, George;
    • Gomez, Christopher;
    • Ravina, Bernard;
    • Zesiewicz, Theresa;
    • Bushara, Khalaf;
    • Subramony, S.;
    • Ashizawa, Tetsuo;
    • Delatycki, Martin;
    • Brocht, Alicia;
    • Balcer, Laura;
    • Lynch, David
    Publication type:
    Article

  • Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed‐Start Analysis of the MOXIe Extension.

    Published in:
    Movement Disorders, 2023, v. 38, n. 2, p. 313, doi. 10.1002/mds.29286
    By:
    • Lynch, David R.;
    • Chin, Melanie P.;
    • Boesch, Sylvia;
    • Delatycki, Martin B.;
    • Giunti, Paola;
    • Goldsberry, Angie;
    • Hoyle, J. Chad;
    • Mariotti, Caterina;
    • Mathews, Katherine D.;
    • Nachbauer, Wolfgang;
    • O'Grady, Megan;
    • Perlman, Susan;
    • Subramony, S.H.;
    • Wilmot, George;
    • Zesiewicz, Theresa;
    • Meyer, Colin J.
    Publication type:
    Article

  • Friedreich Ataxia Clinical Outcome Measures: Natural History Evaluation in 410 Participants.

    Published in:
    Journal of Child Neurology, 2012, v. 27, n. 9, p. 1152, doi. 10.1177/0883073812448462
    By:
    • Regner, Sean R.;
    • Wilcox, Nicholas S.;
    • Friedman, Lisa S.;
    • Seyer, Lauren A.;
    • Schadt, Kim A.;
    • Brigatti, Karlla W.;
    • Perlman, Susan;
    • Delatycki, Martin;
    • Wilmot, George R.;
    • Gomez, Christopher M.;
    • Bushara, Khalaf O.;
    • Mathews, Katherine D.;
    • Subramony, S. H.;
    • Ashizawa, Tetsuo;
    • Ravina, Bernard;
    • Brocht, Alicia;
    • Farmer, Jennifer M.;
    • Lynch, David R.
    Publication type:
    Article

  • C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias.

    Published in:
    2018
    By:
    • Figueroa, Karla P.;
    • Gan, Shi‐Rui;
    • Perlman, Susan;
    • Wilmot, George;
    • Gomez, Christopher M.;
    • Schmahmann, Jeremy;
    • Paulson, Henry;
    • Shakkottai, Vikram G.;
    • Ying, Sarah H.;
    • Zesiewicz, Theresa;
    • Bushara, Khalaf;
    • Geschwind, Michael;
    • Xia, Guangbin;
    • Subramony, S. H.;
    • Ashizawa, Tetsuo;
    • Pulst, Stefan M.;
    • Kuo, Sheng‐Han;
    • Gan, Shi-Rui;
    • Kuo, Sheng-Han
    Publication type:
    Letter

  • Coenzyme Q10 and spinocerebellar ataxias.

    Published in:
    Movement Disorders, 2015, v. 30, n. 2, p. 214, doi. 10.1002/mds.26088
    By:
    • Lo, Raymond Y.;
    • Figueroa, Karla P.;
    • Pulst, Stefan M.;
    • Lin, Chi‐Ying;
    • Perlman, Susan;
    • Wilmot, George;
    • Gomez, Christopher;
    • Schmahmann, Jeremy;
    • Paulson, Henry;
    • Shakkottai, Vikram G.;
    • Ying, Sarah;
    • Zesiewicz, Theresa;
    • Bushara, Khalaf;
    • Geschwind, Michael;
    • Xia, Guangbin;
    • Subramony, S.H.;
    • Ashizawa, Tetsuo;
    • Kuo, Sheng‐Han
    Publication type:
    Article

  • Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design.

    Published in:
    Movement Disorders, 2010, v. 25, n. 4, p. 426, doi. 10.1002/mds.22912
    By:
    • Friedman, Lisa S.;
    • Farmer, Jennifer M.;
    • Perlman, Susan;
    • Wilmot, George;
    • Gomez, Christopher M.;
    • Bushara, Khalaf O.;
    • Mathews, Katherine D.;
    • Subramony, S. H.;
    • Ashizawa, Tetsuo;
    • Balcer, Laura J.;
    • Wilson, Robert B.;
    • Lynch, David R.
    Publication type:
    Article

  • Frataxin levels in peripheral tissue in Friedreich ataxia.

    Published in:
    Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 831, doi. 10.1002/acn3.225
    By:
    • Lazaropoulos, Michael;
    • Dong, Yina;
    • Clark, Elisia;
    • Greeley, Nathaniel R.;
    • Seyer, Lauren A.;
    • Brigatti, Karlla W.;
    • Christie, Carlton;
    • Perlman, Susan L.;
    • Wilmot, George R.;
    • Gomez, Christoper M.;
    • Mathews, Katherine D.;
    • Yoon, Grace;
    • Zesiewicz, Theresa;
    • Hoyle, Chad;
    • Subramony, Sub H.;
    • Brocht, Alicia F.;
    • Farmer, Jennifer M.;
    • Wilson, Robert B.;
    • Deutsch, Eric C.;
    • Lynch, David R.
    Publication type:
    Article