Found: 62

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  • Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation.

    Published in:
    2019
    By:
    • Sarva, Harini;
    • Trosch, Richard;
    • Kiss, Zelma H.T.;
    • Furtado, Sarah;
    • Luciano, Marta San;
    • Glickman, Amanda;
    • Raymond, Deborah;
    • Ozelius, Laurie J.;
    • Bressman, Susan B.;
    • Saunders‐Pullman, Rachel;
    • Saunders-Pullman, Rachel
    Publication type:
    letter

  • Application of the Movement Disorder Society prodromal criteria in healthy G2019S-LRRK2 carriers.

    Published in:
    2018
    By:
    • Mirelman, Anat;
    • Saunders‐Pullman, Rachel;
    • Alcalay, Roy N.;
    • Shustak, Shiran;
    • Thaler, Avner;
    • Gurevich, Tanya;
    • Raymond, Deborah;
    • Mejia‐Santana, Helen;
    • Orbe Reilly, Martha;
    • Ozelius, Laurie;
    • Clark, Lorraine;
    • Gana‐Weisz, Mali;
    • Bar‐Shira, Anat;
    • Orr‐Utreger, Avi;
    • Bressman, Susan B.;
    • Marder, Karen;
    • Giladi, Nir;
    • the AJ LRRK2 Consortium;
    • Saunders-Pullman, Rachel;
    • Mejia-Santana, Helen
    Publication type:
    journal article

  • Arm swing as a potential new prodromal marker of Parkinson's disease.

    Published in:
    2016
    By:
    • Mirelman, Anat;
    • Bernad‐Elazari, Hagar;
    • Thaler, Avner;
    • Giladi‐Yacobi, Eytan;
    • Gurevich, Tanya;
    • Gana‐Weisz, Mali;
    • Saunders‐Pullman, Rachel;
    • Raymond, Deborah;
    • Doan, Nancy;
    • Bressman, Susan B.;
    • Marder, Karen S.;
    • Alcalay, Roy N.;
    • Rao, Ashwini K.;
    • Berg, Daniela;
    • Brockmann, Kathrin;
    • Aasly, Jan;
    • Waro, Bjørg Johanne;
    • Tolosa, Eduardo;
    • Vilas, Dolores;
    • Pont‐Sunyer, Claustre
    Publication type:
    journal article

  • REM sleep behavior disorder, as assessed by questionnaire, in G2019S LRRK2 mutation PD and carriers.

    Published in:
    2015
    By:
    • Saunders‐Pullman, Rachel;
    • Alcalay, Roy N.;
    • Mirelman, Anat;
    • Wang, Cuiling;
    • Luciano, Marta San;
    • Ortega, Roberto A.;
    • Glickman, Amanda;
    • Raymond, Deborah;
    • Mejia‐Santana, Helen;
    • Doan, Nancy;
    • Johannes, Brooke;
    • Yasinovsky, Kira;
    • Ozelius, Laurie;
    • Clark, Lorraine;
    • Orr‐Utreger, Avi;
    • Marder, Karen;
    • Giladi, Nir;
    • Bressman, Susan B.
    Publication type:
    journal article

  • Low-variance RNAs identify Parkinson's disease molecular signature in blood.

    Published in:
    Movement Disorders, 2015, v. 30, n. 6, p. 813, doi. 10.1002/mds.26205
    By:
    • Chikina, Maria D.;
    • Gerald, Christophe P.;
    • Li, Xianting;
    • Ge, Yongchao;
    • Pincas, Hanna;
    • Nair, Venugopalan D.;
    • Wong, Aaron K.;
    • Krishnan, Arjun;
    • Troyanskaya, Olga G.;
    • Raymond, Deborah;
    • Saunders‐Pullman, Rachel;
    • Bressman, Susan B.;
    • Yue, Zhenyu;
    • Sealfon, Stuart C.
    Publication type:
    Article

  • Heterogeneity in primary dystonia: Lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.

    Published in:
    Movement Disorders, 2014, v. 29, n. 6, p. 812, doi. 10.1002/mds.25818
    By:
    • Saunders‐Pullman, Rachel;
    • Fuchs, Tania;
    • San Luciano, Marta;
    • Raymond, Deborah;
    • Brashear, Alison;
    • Ortega, Robert;
    • Deik, Andres;
    • Ozelius, Laurie J.;
    • Bressman, Susan B.
    Publication type:
    Article

  • Reply: Dystonia after severe head injuries.

    Published in:
    Movement Disorders, 2014, v. 29, n. 4, p. 578, doi. 10.1002/mds.25861
    By:
    • Albanese, Alberto;
    • Bhatia, Kailash;
    • Bressman, Susan B.;
    • DeLong, Mahlon R.;
    • Fahn, Stanley;
    • Fung, Victor S.C.;
    • Hallett, Mark;
    • Jankovic, Joseph;
    • Jinnah, H.A.;
    • Klein, Christine;
    • Lang, Anthony E.;
    • Mink, Jonathan W.;
    • Teller, Jan K.
    Publication type:
    Article

  • Phenomenology and classification of dystonia: A consensus update.

    Published in:
    Movement Disorders, 2013, v. 28, n. 7, p. 863, doi. 10.1002/mds.25475
    By:
    • Albanese, Alberto;
    • Bhatia, Kailash;
    • Bressman, Susan B.;
    • DeLong, Mahlon R.;
    • Fahn, Stanley;
    • Fung, Victor S.C.;
    • Hallett, Mark;
    • Jankovic, Joseph;
    • Jinnah, Hyder A.;
    • Klein, Christine;
    • Lang, Anthony E.;
    • Mink, Jonathan W.;
    • Teller, Jan K.
    Publication type:
    Article

  • Primary dystonia: Moribund or viable.

    Published in:
    Movement Disorders, 2013, v. 28, n. 7, p. 906, doi. 10.1002/mds.25528
    By:
    • Bressman, Susan B.;
    • Saunders-Pullman, Rachel
    Publication type:
    Article

  • LRRK2 G2019S mutations may be increased in Puerto Ricans.

    Published in:
    Movement Disorders, 2011, v. 26, n. 9, p. 1771, doi. 10.1002/mds.23632
    By:
    • Saunders-Pullman, Rachel;
    • Cabassa, Jose;
    • San Luciano, Marta;
    • Stanley, Kaili;
    • Raymond, Deborah;
    • Ozelius, Laurie J.;
    • Bressman, Susan B.
    Publication type:
    Article

  • Milestones in dystonia.

    Published in:
    Movement Disorders, 2011, v. 26, n. 6, p. 1106, doi. 10.1002/mds.23775
    By:
    • Ozelius, Laurie J.;
    • Lubarr, Naomi;
    • Bressman, Susan B.
    Publication type:
    Article

  • Phenotypic spectrum of musician's dystonia: A task-specific disorder?

    Published in:
    Movement Disorders, 2011, v. 26, n. 3, p. 546, doi. 10.1002/mds.23526
    By:
    • Schmidt, Alexander;
    • Jabusch, Hans-Christian;
    • Altenmüller, Eckart;
    • Enders, Leonie;
    • Saunders-Pullman, Rachel;
    • Bressman, Susan B.;
    • Münchau, Alexander;
    • Klein, Christine;
    • Hagenah, Johann
    Publication type:
    Article

  • LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson disease.

    Published in:
    Movement Disorders, 2010, v. 25, n. 15, p. 2536, doi. 10.1002/mds.23314
    By:
    • Saunders-Pullman, Rachel;
    • Barrett, Matthew J.;
    • Stanley, Kaili M.;
    • Luciano, Marta San;
    • Shanker, Vicki;
    • Severt, Lawrence;
    • Hunt, Ann;
    • Raymond, Deborah;
    • Ozelius, Laurie J.;
    • Bressman, Susan B.
    Publication type:
    Article

  • Clinical expression of LRRK2 G2019S mutations in the elderly.

    Published in:
    Movement Disorders, 2010, v. 25, n. 15, p. 2571, doi. 10.1002/mds.23330
    By:
    • Luciano, Marta San;
    • Lipton, Richard B.;
    • Wang, Cuiling;
    • Katz, Mindy;
    • Zimmerman, Molly E.;
    • Sanders, Amy E.;
    • Ozelius, Laurie J.;
    • Bressman, Susan B.;
    • Saunders-Pullman, Rachel
    Publication type:
    Article

  • Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.

    Published in:
    Movement Disorders, 2010, v. 25, n. 13, p. 2183, doi. 10.1002/mds.23225
    By:
    • Sharma, Nutan;
    • Franco, Ramon A.;
    • Kuster, John K.;
    • Mitchell, Adele A.;
    • Fuchs, Tania;
    • Saunders-Pullman, Rachel;
    • Raymond, Deborah;
    • Brin, Mitchell F.;
    • Blitzer, Andrew;
    • Bressman, Susan B.;
    • Ozelius, Laurie J.
    Publication type:
    Article

  • Distribution, type, and origin of Parkin mutations: Review and case studies.

    Published in:
    Movement Disorders, 2004, v. 19, n. 10, p. 1146, doi. 10.1002/mds.20234
    By:
    • Hedrich, Katja;
    • Eskelson, Cordula;
    • Wilmot, Beth;
    • Marder, Karen;
    • Harris, Juliette;
    • Garrels, Jennifer;
    • Meija-Santana, Helen;
    • Vieregge, Peter;
    • Jacobs, Helfried;
    • Bressman, Susan B.;
    • Lang, Anthony E.;
    • Kann, Martin;
    • Abbruzzese, Giovanni;
    • Martinelli, Paolo;
    • Schwinger, Eberhard;
    • Ozelius, Laurie J.;
    • Pramstaller, Peter P.;
    • Klein, Christine;
    • Kramer, Patricia
    Publication type:
    Article

  • Parkinsonism, dystonia, and hemiatrophy.

    Published in:
    2000
    By:
    • Greene, Paul E.;
    • Bressman, Susan B.;
    • Ford, Blair;
    • Hyland, Keith;
    • Greene, P E;
    • Bressman, S B;
    • Ford, B;
    • Hyland, K
    Publication type:
    journal article

  • Multiple sclerosis in LRRK2 G2019S Parkinson's disease and isolated nigral degeneration in a homozygous variant carrier.

    Published in:
    Frontiers in Neurology, 2024, p. 01, doi. 10.3389/fneur.2024.1450654
    By:
    • Wise, Adina;
    • Ortega, Roberto A.;
    • Raymond, Deborah;
    • Cervera, Alessandra;
    • Thorn, Emma;
    • Leaver, Katherine;
    • Russell, David S.;
    • Bressman, Susan B.;
    • Crary, John F.;
    • Saunders-Pullman, Rachel
    Publication type:
    Article

  • Cerebellothalamocortical Connectivity Regulates Penetrance in Dystonia.

    Published in:
    Journal of Neuroscience, 2009, v. 29, n. 31, p. 9740, doi. 10.1523/JNEUROSCI.2300-09.2009
    By:
    • Argyelan, Miklos;
    • Carbon, Maren;
    • Niethammer, Martin;
    • Uluğ, Aziz M.;
    • Voss, Henning U.;
    • Bressman, Susan B.;
    • Dhawan, Vijay;
    • Eidelberg, David
    Publication type:
    Article

  • Benign SLC39A14 Course of Dystonia‐Parkinsonism Secondary to Inherited Manganese Accumulation.

    Published in:
    Movement Disorders Clinical Practice, 2020, v. 7, n. 5, p. 569, doi. 10.1002/mdc3.12947
    By:
    • Namnah, Montaser;
    • Bauer, Max;
    • Mor‐Shaked, Hagar;
    • Bressman, Susan B.;
    • Raymond, Deborah;
    • Ozelius, Laurie J.;
    • Arkadir, David
    Publication type:
    Article

  • GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder.

    Published in:
    Annals of Clinical & Translational Neurology, 2015, v. 2, n. 9, p. 941, doi. 10.1002/acn3.228
    By:
    • Gan‐Or, Ziv;
    • Mirelman, Anat;
    • Postuma, Ronald B.;
    • Arnulf, Isabelle;
    • Bar‐Shira, Anat;
    • Dauvilliers, Yves;
    • Desautels, Alex;
    • Gagnon, Jean‐François;
    • Leblond, Claire S.;
    • Frauscher, Birgit;
    • Alcalay, Roy N.;
    • Saunders‐Pullman, Rachel;
    • Bressman, Susan B.;
    • Marder, Karen;
    • Monaca, Christelle;
    • Högl, Birgit;
    • Orr‐Urtreger, Avi;
    • Dion, Patrick A.;
    • Montplaisir, Jacques Y.;
    • Giladi, Nir
    Publication type:
    Article

  • Olfactory identification in LRRK2 G2019S mutation carriers: a relevant marker?

    Published in:
    Annals of Clinical & Translational Neurology, 2014, v. 1, n. 9, p. 670, doi. 10.1002/acn3.95
    By:
    • Saunders‐Pullman, Rachel;
    • Mirelman, Anat;
    • Wang, Cuiling;
    • Alcalay, Roy N.;
    • San Luciano, Marta;
    • Ortega, Robert;
    • Raymond, Deborah;
    • Mejia‐Santana, Helen;
    • Ozelius, Laurie;
    • Clark, Lorraine;
    • Orr‐Utreger, Avi;
    • Marder, Karen;
    • Giladi, Nir;
    • Bressman, Susan B.
    Publication type:
    Article

  • Idiopathic dystonia among ashkenazi jews: Evidence for autosomal dominant inheritance.

    Published in:
    Annals of Neurology, 1989, v. 26, n. 5, p. 612, doi. 10.1002/ana.410260505
    By:
    • Bressman, Susan B.;
    • De Leon, Deborah;
    • Brin, Mitchell F.;
    • Risch, Neil;
    • Burke, Robert E.;
    • Greene, Paul E.;
    • Shale, Heidi;
    • Fahn, Stanley
    Publication type:
    Article

  • Mutations in GNAL cause primary torsion dystonia.

    Published in:
    Nature Genetics, 2013, v. 45, n. 1, p. 88, doi. 10.1038/ng.2496
    By:
    • Fuchs, Tania;
    • Saunders-Pullman, Rachel;
    • Masuho, Ikuo;
    • Luciano, Marta San;
    • Raymond, Deborah;
    • Factor, Stewart;
    • Lang, Anthony E;
    • Liang, Tsao-Wei;
    • Trosch, Richard M;
    • White, Sierra;
    • Ainehsazan, Edmond;
    • Hervé, Denis;
    • Sharma, Nutan;
    • Ehrlich, Michelle E;
    • Martemyanov, Kirill A;
    • Bressman, Susan B;
    • Ozelius, Laurie J
    Publication type:
    Article

  • Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.

    Published in:
    Nature Genetics, 2009, v. 41, n. 3, p. 286, doi. 10.1038/ng.304
    By:
    • Fuchs, Tania;
    • Gavarini, Sophie;
    • Saunders-Pullman, Rachel;
    • Raymond, Deborah;
    • Ehrlich, Michelle E.;
    • Bressman, Susan B.;
    • Ozelius, Laurie J.
    Publication type:
    Article

  • DYT1 dystonia increases risk taking in humans.

    Published in:
    eLife, 2016, p. 1, doi. 10.7554/eLife.14155
    By:
    • Arkadir, David;
    • Radulescu, Angela;
    • Raymond, Deborah;
    • Lubarr, Naomi;
    • Bressman, Susan B.;
    • Mazzoni, Pietro;
    • Niv, Yael
    Publication type:
    Article

  • Research priorities in spasmodic dysphonia

    Published in:
    Otolaryngology-Head & Neck Surgery, 2008, v. 139, n. 4, p. 495, doi. 10.1016/j.otohns.2008.05.624
    By:
    • Ludlow, Christy L.;
    • Adler, Charles H.;
    • Berke, Gerald S.;
    • Bielamowicz, Steven A.;
    • Blitzer, Andrew;
    • Bressman, Susan B.;
    • Hallett, Mark;
    • Jinnah, H.A.;
    • Juergens, Uwe;
    • Martin, Sandra B.;
    • Perlmutter, Joel S.;
    • Sapienza, Christine;
    • Singleton, Andrew;
    • Tanner, Caroline M.;
    • Woodson, Gayle E.
    Publication type:
    Article

  • Disordered network structure and function in dystonia: pathological connectivity vs. adaptive responses.

    Published in:
    Cerebral Cortex, 2023, v. 33, n. 11, p. 6943, doi. 10.1093/cercor/bhad012
    By:
    • Vo, An;
    • Nguyen, Nha;
    • Fujita, Koji;
    • Schindlbeck, Katharina A;
    • Rommal, Andrea;
    • Bressman, Susan B;
    • Niethammer, Martin;
    • Eidelberg, David
    Publication type:
    Article

  • LRRK2 and GBA Variants Exert Distinct Influences on Parkinson's Disease-Specific Metabolic Networks.

    Published in:
    Cerebral Cortex, 2020, v. 30, n. 5, p. 2867, doi. 10.1093/cercor/bhz280
    By:
    • Schindlbeck, Katharina A;
    • Vo, An;
    • Nguyen, Nha;
    • Tang, Chris C;
    • Niethammer, Martin;
    • Dhawan, Vijay;
    • Brandt, Vicky;
    • Saunders-Pullman, Rachel;
    • Bressman, Susan B;
    • Eidelberg, David
    Publication type:
    Article

  • Thalamocortical Connectivity Correlates with Phenotypic Variability in Dystonia.

    Published in:
    Cerebral Cortex, 2015, v. 25, n. 9, p. 3086, doi. 10.1093/cercor/bhu104
    By:
    • An Vo;
    • Wataru Sako;
    • Niethammer, Martin;
    • Carbon, Maren;
    • Bressman, Susan B.;
    • Uluğ, Aziz M.;
    • Eidelberg, David
    Publication type:
    Article

  • Digitized Spiral Drawing: A Possible Biomarker for Early Parkinson’s Disease.

    Published in:
    PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0162799
    By:
    • San Luciano, Marta;
    • Wang, Cuiling;
    • Ortega, Roberto A.;
    • Yu, Qiping;
    • Boschung, Sarah;
    • Soto-Valencia, Jeannie;
    • Bressman, Susan B.;
    • Lipton, Richard B.;
    • Pullman, Seth;
    • Saunders-Pullman, Rachel
    Publication type:
    Article

  • Disruption of network for visual perception of natural motion in primary dystonia.

    Published in:
    Human Brain Mapping, 2018, v. 39, n. 3, p. 1163, doi. 10.1002/hbm.23907
    By:
    • Fujita, Koji;
    • Sako, Wataru;
    • Vo, An;
    • Bressman, Susan B.;
    • Eidelberg, David
    Publication type:
    Article

  • The visual perception of natural motion: abnormal task-related neural activity in DYT1 dystonia.

    Published in:
    2015
    By:
    • Sako, Wataru;
    • Fujita, Koji;
    • Vo, An;
    • Rucker, Janet C.;
    • Rizzo, John-Ross;
    • Niethammer, Martin;
    • Carbon, Maren;
    • Bressman, Susan B.;
    • Uluğ, Aziz M.;
    • Eidelberg, David
    Publication type:
    journal article

  • Increased sensorimotor network activity in DYT1 dystonia: a functional imaging study.

    Published in:
    Brain: A Journal of Neurology, 2010, v. 133, n. 3, p. 690, doi. 10.1093/brain/awq017
    By:
    • Carbon, Maren;
    • Argyelan, Miklos;
    • Habeck, Christian;
    • Ghilardi, M. Felice;
    • Fitzpatrick, Toni;
    • Dhawan, Vijay;
    • Pourfar, Michael;
    • Bressman, Susan B.;
    • Eidelberg, David
    Publication type:
    Article

  • Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study.

    Published in:
    Brain: A Journal of Neurology, 2008, v. 131, n. 1, p. 146
    By:
    • Maren Carbon;
    • Maria Felice Ghilardi;
    • Miklos Argyelan;
    • Vijay Dhawan;
    • Susan B. Bressman;
    • David Eidelberg
    Publication type:
    Article

  • The phenotypic spectrum of rapid-onset dystonia–parkinsonism (RDP) and mutations in the ATP1A3 gene.

    Published in:
    Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 828, doi. 10.1093/brain/awl340
    By:
    • Allison Brashear;
    • William B. Dobyns;
    • Patricia de Carvalho Aguiar;
    • Michel Borg;
    • C. J. M. Frijns;
    • Seema Gollamudi;
    • Andrew Green;
    • João Guimaraes;
    • Bret C. Haake;
    • Christine Klein;
    • Gurutz Linazasoro;
    • Alexander Münchau;
    • Deborah Raymond;
    • David Riley;
    • Rachel Saunders-Pullman;
    • Marina A. J. Tijssen;
    • David Webb;
    • Jacek Zaremba;
    • Susan B. Bressman;
    • Laurie J. Ozelius
    Publication type:
    Article

  • Differences in Sex‐Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism.

    Published in:
    Movement Disorders, 2023, v. 38, n. 4, p. 714, doi. 10.1002/mds.29353
    By:
    • Ortega, Roberto A.;
    • Bressman, Susan B.;
    • Raymond, Deborah;
    • Ozelius, Laurie J.;
    • Wang, Cuiling;
    • Bennett, Steffany A.L.;
    • Saunders‐Pullman, Rachel
    Publication type:
    Article

  • Differences in Sex‐Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism.

    Published in:
    Movement Disorders, 2022, v. 37, n. 11, p. 2217, doi. 10.1002/mds.29197
    By:
    • Ortega, Roberto A.;
    • Bressman, Susan B.;
    • Raymond, Deborah;
    • Ozelius, Laurie J.;
    • Katsnelson, Viktoriya;
    • Leaver, Katherine;
    • Swan, Matthew C.;
    • Shanker, Vicki;
    • Miravite, Joan;
    • Wang, Cuiling;
    • Bennett, Steffany A.L.;
    • Saunders‐Pullman, Rachel
    Publication type:
    Article

  • Assessment of Glucocerebrosidase Enzyme Activity in Parkinson Disease Using Multiple Approaches.

    Published in:
    Movement Disorders, 2022, v. 37, n. 3, p. 655, doi. 10.1002/mds.28951
    By:
    • Ortega, Roberto A.;
    • Bodamer, Olaf;
    • Peake, Roy W.A.;
    • Raymond, Deborah;
    • Bressman, Susan B.;
    • Saunders‐Pullman, Rachel
    Publication type:
    Article

  • Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression.

    Published in:
    JAMA Network Open, 2021, v. 4, n. 4, p. e215845, doi. 10.1001/jamanetworkopen.2021.5845
    By:
    • Ortega, Roberto A.;
    • Wang, Cuiling;
    • Raymond, Deborah;
    • Bryant, Nicole;
    • Scherzer, Clemens R.;
    • Thaler, Avner;
    • Alcalay, Roy N.;
    • West, Andrew B.;
    • Mirelman, Anat;
    • Kuras, Yuliya;
    • Marder, Karen S.;
    • Giladi, Nir;
    • Ozelius, Laurie J.;
    • Bressman, Susan B.;
    • Saunders-Pullman, Rachel
    Publication type:
    Article

  • Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson's disease.

    Published in:
    NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00599-6
    By:
    • Miltenberger-Miltenyi, Gabriel;
    • Ortega, Roberto A.;
    • Domingo, Aloysius;
    • Yadav, Rachita;
    • Nishiyama, Ayumi;
    • Raymond, Deborah;
    • Katsnelson, Viktoriya;
    • Urval, Nikita;
    • Swan, Matthew;
    • Shanker, Vicki;
    • Miravite, Joan;
    • Walker, Ruth H.;
    • Bressman, Susan B.;
    • Ozelius, Laurie J.;
    • Cabassa, José C.;
    • Saunders-Pullman, Rachel
    Publication type:
    Article

  • Clinical profiles and outcomes of deep brain stimulation in G2019S LRRK2 Parkinson disease.

    Published in:
    Journal of Neurosurgery, 2022, v. 137, n. 1, p. 184, doi. 10.3171/2021.7.jns21190
    By:
    • Leaver, Katherine;
    • Viser, Aaron;
    • Kopell, Brian H.;
    • Ortega, Roberto A.;
    • Miravite, Joan;
    • Okun, Michael S.;
    • Elango, Sonya;
    • Raymond, Deborah;
    • Bressman, Susan B.;
    • Saunders-Pullman, Rachel;
    • Luciano, Marta San
    Publication type:
    Article

  • The metabolic pathology of dopa‐responsive dystonia.

    Published in:
    Annals of Neurology, 2005, v. 57, n. 4, p. 596
    By:
    • Kotaro Asanuma;
    • Yilong Ma;
    • Chaorui Huang;
    • Maren Carbon‐Correll;
    • Christine Edwards;
    • Deborah Raymond;
    • Susan B. Bressman;
    • James R. Moeller;
    • David Eidelberg
    Publication type:
    Article

  • The R98Q variation in DJ-1 represents a rare polymorphism.

    Published in:
    Annals of Neurology, 2004, v. 55, n. 1, p. 145
    By:
    • Katja Hedrich;
    • Nora Schäfer;
    • Robert Hering;
    • Johann Hagenah;
    • Andrea J. Lanthaler;
    • Eberhard Schwinger;
    • Patricia L. Kramer;
    • Laurie J. Ozelius;
    • Susan B. Bressman;
    • Giovanni Abbruzzese;
    • Paolo Martinelli;
    • Vladimir Kostic;
    • Peter P. Pramstaller;
    • Peter Vieregge;
    • Olaf Riess
    Publication type:
    Article

  • Primary dystonia: Is abnormal functional brain architecture linked to genotype?

    Published in:
    Annals of Neurology, 2002, v. 52, n. 6, p. 853, doi. 10.1002/ana.10418
    By:
    • Tros̆t, Maja;
    • Carbon, Maren;
    • Edwards, Christine;
    • Ma, Yilong;
    • Raymond, Deborah;
    • Mentis, Marc J.;
    • Moeller, James R.;
    • Bressman, Susan B.;
    • Eidelberg, David
    Publication type:
    Article

  • ε-sarcoglycan mutations found in combination with other dystonia gene mutations.

    Published in:
    Annals of Neurology, 2002, v. 52, n. 5, p. 675, doi. 10.1002/ana.10358
    By:
    • Klein, Christine;
    • Liu, Liu;
    • Doheny, Dana;
    • Kock, Norman;
    • Müller, Birgitt;
    • De Carvalho Aguiar, Patricia;
    • Leung, Joanne;
    • De Leon, Deborah;
    • Bressman, Susan B.;
    • Silverman, Jeremy;
    • Smith, Christopher;
    • Danisi, Fabio;
    • Morrison, Chris;
    • Walker, Ruth H.;
    • Velickovic, Miodrag;
    • Schwinger, Eberhard;
    • Kramer, Patricia L.;
    • Breakefield, Xandra O.;
    • Brin, Mitchell F.;
    • Ozelius, Laurie J.
    Publication type:
    Article

  • Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31.

    Published in:
    1999
    By:
    • Nygaard, Torbjoern G.;
    • Raymond, Deborah;
    • Chen, Caiping;
    • Nishino, Ichizo;
    • Greene, Paul E.;
    • Jennings, Danna;
    • Heiman, Gary A.;
    • Klein, Christine;
    • Saunders-Pullman, Rachel J.;
    • Kramer, Patricia;
    • Ozelius, Laurie J.;
    • Bressman, Susan B.;
    • Nygaard, T G;
    • Raymond, D;
    • Chen, C;
    • Nishino, I;
    • Greene, P E;
    • Jennings, D;
    • Heiman, G A;
    • Klein, C
    Publication type:
    journal article

  • Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.

    Published in:
    1999
    By:
    • Kramer, Patricia L.;
    • Mineta, Mari;
    • Klein, Christine;
    • Schilling, Karla;
    • De Leon, Deborah;
    • Farlow, Martin R.;
    • Breakefield, Xandra O.;
    • Bressman, Susan B.;
    • Dobyns, William B.;
    • Ozelius, Laurie J.;
    • Brashear, Allison;
    • Kramer, P L;
    • Mineta, M;
    • Klein, C;
    • Schilling, K;
    • de Leon, D;
    • Farlow, M R;
    • Breakefield, X O;
    • Bressman, S B;
    • Dobyns, W B
    Publication type:
    journal article

  • Functional brain networks in DYT1 dystonia.

    Published in:
    Annals of Neurology, 1998, v. 44, n. 3, p. 303, doi. 10.1002/ana.410440304
    By:
    • Eidelberg, David;
    • Moeller, James R.;
    • Antonini, Angelo;
    • Kazumata, Ken;
    • Nakamura, Toshitaka;
    • Dhawan, Vijay;
    • Spetsieris, Phoebe;
    • DeLeon, Deborah;
    • Bressman, Susan B.;
    • Fahn, Stanley
    Publication type:
    Article

  • Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation.

    Published in:
    Annals of Neurology, 1994, v. 36, n. 5, p. 771, doi. 10.1002/ana.410360514
    By:
    • Bressman, Susan B.;
    • de Leon, Deborah;
    • Kramer, Patricia L.;
    • Ozelius, Laurie J.;
    • Brin, Mitchell F.;
    • Greene, Paul E.;
    • Fahn, Stanley;
    • Breakefield, Xandra O.;
    • Risch, Neil J.
    Publication type:
    Article