Works by Sharma, Nutan

Results: 61
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    Low CSF 5-HIAA in Myoclonus Dystonia.

    Published in:
    2017
    By:
    • Peall, Kathryn J.;
    • Ng, Joanne;
    • Dy, Marisela E.;
    • Sharma, Nutan;
    • Pope, Simon;
    • Heales, Simon;
    • Friedman, Jennifer R.;
    • Kurian, Manju A.
    Publication type:
    Letter
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    Isolated Cervical Dystonia: Management and Barriers to Care.

    Published in:
    Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.591418
    By:
    • Supnet, Melanie Leigh;
    • Acuna, Patrick;
    • Carr, Samuel J.;
    • Kristoper de Guzman, Jan;
    • Al Qahtani, Xena;
    • Multhaupt-Buell, Trisha;
    • Francoeur, Taylor;
    • Aldykiewicz, Gabrielle E.;
    • Alluri, Priyanka R.;
    • Campion, Lindsey;
    • Paul, Lisa;
    • Ozelius, Laurie;
    • Penney, Ellen B.;
    • Stephen, Christopher D.;
    • Dy-Hollins, Marisela;
    • Sharma, Nutan
    Publication type:
    Article
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    Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias.

    Published in:
    PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0155302
    By:
    • Waugh, Jeff L.;
    • Kuster, John K.;
    • Levenstein, Jacob M.;
    • Makris, Nikos;
    • Multhaupt-Buell, Trisha J.;
    • Sudarsky, Lewis R.;
    • Breiter, Hans C.;
    • Sharma, Nutan;
    • Blood, Anne J.
    Publication type:
    Article
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    Functional validation of novel variants in B4GALNT1 associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2590, doi. 10.1002/ajmg.a.62880
    By:
    • Alecu, Julian Emanuel;
    • Ohmi, Yuhsuke;
    • Bhuiyan, Robiul H.;
    • Inamori, Kei‐ichiro;
    • Nitta, Takahiro;
    • Saffari, Afshin;
    • Jumo, Hellen;
    • Ziegler, Marvin;
    • de Gusmao, Claudio Melo;
    • Sharma, Nutan;
    • Ohno, Shiho;
    • Manabe, Noriyoshi;
    • Yamaguchi, Yoshiki;
    • Kambe, Mariko;
    • Furukawa, Keiko;
    • Sahin, Mustafa;
    • Inokuchi, Jin‐ichi;
    • Furakawa, Koichi;
    • Ebrahimi‐Fakhari, Darius
    Publication type:
    Article
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    Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine.

    Published in:
    Brain: A Journal of Neurology, 2009, v. 132, n. 9, p. 2336, doi. 10.1093/brain/awp194
    By:
    • Martella, Giuseppina;
    • Tassone, Annalisa;
    • Sciamanna, Giuseppe;
    • Platania, Paola;
    • Cuomo, Dario;
    • Viscomi, Maria Teresa;
    • Bonsi, Paola;
    • Cacci, Emanuele;
    • Biagioni, Stefano;
    • Usiello, Alessandro;
    • Bernardi, Giorgio;
    • Sharma, Nutan;
    • Standaert, David G.;
    • Pisani, Antonio
    Publication type:
    Article
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    Pallidal deep brain stimulation for dystonia: a case series.

    Published in:
    Journal of Neurosurgery, 2013, p. 582, doi. 10.3171/2013.8.PEDS13134
    By:
    • PETROSSIAN, MELITA T.;
    • PAUL, LISA R.;
    • MULTHAUPT-BUELL, TRISHA J.;
    • ECKHARDT, CHRISTINE;
    • HAYES, MLCHAEL T.;
    • DUHAIME, ANN-CHRISTINE;
    • ESKANDAR, EMAD N.;
    • SHARMA, NUTAN
    Publication type:
    Article
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    Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.

    Published in:
    2022
    By:
    • Campion, Lindsey N.;
    • Mejia Maza, Alan;
    • Yadav, Rachita;
    • Penney, Ellen B.;
    • Murcar, Micaela G.;
    • Correia, Kevin;
    • Gillis, Tammy;
    • Fernandez-Cerado, Cara;
    • Velasco-Andrada, M. Salvie;
    • Legarda, G. Paul;
    • Ganza-Bautista, Niecy G.;
    • Lagarde, J. Benedict B.;
    • Acuña, Patrick J.;
    • Multhaupt-Buell, Trisha;
    • Aldykiewicz, Gabrielle;
    • Supnet, Melanie L.;
    • De Guzman, Jan K.;
    • Go, Criscely;
    • Sharma, Nutan;
    • Munoz, Edwin L.
    Publication type:
    Correction Notice
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    Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.

    Published in:
    Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01349-0
    By:
    • Campion, Lindsey N.;
    • Mejia Maza, Alan;
    • Yadav, Rachita;
    • Penney, Ellen B.;
    • Murcar, Micaela G.;
    • Correia, Kevin;
    • Gillis, Tammy;
    • Fernandez-Cerado, Cara;
    • Velasco-Andrada, M. Salvie;
    • Legarda, G. Paul;
    • Ganza-Bautista, Niecy G.;
    • Lagarde, J. Benedict B.;
    • Acuña, Patrick J.;
    • Multhaupt-Buell, Trisha;
    • Aldykiewicz, Gabrielle;
    • Supnet, Melanie L.;
    • De Guzman, Jan K.;
    • Go, Criscely;
    • Sharma, Nutan;
    • Munoz, Edwin L.
    Publication type:
    Article
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    Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.

    Published in:
    Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01349-0
    By:
    • Campion, Lindsey N.;
    • Mejia Maza, Alan;
    • Yadav, Rachita;
    • Penney, Ellen B.;
    • Murcar, Micaela G.;
    • Correia, Kevin;
    • Gillis, Tammy;
    • Fernandez-Cerado, Cara;
    • Velasco-Andrada, M. Salvie;
    • Legarda, G. Paul;
    • Ganza-Bautista, Niecy G.;
    • Lagarde, J. Benedict B.;
    • Acuña, Patrick J.;
    • Multhaupt-Buell, Trisha;
    • Aldykiewicz, Gabrielle;
    • Supnet, Melanie L.;
    • De Guzman, Jan K.;
    • Go, Criscely;
    • Sharma, Nutan;
    • Munoz, Edwin L.
    Publication type:
    Article
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    Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.

    Published in:
    Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01349-0
    By:
    • Campion, Lindsey N.;
    • Meijia Maza, Alan;
    • Yadav, Rachita;
    • Penney, Ellen B.;
    • Murcar, Micaela G.;
    • Correia, Kevin;
    • Gillis, Tammy;
    • Fernandez-Cerado, Cara;
    • Velasco-Andrada, M. Salvie;
    • Legarda, G. Paul;
    • Ganza-Bautista, Niecy G.;
    • Lagarde, J. Benedict B.;
    • Acuña, Patrick J.;
    • Multhaupt-Buell, Trisha;
    • Aldykiewicz, Gabrielle;
    • Supnet, Melanie L.;
    • De Guzman, Jan K.;
    • Go, Criscely;
    • Sharma, Nutan;
    • Munoz, Edwin L.
    Publication type:
    Article
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    Secondary Worsening Following DYT1 Dystonia Deep Brain Stimulation: A Multi-country Cohort.

    Published in:
    Frontiers in Human Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fnhum.2020.00242
    By:
    • Tsuboi, Takashi;
    • Cif, Laura;
    • Coubes, Philippe;
    • Ostrem, Jill L.;
    • Romero, Danilo A.;
    • Miyagi, Yasushi;
    • Lozano, Andres M.;
    • De Vloo, Philippe;
    • Haq, Ihtsham;
    • Meng, Fangang;
    • Sharma, Nutan;
    • Ozelius, Laurie J.;
    • Wagle Shukla, Aparna;
    • Cauraugh, James H.;
    • Foote, Kelly D.;
    • Okun, Michael S.
    Publication type:
    Article
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    SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene.

    Published in:
    PLoS ONE, 2020, v. 15, n. 12, p. 1, doi. 10.1371/journal.pone.0243655
    By:
    • Petrozziello, Tiziana;
    • Dios, Amanda M.;
    • Mueller, Kaly A.;
    • Vaine, Christine A.;
    • Hendriks, William T.;
    • Glajch, Kelly E.;
    • Mills, Alexandra N.;
    • Mangkalaphiban, Kotchaphorn;
    • Penney, Ellen B.;
    • Ito, Naoto;
    • Fernandez-Cerado, Cara;
    • Legarda, Gierold Paul A.;
    • Velasco-Andrada, M. Salvie;
    • Acuña, Patrick J.;
    • Ang, Mark A.;
    • Muñoz, Edwin L.;
    • Diesta, Cid Czarina E.;
    • Macalintal-Canlas, Regina;
    • Acuña, Geraldine;
    • Sharma, Nutan
    Publication type:
    Article
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    A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.

    Published in:
    Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a005827
    By:
    • Briere, Lauren C.;
    • Walker, Melissa A.;
    • High, Frances A.;
    • Cooper, Cynthia;
    • Rogers, Cassandra A.;
    • Callahan, Christine J.;
    • Ryosuke Ishimura;
    • Yoshinobu Ichimura;
    • Caruso, Paul A.;
    • Sharma, Nutan;
    • Brokamp, Elly;
    • Koziura, Mary E.;
    • Mohammad, Shekeeb S.;
    • Dale, Russell C.;
    • Riley, Lisa G.;
    • Phillips, John A.;
    • Masaaki Komatsu;
    • Sweetser, David A.
    Publication type:
    Article
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    Evidence for Altered Basal Ganglia-Brainstem Connections in Cervical Dystonia.

    Published in:
    PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031654
    By:
    • Blood, Anne J.;
    • Kuster, John K.;
    • Woodman, Sandra C.;
    • Kirlic, Namik;
    • Makhlouf, Miriam L.;
    • Multhaupt-Buell, Trisha J.;
    • Makris, Nikos;
    • Parent, Martin;
    • Sudarsky, Lewis R.;
    • Sjalander, Greta;
    • Breiter, Henry;
    • Breiter, Hans C.;
    • Sharma, Nutan
    Publication type:
    Article
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    Neuropathology of Dystonia.

    Published in:
    Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/d8-j6sx-b156
    By:
    • Sharma, Nutan
    Publication type:
    Article
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