Found: 11

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  • Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.

    Published in:
    Cerebellum, 2017, v. 16, n. 1, p. 262, doi. 10.1007/s12311-016-0769-x
    By:
    • Wiethoff, Sarah;
    • Bettencourt, Conceição;
    • Paudel, Reema;
    • Madon, Prochi;
    • Liu, Yo-Tsen;
    • Hersheson, Joshua;
    • Wadia, Noshir;
    • Desai, Joy;
    • Houlden, Henry
    Publication type:
    Article

  • Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons.

    Published in:
    eLife, 2015, p. 1, doi. 10.7554/eLife.08352
    By:
    • Pappas, Samuel S.;
    • Darr, Katherine;
    • Holley, Sandra M.;
    • Cepeda, Carlos;
    • Mabrouk, Omar S.;
    • Wong, Jenny-Marie T.;
    • LeWitt, Tessa M.;
    • Paudel, Reema;
    • Houlden, Henry;
    • Kennedy, Robert T.;
    • Levine, Michael S.;
    • Dauer, William T.
    Publication type:
    Article

  • Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

    Published in:
    Nature Genetics, 2010, v. 42, n. 2, p. 170, doi. 10.1038/ng.512
    By:
    • Landouré, Guida;
    • Zdebik, Anselm A.;
    • Martinez, Tara L.;
    • Burnett, Barrington G.;
    • Stanescu, Horia C.;
    • Inada, Hitoshi;
    • Yijun Shi;
    • Taye, Addis A.;
    • Lingling Kong;
    • Munns, Clare H.;
    • Choo, Shelly S.;
    • Phelps, Christopher B.;
    • Paudel, Reema;
    • Houlden, Henry;
    • Ludlow, Christy L.;
    • Caterina, Michael J.;
    • Gaudet, Rachelle;
    • Kleta, Robert;
    • Fischbeck, Kenneth H.;
    • Sumner, Charlotte J.
    Publication type:
    Article

  • Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions.

    Published in:
    Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0159-x
    By:
    • Paudel, Reema;
    • Kiely, Aoife;
    • Li, Abi;
    • Lashley, Tammaryn;
    • Bandopadhyay, Rina;
    • Hardy, John;
    • Jinnah, Hyder;
    • Bhatia, Kailash;
    • Houlden, Henry;
    • Holton, Janice
    Publication type:
    Article

  • DYT6 Dystonia: A Neuropathological Study.

    Published in:
    Neurodegenerative Diseases, 2016, v. 16, n. 3/4, p. 273, doi. 10.1159/000440863
    By:
    • Paudel, Reema;
    • Li, abi;
    • Hardy, John;
    • Bhatia, Kailash P.;
    • Houlden, Henry;
    • Holton, Janice
    Publication type:
    Article

  • Glucocerebrosidase mutations in clinical and pathologically proven Parkinsons disease.

    Published in:
    Brain: A Journal of Neurology, 2009, v. 132, n. 7, p. 1783, doi. 10.1093/brain/awp044
    By:
    • Neumann, Juliane;
    • Bras, Jose;
    • Deas, Emma;
    • OSullivan, Sean S.;
    • Parkkinen, Laura;
    • Lachmann, Robin H.;
    • Li, Abi;
    • Holton, Janice;
    • Guerreiro, Rita;
    • Paudel, Reema;
    • Segarane, Badmavady;
    • Singleton, Andrew;
    • Lees, Andrew;
    • Hardy, John;
    • Houlden, Henry;
    • Revesz, Tamas;
    • Wood, Nicholas W.
    Publication type:
    Article

  • Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

    Published in:
    2013
    By:
    • Hersheson, Joshua;
    • Mencacci, Niccolo E;
    • Davis, Mary;
    • Macdonald, Nicola;
    • Trabzuni, Daniah;
    • Ryten, Mina;
    • Pittman, Alan;
    • Paudel, Reema;
    • Kara, Eleanna;
    • Fawcett, Katherine;
    • Plagnol, Vincent;
    • Bhatia, Kailash P;
    • Medlar, Alan J;
    • Stanescu, Horia C;
    • Hardy, John;
    • Kleta, Robert;
    • Wood, Nicholas W;
    • Houlden, Henry
    Publication type:
    journal article

  • Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

    Published in:
    Annals of Neurology, 2013, v. 73, n. 4, p. 546, doi. 10.1002/ana.23832
    By:
    • Hersheson, Joshua;
    • Mencacci, Niccolo E.;
    • Davis, Mary;
    • MacDonald, Nicola;
    • Trabzuni, Daniah;
    • Ryten, Mina;
    • Pittman, Alan;
    • Paudel, Reema;
    • Kara, Eleanna;
    • Fawcett, Katherine;
    • Plagnol, Vincent;
    • Bhatia, Kailash P.;
    • Medlar, Alan J.;
    • Stanescu, Horia C.;
    • Hardy, John;
    • Kleta, Robert;
    • Wood, Nicholas W.;
    • Houlden, Henry
    Publication type:
    Article

  • SNCA variants are associated with increased risk for multiple system atrophy.

    Published in:
    Annals of Neurology, 2009, v. 65, n. 5, p. 610, doi. 10.1002/ana.21685
    By:
    • Scholz, Sonja W.;
    • Houlden, Henry;
    • Schulte, Claudia;
    • Sharma, Manu;
    • Li, Abi;
    • Berg, Daniela;
    • Melchers, Anna;
    • Paudel, Reema;
    • Gibbs, J. Raphael;
    • Simon-Sanchez, Javier;
    • Paisan-Ruiz, Coro;
    • Bras, Jose;
    • Ding, Jinhui;
    • Chen, Honglei;
    • Traynor, Bryan J.;
    • Arepalli, Sampath;
    • Zonozi, Ryan R.;
    • Revesz, Tamas;
    • Holton, Janice;
    • Wood, Nick
    Publication type:
    Article

  • THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations.

    Published in:
    Movement Disorders, 2012, v. 27, n. 10, p. 1290, doi. 10.1002/mds.25146
    By:
    • Xiromerisiou, Georgia;
    • Houlden, Henry;
    • Scarmeas, Nikolaos;
    • Stamelou, Maria;
    • Kara, Eleanna;
    • Hardy, John;
    • Lees, Andrew J.;
    • Korlipara, Prasad;
    • Limousin, Patricia;
    • Paudel, Reema;
    • Hadjigeorgiou, Georgios M.;
    • Bhatia, Kailash P.
    Publication type:
    Article

  • Indian-subcontinent NBIA: Unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms.

    Published in:
    Movement Disorders, 2010, v. 25, n. 10, p. 1424, doi. 10.1002/mds.23095
    By:
    • Aggarwal, Annu;
    • Schneider, Susanne A.;
    • Houlden, Henry;
    • Silverdale, Monty;
    • Paudel, Reema;
    • Paisan-Ruiz, Coro;
    • Desai, Shrinivas;
    • Munshi, Mihir;
    • Sanghvi, Darshana;
    • Hardy, John;
    • Bhatia, Kailash P.;
    • Bhatt, Mohit
    Publication type:
    Article