Works matching Neurological disorders -- Genetic aspects


Results: 130
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    Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.

    Published in:
    Acta Neuropathologica, 2019, v. 137, n. 1, p. 71, doi. 10.1007/s00401-018-1925-9
    By:
    • Geier, Ethan G.;
    • Bourdenx, Mathieu;
    • Storm, Nadia J.;
    • Cochran, J. Nicholas;
    • Sirkis, Daniel W.;
    • Hwang, Ji-Hye;
    • Bonham, Luke W.;
    • Ramos, Eliana Marisa;
    • Diaz, Antonio;
    • Van Berlo, Victoria;
    • Dokuru, Deepika;
    • Nana, Alissa L.;
    • Karydas, Anna;
    • Balestra, Maureen E.;
    • Huang, Yadong;
    • Russo, Silvia P.;
    • Spina, Salvatore;
    • Grinberg, Lea T.;
    • Seeley, William W.;
    • Myers, Richard M.
    Publication type:
    Article
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    RNAseq analysis for the diagnosis of muscular dystrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2016, v. 3, n. 1, p. 55, doi. 10.1002/acn3.267
    By:
    • Gonorazky, Hernan;
    • Liang, Minggao;
    • Cummings, Beryl;
    • Lek, Monkol;
    • Micallef, Johann;
    • Hawkins, Cynthia;
    • Basran, Raveen;
    • Cohn, Ronald;
    • Wilson, Michael D.;
    • MacArthur, Daniel;
    • Marshall, Christian R.;
    • Ray, Peter N.;
    • Dowling, James J.
    Publication type:
    Article
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    Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase.

    Published in:
    Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0225-z
    By:
    • Malik, Anna R.;
    • Liszewska, Ewa;
    • Skalecka, Agnieszka;
    • Urbanska, Malgorzata;
    • Iyer, Anand M.;
    • Swiech, Lukasz J.;
    • Perycz, Malgorzata;
    • Parobczak, Kamil;
    • Pietruszka, Patrycja;
    • Zarebska, Malgorzata M.;
    • Macias, Matylda;
    • Kotulska, Katarzyna;
    • Borkowska, Julita;
    • Grajkowska, Wieslawa;
    • Tyburczy, Magdalena E.;
    • Jozwiak, Sergiusz;
    • Kwiatkowski, David J.;
    • Aronica, Eleonora;
    • Jaworski, Jacek
    Publication type:
    Article
    26

    Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

    Published in:
    Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0224-0
    By:
    • Ruggieri, Alessandra;
    • Brancati, Francesco;
    • Zanotti, Simona;
    • Maggi, Lorenzo;
    • Pasanisi, Maria Barbara;
    • Saredi, Simona;
    • Terracciano, Chiara;
    • Antozzi, Carlo;
    • D'Apice, Maria Rosaria;
    • Sangiuolo, Federica;
    • Novelli, Giuseppe;
    • Marshall, Christian R.;
    • Scherer, Stephen W.;
    • Morandi, Lucia;
    • Federici, Luca;
    • Massa, Roberto;
    • Mora, Marina;
    • Minassian, Berge A.
    Publication type:
    Article
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    Immunotherapy targeting toll-like receptor 2 alleviates neurodegeneration in models of synucleinopathy by modulating α-synuclein transmission and neuroinflammation.

    Published in:
    Molecular Neurodegeneration, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13024-018-0276-2
    By:
    • Kim, Changyoun;
    • Spencer, Brian;
    • Rockenstein, Edward;
    • Yamakado, Hodaka;
    • Mante, Michael;
    • Adame, Anthony;
    • Fields, Jerel Adam;
    • Masliah, Deborah;
    • Iba, Michiyo;
    • Lee, He-Jin;
    • Rissman, Robert A.;
    • Lee, Seung-Jae;
    • Masliah, Eliezer
    Publication type:
    Article
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    News Briefs.

    Published in:
    2013
    Publication type:
    Journal Article
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    The Kaleidoscope of Microglial Phenotypes.

    Published in:
    Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01753
    By:
    • Dubbelaar, Marissa L.;
    • Kracht, Laura;
    • Eggen, Bart J. L.;
    • Boddeke, Erik W. G. M.
    Publication type:
    Article
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