Works matching IS 00068950 AND DT 2013 AND VI 136 AND IP 3

Results: 42
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    Editorial.

    Published in:
    2013
    By:
    • Compston, Alastair
    Publication type:
    Journal Article
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    Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour.

    Published in:
    2013
    By:
    • Hernández-Hernández, Oscar;
    • Guiraud-Dogan, Céline;
    • Sicot, Géraldine;
    • Huguet, Aline;
    • Luilier, Sabrina;
    • Steidl, Esther;
    • Saenger, Stefanie;
    • Marciniak, Elodie;
    • Obriot, Hélène;
    • Chevarin, Caroline;
    • Nicole, Annie;
    • Revillod, Lucile;
    • Charizanis, Konstantinos;
    • Lee, Kuang-Yung;
    • Suzuki, Yasuhiro;
    • Kimura, Takashi;
    • Matsuura, Tohru;
    • Cisneros, Bulmaro;
    • Swanson, Maurice S;
    • Trovero, Fabrice
    Publication type:
    journal article
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    Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

    Published in:
    2013
    By:
    • Cossins, Judith;
    • Belaya, Katsiaryna;
    • Hicks, Debbie;
    • Salih, Mustafa A;
    • Finlayson, Sarah;
    • Carboni, Nicola;
    • Liu, Wei Wei;
    • Maxwell, Susan;
    • Zoltowska, Katarzyna;
    • Farsani, Golara Torabi;
    • Laval, Steven;
    • Seidhamed, Mohammed Zain;
    • Donnelly, Peter;
    • Bentley, David;
    • McGowan, Simon J;
    • Müller, Juliane;
    • Palace, Jacqueline;
    • Lochmüller, Hanns;
    • Beeson, David;
    • WGS500 consortium
    Publication type:
    journal article
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    Epigenetic transcriptional activation of monocyte chemotactic protein 3 contributes to long-lasting neuropathic pain.

    Published in:
    2013
    By:
    • Imai, Satoshi;
    • Ikegami, Daigo;
    • Yamashita, Akira;
    • Shimizu, Toshikazu;
    • Narita, Michiko;
    • Niikura, Keiichi;
    • Furuya, Masaharu;
    • Kobayashi, Yasuhisa;
    • Miyashita, Kazuhiko;
    • Okutsu, Daiki;
    • Kato, Akira;
    • Nakamura, Atsushi;
    • Araki, Akiko;
    • Omi, Kazuo;
    • Nakamura, Masaya;
    • James Okano, Hirotaka;
    • Okano, Hideyuki;
    • Ando, Takayuki;
    • Takeshima, Hideyuki;
    • Ushijima, Toshikazu
    Publication type:
    Journal Article
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    Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 882, doi. 10.1093/brain/awt013
    By:
    • Gerards, Mike;
    • Kamps, Rick;
    • van Oevelen, Jo;
    • Boesten, Iris;
    • Jongen, Eveline;
    • de Koning, Bart;
    • Scholte, Hans R.;
    • de Angst, Isabel;
    • Schoonderwoerd, Kees;
    • Sefiani, Abdelaziz;
    • Ratbi, Ilham;
    • Coppieters, Wouter;
    • Karim, Latifa;
    • de Coo, René;
    • van den Bosch, Bianca;
    • Smeets, Hubert
    Publication type:
    Article
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    Epigenetic transcriptional activation of monocyte chemotactic protein 3 contributes to long-lasting neuropathic pain.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 828, doi. 10.1093/brain/aws330
    By:
    • Imai, Satoshi;
    • Ikegami, Daigo;
    • Yamashita, Akira;
    • Shimizu, Toshikazu;
    • Narita, Michiko;
    • Niikura, Keiichi;
    • Furuya, Masaharu;
    • Kobayashi, Yasuhisa;
    • Miyashita, Kazuhiko;
    • Okutsu, Daiki;
    • Kato, Akira;
    • Nakamura, Atsushi;
    • Araki, Akiko;
    • Omi, Kazuo;
    • Nakamura, Masaya;
    • James Okano, Hirotaka;
    • Okano, Hideyuki;
    • Ando, Takayuki;
    • Takeshima, Hideyuki;
    • Ushijima, Toshikazu
    Publication type:
    Article
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    From The Archives.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 688, doi. 10.1093/brain/awt050
    By:
    • Compston, Alastair
    Publication type:
    Article
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    Corrigendum.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 985, doi. 10.1093/brain/awr163
    Publication type:
    Article
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    Editorial.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 685, doi. 10.1093/brain/awt039
    By:
    • Compston, Alastair
    Publication type:
    Article
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    Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 905
    By:
    • Reetz, Kathrin;
    • Costa, Ana S.;
    • Mirzazade, Shahram;
    • Lehmann, Anna;
    • Juzek, Agnes;
    • Rakowicz, Maria;
    • Boguslawska, Romana;
    • Schöls, Ludger;
    • Linnemann, Christoph;
    • Mariotti, Caterina;
    • Grisoli, Marina;
    • Dürr, Alexandra;
    • van de Warrenburg, Bart P.;
    • Timmann, Dagmar;
    • Pandolfo, Massimo;
    • Bauer, Peter;
    • Jacobi, Heike;
    • Hauser, Till-Karsten;
    • Klockgether, Thomas;
    • Schulz, Jörg B.
    Publication type:
    Article
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    MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 872, doi. 10.1093/brain/awt012
    By:
    • Martinelli, Diego;
    • Travaglini, Lorena;
    • Drouin, Christian A.;
    • Ceballos-Picot, Irene;
    • Rizza, Teresa;
    • Bertini, Enrico;
    • Carrozzo, Rosalba;
    • Petrini, Stefania;
    • de Lonlay, Pascale;
    • El Hachem, Maya;
    • Hubert, Laurence;
    • Montpetit, Alexandre;
    • Torre, Giuliano;
    • Dionisi-Vici, Carlo
    Publication type:
    Article
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    Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 957
    By:
    • Hernández-Hernández, Oscar;
    • Guiraud-Dogan, Céline;
    • Sicot, Géraldine;
    • Huguet, Aline;
    • Luilier, Sabrina;
    • Steidl, Esther;
    • Saenger, Stefanie;
    • Marciniak, Elodie;
    • Obriot, Hélène;
    • Chevarin, Caroline;
    • Nicole, Annie;
    • Revillod, Lucile;
    • Charizanis, Konstantinos;
    • Lee, Kuang-Yung;
    • Suzuki, Yasuhiro;
    • Kimura, Takashi;
    • Matsuura, Tohru;
    • Cisneros, Bulmaro;
    • Swanson, Maurice S.;
    • Trovero, Fabrice
    Publication type:
    Article
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    Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 944
    By:
    • Cossins, Judith;
    • Belaya, Katsiaryna;
    • Hicks, Debbie;
    • Salih, Mustafa A.;
    • Finlayson, Sarah;
    • Carboni, Nicola;
    • Liu, Wei Wei;
    • Maxwell, Susan;
    • Zoltowska, Katarzyna;
    • Farsani, Golara Torabi;
    • Laval, Steven;
    • Seidhamed, Mohammed Zain;
    • Donnelly, Peter;
    • Bentley, David;
    • McGowan, Simon J.;
    • Müller, Juliane;
    • Palace, Jacqueline;
    • Lochmüller, Hanns;
    • Beeson, David
    Publication type:
    Article
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