Works matching IS 03645134 AND DT 2019 AND VI 86 AND IP 2

Results: 23
    1

    Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.

    Published in:
    2019
    By:
    • Ng, Yi Shiau;
    • Martikainen, Mika H.;
    • Gorman, Gráinne S.;
    • Blain, Alasdair;
    • Bugiardini, Enrico;
    • Bunting, Apphia;
    • Schaefer, Andrew M.;
    • Alston, Charlotte L.;
    • Blakely, Emma L.;
    • Sharma, Sunil;
    • Hughes, Imelda;
    • Lim, Albert;
    • de Goede, Christian;
    • McEntagart, Meriel;
    • Spinty, Stefan;
    • Horrocks, Iain;
    • Roberts, Mark;
    • Woodward, Cathy E.;
    • Chinnery, Patrick F.;
    • Horvath, Rita
    Publication type:
    journal article
    2
    3

    PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

    Published in:
    2019
    By:
    • Chelban, Viorica;
    • Wilson, Matthew P.;
    • Warman Chardon, Jodi;
    • Vandrovcova, Jana;
    • Zanetti, M. Natalia;
    • Zamba‐Papanicolaou, Eleni;
    • Efthymiou, Stephanie;
    • Pope, Simon;
    • Conte, Maria R.;
    • Abis, Giancarlo;
    • Liu, Yo‐Tsen;
    • Tribollet, Eloise;
    • Haridy, Nourelhoda A.;
    • Botía, Juan A.;
    • Ryten, Mina;
    • Nicolaou, Paschalis;
    • Minaidou, Anna;
    • Christodoulou, Kyproula;
    • Kernohan, Kristin D.;
    • Eaton, Alison
    Publication type:
    journal article
    4
    5

    Issue Information.

    Published in:
    Annals of Neurology, 2019, v. 86, n. 2, p. i, doi. 10.1002/ana.25569
    Publication type:
    Article
    6

    Issue Information.

    Published in:
    Annals of Neurology, 2019, v. 86, n. 2, p. i, doi. 10.1002/ana.25420
    Publication type:
    Article
    7
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    A metabolic profile of polyamines in parkinson disease: A promising biomarker.

    Published in:
    2019
    By:
    • Saiki, Shinji;
    • Sasazawa, Yukiko;
    • Fujimaki, Motoki;
    • Kamagata, Koji;
    • Kaga, Naoko;
    • Taka, Hikari;
    • Li, Yuanzhe;
    • Souma, Sanae;
    • Hatano, Taku;
    • Imamichi, Yoko;
    • Furuya, Norihiko;
    • Mori, Akio;
    • Oji, Yutaka;
    • Ueno, Shin‐Ichi;
    • Nojiri, Shuko;
    • Miura, Yoshiki;
    • Ueno, Takashi;
    • Funayama, Manabu;
    • Aoki, Shigeki;
    • Hattori, Nobutaka
    Publication type:
    journal article
    12
    13

    Autism and developmental disability caused by KCNQ3 gain-of-function variants.

    Published in:
    2019
    By:
    • Sands, Tristan T.;
    • Miceli, Francesco;
    • Lesca, Gaetan;
    • Beck, Anita E.;
    • Sadleir, Lynette G.;
    • Arrington, Daniel K.;
    • Schönewolf‐Greulich, Bitten;
    • Moutton, Sébastien;
    • Lauritano, Anna;
    • Nappi, Piera;
    • Soldovieri, Maria Virginia;
    • Scheffer, Ingrid E.;
    • Mefford, Heather C.;
    • Stong, Nicholas;
    • Heinzen, Erin L.;
    • Goldstein, David B.;
    • Perez, Ana Grijalvo;
    • Kossoff, Eric H.;
    • Stocco, Amber;
    • Sullivan, Jennifer A.
    Publication type:
    journal article
    14

    Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study.

    Published in:
    2019
    By:
    • Querin, Giorgia;
    • Bede, Peter;
    • El Mendili, Mohamed Mounir;
    • Li, Menghan;
    • Pélégrini‐Issac, Mélanie;
    • Rinaldi, Daisy;
    • Catala, Martin;
    • Saracino, Dario;
    • Salachas, François;
    • Camuzat, Agnes;
    • Marchand‐Pauvert, Véronique;
    • Cohen‐Adad, Julien;
    • Colliot, Olivier;
    • Le Ber, Isabelle;
    • Pradat, Pierre‐François;
    • Pélégrini-Issac, Mélanie;
    • Marchand-Pauvert, Véronique;
    • Cohen-Adad, Julien;
    • Pradat, Pierre-François;
    • Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Study Group
    Publication type:
    journal article
    15
    16

    COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

    Published in:
    2019
    By:
    • Inoue, Michio;
    • Uchino, Shumpei;
    • Iida, Aritoshi;
    • Noguchi, Satoru;
    • Hayashi, Shinichiro;
    • Takahashi, Tsutomu;
    • Fujii, Katsunori;
    • Komaki, Hirofumi;
    • Takeshita, Eri;
    • Nonaka, Ikuya;
    • Okada, Yukinori;
    • Yoshizawa, Takuya;
    • Van Lommel, Leentje;
    • Schuit, Frans;
    • Goto, Yu‐ichi;
    • Mimaki, Masakazu;
    • Nishino, Ichizo;
    • Goto, Yu-Ichi
    Publication type:
    journal article
    17

    Using global team science to identify genetic parkinson's disease worldwide.

    Published in:
    2019
    By:
    • Vollstedt, Eva‐Juliane;
    • Kasten, Meike;
    • Klein, Christine;
    • Aasly, Jan;
    • Adler, Charles;
    • Ahmad‐Annuar, Azlina;
    • Albanese, Alberto;
    • Alcalay, Roy N.;
    • Al‐Mubarak, Bashayer;
    • Alvarez, Victoria;
    • Andree‐Muñoz, Brennie;
    • Annesi, Grazia;
    • Appel‐Cresswell, Silke;
    • Arkadir, David;
    • Armasu, Sebastian;
    • Barber, Thomas R.;
    • Bardien, Soraya;
    • Barkhuizen, Melinda;
    • Barrett, Matthew J.;
    • Başak, A. Nazlı
    Publication type:
    Editorial
    18
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    Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.

    Published in:
    2019
    By:
    • Domínguez‐González, Cristina;
    • Madruga‐Garrido, Marcos;
    • Mavillard, Fabiola;
    • Garone, Caterina;
    • Aguirre‐Rodríguez, Francisco Javier;
    • Donati, M. Alice;
    • Kleinsteuber, Karin;
    • Martí, Itxaso;
    • Martín‐Hernández, Elena;
    • Morealejo‐Aycinena, Juan P.;
    • Munell, Francina;
    • Nascimento, Andrés;
    • Kalko, Susana G.;
    • Sardina, M. Dolores;
    • Álvarez del Vayo, Concepcion;
    • Serrano, Olga;
    • Long, Yuelin;
    • Tu, Yuqi;
    • Levin, Bruce;
    • Thompson, John L. P.
    Publication type:
    journal article
    21

    Induction of brain-infiltrating T-bet-expressing B cells in multiple sclerosis.

    Published in:
    2019
    By:
    • van Langelaar, Jamie;
    • Rijvers, Liza;
    • Janssen, Malou;
    • Wierenga‐Wolf, Annet F.;
    • Melief, Marie‐José;
    • Siepman, Theodora A.;
    • de Vries, Helga E.;
    • Unger, Peter‐Paul A.;
    • van Ham, S. Marieke;
    • Hintzen, Rogier Q.;
    • van Luijn, Marvin M.;
    • Wierenga-Wolf, Annet F;
    • Melief, Marie-José;
    • Unger, Peter-Paul A
    Publication type:
    journal article
    22
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