Works matching IS 00068950 AND DT 2015 AND VI 138 AND IP 8


Results: 37
    1

    Corrigendum.

    Published in:
    2015
    Publication type:
    corrected article
    2

    Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

    Published in:
    2015
    By:
    • Bannwarth, Sylvie;
    • Ait-El-Mkadem, Samira;
    • Chaussenot, Annabelle;
    • Genin, Emmanuelle C.;
    • Lacas-Gervais, Sandra;
    • Fragaki, Konstantina;
    • Berg-Alonso, Laetitia;
    • Kageyama, Yusuke;
    • Serre, Valérie;
    • Moore, David;
    • Verschueren, Annie;
    • Rouzier, Cécile;
    • le Le Ber, Isabel;
    • Augé, Gaëlle;
    • Cochaud, Charlotte;
    • Lespinasse, Francoise;
    • N'Guyen, Karine;
    • de Septenville, Anne;
    • Brice, Alexis;
    • Yu-Wai-Man, Patrick
    Publication type:
    journal article
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    Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

    Published in:
    2015
    By:
    • Verdura, Edgard;
    • Hervé, Dominique;
    • Scharrer, Eva;
    • del Mar Amador, Maria;
    • Guyant-Maréchal, Lucie;
    • Philippi, Anne;
    • Corlobé, Astrid;
    • Bergametti, Francoise;
    • Gazal, Steven;
    • Prieto-Morin, Carol;
    • Beaufort, Nathalie;
    • Le Bail, Benoit;
    • Viakhireva, Irina;
    • Dichgans, Martin;
    • Chabriat, Hugues;
    • Haffner, Christof;
    • Tournier-Lasserve, Elisabeth;
    • Amador, Maria Del Mar;
    • Bergametti, Françoise
    Publication type:
    journal article
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    Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

    Published in:
    2015
    By:
    • Jinks, Robert N.;
    • Puffenberger, Erik G.;
    • Baple, Emma;
    • Harding, Brian;
    • Crino, Peter;
    • Fogo, Agnes B.;
    • Wenger, Olivia;
    • Baozhong Xin;
    • Koehler, Alanna E.;
    • McGlincy, Madeleine H.;
    • Provencher, Margaret M.;
    • Smith, Jeffrey D.;
    • Tran, Linh;
    • Turki, Saeed Al;
    • Chioza, Barry A.;
    • Cross, Harold;
    • Harlalka, Gaurav V.;
    • Hurles, Matthew E.;
    • Maroofan, Reza;
    • Heaps, Adam D.
    Publication type:
    journal article
    29

    Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

    Published in:
    2015
    By:
    • Brozkova, Dana Safka;
    • Deconinck, Tine;
    • Griffin, Laurie Beth;
    • Ferbert, Andreas;
    • Haberlova, Jana;
    • Mazanec, Radim;
    • Lassuthova, Petra;
    • Roth, Christian;
    • Pilunthanakul, Thanita;
    • Rautenstrauss, Bernd;
    • Janecke, Andreas R.;
    • Zavadakova, Petra;
    • Chrast, Roman;
    • Rivolta, Carlo;
    • Zuchner, Stephan;
    • Antonellis, Anthony;
    • Beg, Asim A.;
    • De Jonghe, Peter;
    • Senderek, Jan;
    • Seeman, Pavel
    Publication type:
    journal article
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