Works matching IS 00068950 AND DT 2021 AND VI 144 AND IP 2


Results: 39
    1
    2
    3
    4
    5
    6

    Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

    Published in:
    2021
    By:
    • Deschauer, Marcus;
    • Hengel, Holger;
    • Rupprich, Katrin;
    • Kreiß, Martina;
    • Schlotter-Weigel, Beate;
    • Grimmel, Mona;
    • Admard, Jakob;
    • Schneider, Ilka;
    • Alhaddad, Bader;
    • Gazou, Anastasia;
    • Sturm, Marc;
    • Vorgerd, Matthias;
    • Balousha, Ghassan;
    • Balousha, Osama;
    • Falna, Mohammed;
    • Kirschke, Jan S;
    • Kornblum, Cornelia;
    • Jordan, Berit;
    • Kraya, Torsten;
    • Strom, Tim M
    Publication type:
    journal article
    7
    8
    9
    10
    11
    12
    13
    14
    15
    16
    17
    18
    19
    20
    21

    An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

    Published in:
    2021
    By:
    • Pagnamenta, Alistair T;
    • Kaiyrzhanov, Rauan;
    • Zou, Yaqun;
    • Da'as, Sahar I;
    • Maroofian, Reza;
    • Donkervoort, Sandra;
    • Dominik, Natalia;
    • Lauffer, Marlen;
    • Ferla, Matteo P;
    • Orioli, Andrea;
    • Giess, Adam;
    • Tucci, Arianna;
    • Beetz, Christian;
    • Sedghi, Maryam;
    • Ansari, Behnaz;
    • Barresi, Rita;
    • Basiri, Keivan;
    • Cortese, Andrea;
    • Elgar, Greg;
    • Fernandez-Garcia, Miguel A
    Publication type:
    journal article
    22
    23

    De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.

    Published in:
    2021
    By:
    • Riedhammer, Korbinian M;
    • Stockler, Sylvia;
    • Ploski, Rafal;
    • Wenzel, Maren;
    • Adis-Dutschmann, Burkhard;
    • Ahting, Uwe;
    • Alhaddad, Bader;
    • Blaschek, Astrid;
    • Haack, Tobias B;
    • Kopajtich, Robert;
    • Lee, Jessica;
    • Pienkowski, Victor Murcia;
    • Pollak, Agnieszka;
    • Szymanska, Krystyna;
    • Tarailo-Graovac, Maja;
    • van der Lee, Robin;
    • Karnebeek, Clara D van;
    • Meitinger, Thomas;
    • Krägeloh-Mann, Ingeborg;
    • Vill, Katharina
    Publication type:
    journal article
    24
    25
    26
    27

    Early-onset phenotype of bi-allelic GRN mutations.

    Published in:
    2021
    By:
    • Neuray, Caroline;
    • Sultan, Tipu;
    • Alvi, Javeira Raza;
    • Franca, Marcondes C;
    • Assmann, Birgit;
    • Wagner, Matias;
    • Canafoglia, Laura;
    • Franceschetti, Silvana;
    • Rossi, Giacomina;
    • Santana, Isabel;
    • Macario, Maria C;
    • Almeida, Maria R;
    • Kamate, Mahesh;
    • Parikh, Sumit;
    • Elloumi, Houda Zghal;
    • Murphy, David;
    • Efthymiou, Stephanie;
    • Maroofian, Reza;
    • Houlden, Henry
    Publication type:
    Letter
    28
    29
    30
    31
    32
    33
    34
    35
    36
    39