Works matching MERRF syndrome

Results: 92
    1
    2
    3
    4

    Anesthetic management of a patient with MERRF syndrome.

    Published in:
    Pediatric Anesthesia, 2005, v. 15, n. 1, p. 77, doi. 10.1111/j.1460-9592.2005.01384.x
    By:
    • VILELA, HUGO;
    • GARCÌA-FERNÁNDEZ, JAVIER;
    • PARODI, ELBA;
    • REINOSO-BARBERO, FRANCISCO;
    • DURÁN, PILAR;
    • GILSANZ, FERNANDO
    Publication type:
    Article
    5
    6
    7
    8
    9
    10
    11
    12
    13
    14
    15
    16
    17
    18
    19
    20
    21
    22
    23
    24

    Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in Myoclonus Epilepsy and Ragged-Red Fibers (MERRF) syndrome by a multiplex Molecular Beacon based real-time fluorescence PCR.

    Published in:
    Nucleic Acids Research, 2001, v. 29, n. 3, p. e13, doi. 10.1093/nar/29.3.e13
    By:
    • Szuhai, Károly;
    • Ouweland, Jody M. van den;
    • Dirks, Roeland W.;
    • Lemaître, Marc;
    • Truffert, Jean-Christophe;
    • Janssen, George M.;
    • Tanke, Hans J.;
    • Holme, Elisabeth;
    • Maassen, J. Antonie;
    • Raap, Anton K.
    Publication type:
    Article
    25
    26
    27
    28
    29

    Expanded phenotypic spectrum of the m.8344A>G 'MERRF' mutation: data from the German mitoNET registry.

    Published in:
    Journal of Neurology, 2016, v. 263, n. 5, p. 961, doi. 10.1007/s00415-016-8086-3
    By:
    • Altmann, Judith;
    • Büchner, Boriana;
    • Nadaj-Pakleza, Aleksandra;
    • Schäfer, Jochen;
    • Jackson, Sandra;
    • Lehmann, Diana;
    • Deschauer, Marcus;
    • Kopajtich, Robert;
    • Lautenschläger, Ronald;
    • Kuhn, Klaus;
    • Karle, Kathrin;
    • Schöls, Ludger;
    • Schulz, Jörg;
    • Weis, Joachim;
    • Prokisch, Holger;
    • Kornblum, Cornelia;
    • Claeys, Kristl;
    • Klopstock, Thomas
    Publication type:
    Article
    30
    31
    32
    33
    34
    35
    36

    Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.

    Published in:
    Epilepsia (Series 4), 2017, v. 58, n. 3, p. 436, doi. 10.1111/epi.13676
    By:
    • Mulkey, Sarah B.;
    • Ben‐Zeev, Bruria;
    • Nicolai, Joost;
    • Carroll, John L.;
    • Grønborg, Sabine;
    • Jiang, Yong‐hui;
    • Joshi, Nishtha;
    • Kelly, Megan;
    • Koolen, David. A.;
    • Mikati, Mohamad A.;
    • Park, Kristen;
    • Pearl, Phillip L.;
    • Scheffer, Ingrid E.;
    • Spillmann, Rebecca C.;
    • Taglialatela, Maurizio;
    • Vieker, Silvia;
    • Weckhuysen, Sarah;
    • Cooper, Edward C.;
    • Cilio, Maria Roberta
    Publication type:
    Article
    37
    38
    39
    40
    41
    42
    43
    44
    45
    46
    47

    'Myo-cardiomyopathy' is commonly associated with the A8344G 'MERRF' mutation.

    Published in:
    Journal of Neurology, 2015, v. 262, n. 3, p. 701, doi. 10.1007/s00415-014-7632-0
    By:
    • Catteruccia, Michela;
    • Sauchelli, Donato;
    • Della Marca, Giacomo;
    • Primiano, Guido;
    • Cuccagna, Cristina;
    • Bernardo, Daniela;
    • Leo, Milena;
    • Camporeale, Antonella;
    • Sanna, Tommaso;
    • Cianfoni, Alessandro;
    • Servidei, Serenella
    Publication type:
    Article
    48
    49
    50