Works matching DE "CONGENITAL myasthenic syndromes"

Results: 184
    1
    2
    3
    4
    5
    6
    7
    8
    9
    10
    11
    12
    13
    14
    15

    The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.

    Published in:
    Genes, 2020, v. 11, n. 12, p. 1519, doi. 10.3390/genes11121519
    By:
    • Laforgia, Nicola;
    • De Cosmo, Lucrezia;
    • Palumbo, Orazio;
    • Ranieri, Carlotta;
    • Sesta, Michela;
    • Capodiferro, Donatella;
    • Pantaleo, Antonino;
    • Iapicca, Pierluigi;
    • Lastella, Patrizia;
    • Capozza, Manuela;
    • Schettini, Federico;
    • Bukvic, Nenad;
    • Bagnulo, Rosanna;
    • Resta, Nicoletta
    Publication type:
    Article
    16

    Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

    Published in:
    Genes, 2020, v. 11, n. 5, p. 539, doi. 10.3390/genes11050539
    By:
    • Gonzalez-Quereda, Lidia;
    • Rodriguez, Maria Jose;
    • Diaz-Manera, Jordi;
    • Alonso-Perez, Jorge;
    • Gallardo, Eduard;
    • Nascimento, Andres;
    • Ortez, Carlos;
    • Natera-de Benito, Daniel;
    • Olive, Montse;
    • Gonzalez-Mera, Laura;
    • Lopez de Munain, Adolfo;
    • Zulaica, Miren;
    • Poza, Juan Jose;
    • Jerico, Ivonne;
    • Torne, Laura;
    • Riera, Pau;
    • Milisenda, Jose;
    • Sanchez, Aurora;
    • Garrabou, Gloria;
    • Llano, Isabel
    Publication type:
    Article
    17
    18
    19
    20
    21
    22
    23
    24
    25
    26
    27
    28
    29
    30
    31

    Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.

    Published in:
    Neuropathology & Applied Neurobiology, 2024, v. 50, n. 1, p. 1, doi. 10.1111/nan.12952
    By:
    • vanden Brande, Laura;
    • Bauché, Stéphanie;
    • Pérez‐Guàrdia, Laura;
    • Sternberg, Damien;
    • Seferian, Andreea M.;
    • Malfatti, Edoardo;
    • Silva‐Rojas, Roberto;
    • Labasse, Clémence;
    • Chevessier, Frédéric;
    • Carlier, Pierre;
    • Eymard, Bruno;
    • Romero, Norma B.;
    • Laporte, Jocelyn;
    • Servais, Laurent;
    • Gidaro, Teresa;
    • Böhm, Johann
    Publication type:
    Article
    32
    33
    34
    35
    36
    37
    38
    39
    40
    41

    A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia.

    Published in:
    PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053826
    By:
    • Ammar, Asma Ben;
    • Soltanzadeh, Payam;
    • Bauché, Stéphanie;
    • Richard, Pascale;
    • Goillot, Evelyne;
    • Herbst, Ruth;
    • Gaudon, Karen;
    • Huzé, Caroline;
    • Schaeffer, Laurent;
    • Yamanashi, Yuji;
    • Higuchi, Osamu;
    • Taly, Antoine;
    • Koenig, Jeanine;
    • Leroy, Jean-Paul;
    • Hentati, Fayçal;
    • Najmabadi, Hossein;
    • Kahrizi, Kimia;
    • Ilkhani, Manouchehr;
    • Fardeau, Michel;
    • Eymard1, Bruno
    Publication type:
    Article
    42

    Myasthenia in Children.

    Published in:
    Developmental Medicine & Child Neurology, 2020, v. 62, n. 8, p. 999, doi. 10.1111/dmcn.14516
    By:
    • Robinson, Richard
    Publication type:
    Article
    43
    44
    45
    46
    47

    Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.

    Published in:
    Acta Neuropathologica Communications, 2025, v. 13, n. 1, p. 1, doi. 10.1186/s40478-025-01946-9
    By:
    • Della Marina, Adela;
    • Koutsoulidou, Andrie;
    • Natera-de Benito, Daniel;
    • Tykocinski, Lars-Oliver;
    • Tomazou, Marios;
    • Georgiou, Kristia;
    • Laner, Andreas;
    • Kölbel, Heike;
    • Nascimento, Andres;
    • Ortez, Carlos;
    • Abicht, Angela;
    • Thakur, Basant Kumar;
    • Lochmüller, Hanns;
    • Phylactou, Leonidas A.;
    • Ruck, Tobias;
    • Schara-Schmidt, Ulrike;
    • Kale, Dipali;
    • Hentschel, Andreas;
    • Roos, Andreas
    Publication type:
    Article
    48

    New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41008-5
    By:
    • Masingue, Marion;
    • Cattaneo, Olivia;
    • Wolff, Nicolas;
    • Buon, Céline;
    • Sternberg, Damien;
    • Euchparmakian, Morgane;
    • Boex, Myriam;
    • Behin, Anthony;
    • Mamchaouhi, Kamel;
    • Maisonobe, Thierry;
    • Nougues, Marie-Christine;
    • Isapof, Arnaud;
    • Fontaine, Bertrand;
    • Messéant, Julien;
    • Eymard, Bruno;
    • Strochlic, Laure;
    • Bauché, Stéphanie
    Publication type:
    Article
    49

    New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41008-5
    By:
    • Masingue, Marion;
    • Cattaneo, Olivia;
    • Wolff, Nicolas;
    • Buon, Céline;
    • Sternberg, Damien;
    • Euchparmakian, Morgane;
    • Boex, Myriam;
    • Behin, Anthony;
    • Mamchaouhi, Kamel;
    • Maisonobe, Thierry;
    • Nougues, Marie-Christine;
    • Isapof, Arnaud;
    • Fontaine, Bertrand;
    • Messéant, Julien;
    • Eymard, Bruno;
    • Strochlic, Laure;
    • Bauché, Stéphanie
    Publication type:
    Article
    50