Works matching DE "LIMB-girdle muscular dystrophy"

Results: 283
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    Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan.

    Published in:
    Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2236
    By:
    • Bardakov, Sergey N.;
    • Deev, Roman V.;
    • Isaev, Аrtur А.;
    • Khromov‐Borisov, Nikita N.;
    • Kopylov, Evgeniy D.;
    • Savchuk, Мaria R.;
    • Pushkin, Maxim S.;
    • Presnyakov, Evgeniy V.;
    • Magomedova, Raisat M.;
    • Achmedova, Patimat G.;
    • Umakhanova, Zoya R.;
    • Kaimonov, Vladimir S.;
    • Musatova, Elizaveta V.;
    • Blagodatskikh, Konstantin А.;
    • Tveleneva, Aleksandra А.;
    • Sofronova, Yana V.;
    • Yakovlev, Ivan A.
    Publication type:
    Article
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    Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41487-6
    By:
    • Sanga, Shamita;
    • Chakraborty, Sudipta;
    • Bardhan, Mainak;
    • Polavarapu, Kiran;
    • Kumar, Veeramani Preethish;
    • Bhattacharya, Chandrika;
    • Nashi, Saraswati;
    • Vengalil, Seena;
    • Geetha, Thenral S.;
    • Ramprasad, Vedam;
    • Nalini, Atchayaram;
    • Basu, Analabha;
    • Acharya, Moulinath
    Publication type:
    Article
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    Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41487-6
    By:
    • Sanga, Shamita;
    • Chakraborty, Sudipta;
    • Bardhan, Mainak;
    • Polavarapu, Kiran;
    • Kumar, Veeramani Preethish;
    • Bhattacharya, Chandrika;
    • Nashi, Saraswati;
    • Vengalil, Seena;
    • Geetha, Thenral S.;
    • Ramprasad, Vedam;
    • Nalini, Atchayaram;
    • Basu, Analabha;
    • Acharya, Moulinath
    Publication type:
    Article
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    Differential diagnosis of vacuolar myopathies in the NGS era.

    Published in:
    Brain Pathology, 2020, v. 30, n. 5, p. 877, doi. 10.1111/bpa.12864
    By:
    • Mair, Dorothea;
    • Biskup, Saskia;
    • Kress, Wolfram;
    • Abicht, Angela;
    • Brück, Wolfgang;
    • Zechel, Sabrina;
    • Knop, Karl Christian;
    • Koenig, Fatima Barbara;
    • Tey, Shelisa;
    • Nikolin, Stefan;
    • Eggermann, Katja;
    • Kurth, Ingo;
    • Ferbert, Andreas;
    • Weis, Joachim
    Publication type:
    Article
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    Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.

    Published in:
    Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00608
    By:
    • Kiselev, Artem;
    • Vaz, Raquel;
    • Knyazeva, Anastasia;
    • Sergushichev, Alexey;
    • Dmitrieva, Renata;
    • Khudiakov, Aleksandr;
    • Jorholt, John;
    • Smolina, Natalia;
    • Sukhareva, Ksenia;
    • Fomicheva, Yulia;
    • Mikhaylov, Evgeny;
    • Mitrofanova, Lubov;
    • Predeus, Alexander;
    • Sjoberg, Gunnar;
    • Rudenko, Dmitriy;
    • Sejersen, Thomas;
    • Lindstrand, Anna;
    • Kostareva, Anna
    Publication type:
    Article
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    Phenotype variabilities of laminopathies.

    Published in:
    European Journal of Translational Myology, 2023, v. 33, n. 2, p. 37, doi. 10.4081/ejtm.2023.11427
    By:
    • Siciliano, Gabriele;
    • Vadi, Gabriele;
    • Torri, Francesca;
    • Rende, Mariaconcetta;
    • Lattanzi, Giovanna;
    • Ricci, Giulia
    Publication type:
    Article
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    Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests.

    Published in:
    Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.634766
    By:
    • Nuñez-Peralta, Claudia;
    • Montesinos, Paula;
    • Alonso-Jiménez, Alicia;
    • Alonso-Pérez, Jorge;
    • Reyes-Leiva, David;
    • Sánchez-González, Javier;
    • Llauger-Roselló, Jaume;
    • Segovia, Sonia;
    • Belmonte, Izaskun;
    • Pedrosa, Irene;
    • Martínez-Noguera, Antonio;
    • Matellini-Mosca, Briano;
    • Walter, Glenn;
    • Díaz-Manera, Jordi
    Publication type:
    Article
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