Works matching DE "MUSCULAR dystrophy diagnosis"

Results: 116
    1

    RNAseq analysis for the diagnosis of muscular dystrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2016, v. 3, n. 1, p. 55, doi. 10.1002/acn3.267
    By:
    • Gonorazky, Hernan;
    • Liang, Minggao;
    • Cummings, Beryl;
    • Lek, Monkol;
    • Micallef, Johann;
    • Hawkins, Cynthia;
    • Basran, Raveen;
    • Cohn, Ronald;
    • Wilson, Michael D.;
    • MacArthur, Daniel;
    • Marshall, Christian R.;
    • Ray, Peter N.;
    • Dowling, James J.
    Publication type:
    Article
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    Needle muscle biopsy and its application.

    Published in:
    Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 6, p. 432, doi. 10.3969/j.issn.1672-6731.2015.06.003
    By:
    • CHEN Meng-long;
    • ZHANG Cheng
    Publication type:
    Article
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    Calpain-3 mutations in Turkey.

    Published in:
    2006
    By:
    • Balci, Burcu;
    • Aurino, Stefania;
    • Haliloglu, Göknur;
    • Talim, Beril;
    • Erdem, Sevim;
    • Akcören, Zuhal;
    • Tan, Ersin;
    • Caglar, Melda;
    • Richard, Isabelle;
    • Nigro, Vincenzo;
    • Topaloglu, Haluk;
    • Dincer, Pervin;
    • Haliloglu, Göknur;
    • Akcören, Zuhal
    Publication type:
    journal article
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    Partial Merosin Deficiency and Precocious Puberty.

    Published in:
    European Journal of General Medicine, 2015, v. 12, n. 1, p. 90, doi. 10.15197/sabad.1.12.18
    By:
    • Eklioglu, Beray Selver;
    • Akyurek, Nesibe;
    • Yuca, Sevil Ari;
    • Atabek, Mehmet Emre
    Publication type:
    Article
    13
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    Scapular Winging in a Child.

    Published in:
    Oman Medical Journal, 2023, v. 38, n. 5, p. 3, doi. 10.5001/omj.2023.112
    By:
    • Al-Rashdi, Juhaina;
    • Al-Hashmi, Sheikhan;
    • Al-Amrani, Fatema
    Publication type:
    Article
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    Poster presentations.

    Published in:
    Developmental Medicine & Child Neurology, 2017, v. 59, p. 39, doi. 10.1111/dmcn.13623
    Publication type:
    Article
    19

    Congenital muscular dystrophy: from muscle to brain.

    Published in:
    Italian Journal of Pediatrics, 2016, v. 42, p. 1, doi. 10.1186/s13052-016-0289-9
    By:
    • Falsaperla, Raffaele;
    • Praticò, Andrea D.;
    • Ruggieri, Martino;
    • Parano, Enrico;
    • Rizzo, Renata;
    • Corsello, Giovanni;
    • Vitaliti, Giovanna;
    • Pavone, Piero
    Publication type:
    Article
    20

    Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.

    Published in:
    2022
    By:
    • Hiramuki, Yosuke;
    • Kure, Yuriko;
    • Saito, Yoshihiko;
    • Ogawa, Megumu;
    • Ishikawa, Keiko;
    • Mori-Yoshimura, Madoka;
    • Oya, Yasushi;
    • Takahashi, Yuji;
    • Kim, Dae-Seong;
    • Arai, Noriko;
    • Mori, Chiaki;
    • Matsumura, Tsuyoshi;
    • Hamano, Tadanori;
    • Nakamura, Kenichiro;
    • Ikezoe, Koji;
    • Hayashi, Shinichiro;
    • Goto, Yuichi;
    • Noguchi, Satoru;
    • Nishino, Ichizo
    Publication type:
    journal article
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    Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

    Published in:
    2022
    By:
    • Alonso-Pérez, Jorge;
    • González-Quereda, Lidia;
    • Bruno, Claudio;
    • Panicucci, Chiara;
    • Alavi, Afagh;
    • Nafissi, Shahriar;
    • Nilipour, Yalda;
    • Zanoteli, Edmar;
    • Isihi, Lucas Michielon de Augusto;
    • Melegh, Béla;
    • Hadzsiev, Kinga;
    • Muelas, Nuria;
    • Vílchez, Juan J;
    • Dourado, Mario Emilio;
    • Kadem, Naz;
    • Kutluk, Gultekin;
    • Umair, Muhammad;
    • Younus, Muhammad;
    • Pegorano, Elena;
    • Bello, Luca
    Publication type:
    journal article
    35

    New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

    Published in:
    2020
    By:
    • Alonso-Pérez, Jorge;
    • González-Quereda, Lidia;
    • Bello, Luca;
    • Guglieri, Michela;
    • Straub, Volker;
    • Gallano, Pia;
    • Semplicini, Claudio;
    • Pegoraro, Elena;
    • Zangaro, Vittoria;
    • Nascimento, Andrés;
    • Ortez, Carlos;
    • Comi, Giacomo Pietro;
    • Dam, Leroy ten;
    • Visser, Marianne De;
    • Kooi, A J van der;
    • Garrido, Cristina;
    • Santos, Manuela;
    • Schara, Ulrike;
    • Gangfuß, Andrea;
    • Løkken, Nicoline
    Publication type:
    journal article
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    Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.

    Published in:
    2021
    By:
    • Jacobs, Marni B.;
    • James, Meredoith K.;
    • Lowes, Linda P.;
    • Alfano, Lindsay N.;
    • Eagle, Michelle;
    • Muni Lofra, Robert;
    • Moore, Ursula;
    • Feng, Jia;
    • Rufibach, Laura E.;
    • Rose, Kristy;
    • Duong, Tina;
    • Bello, Luca;
    • Pedrosa‐Hernández, Irene;
    • Holsten, Scott;
    • Sakamoto, Chikako;
    • Canal, Aurélie;
    • Sanchez‐Aguilera Práxedes, Nieves;
    • Thiele, Simone;
    • Siener, Catherine;
    • Vandevelde, Bruno
    Publication type:
    journal article
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    Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

    Published in:
    2016
    By:
    • O'Grady, Gina L.;
    • Lek, Monkol;
    • Lamande, Shireen R.;
    • Waddell, Leigh;
    • Oates, Emily C.;
    • Punetha, Jaya;
    • Ghaoui, Roula;
    • Sandaradura, Sarah A.;
    • Best, Heather;
    • Kaur, Simranpreet;
    • Davis, Mark;
    • Laing, Nigel G.;
    • Muntoni, Francesco;
    • Hoffman, Eric;
    • MacArthur, Daniel G.;
    • Clarke, Nigel F.;
    • Cooper, Sandra;
    • North, Kathryn
    Publication type:
    journal article
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