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Material Type: Artigo
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Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy‐dystroglycanopathyDai, Yi ; Liang, Shengran ; Dong, Xue ; Zhao, Yanhuan ; Ren, Haitao ; Guan, Yuzhou ; Yin, Haifang ; Li, Chen ; Chen, Lin ; Cui, Liying ; Banerjee, SantasreeJournal of cellular and molecular medicine, 2019-02, Vol.23 (2), p.811-818 [Periódico revisado por pares]England: John Wiley and Sons IncTexto completo disponível |
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Material Type: Artigo
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Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencingYu, Meng ; Zheng, Yiming ; Jin, Suqin ; Gang, Qiang ; Wang, Qingqing ; Yu, Peng ; Lv, He ; Zhang, Wei ; Yuan, Yun ; Wang, Zhaoxia Ling, FengPloS one, 2017-04, Vol.12 (4), p.e0175343-e0175343 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Water T2 could predict functional decline in patients with dysferlinopathyMoore, Ursula ; Caldas de Almeida Araújo, Ericky ; Reyngoudt, Harmen ; Gordish‐Dressman, Heather ; Smith, Fiona E. ; Wilson, Ian ; James, Meredith ; Mayhew, Anna ; Rufibach, Laura ; Day, John W. ; Jones, Kristi J. ; Bharucha‐Goebel, Diana X. ; Salort‐Campana, Emmanuelle ; Pestronk, Alan ; Walter, Maggie C. ; Paradas, Carmen ; Stojkovic, Tanya ; Mori‐Yoshimura, Madoka ; Bravver, Elena ; Pegoraro, Elena ; Mendell, Jerry R. ; Bushby, Kate ; Blamire, Andrew M. ; Straub, Volker ; Carlier, Pierre G. ; Diaz‐Manera, JordiJournal of cachexia, sarcopenia and muscle, 2022-12, Vol.13 (6), p.2888-2897 [Periódico revisado por pares]Germany: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2BSpadafora, Patrizia ; Qualtieri, Antonio ; Cavalcanti, Francesca ; Di Palma, Gemma ; Gallo, Olivier ; De Benedittis, Selene ; Cerantonio, Annamaria ; Citrigno, LuigiInternational journal of molecular sciences, 2022-08, Vol.23 (16), p.8932 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy ControlsMagri, Francesca ; Napoli, Laura ; Ripolone, Michela ; Ciscato, Patrizia ; Moggio, Maurizio ; Corti, Stefania ; Comi, Giacomo Pietro ; Sciacco, Monica ; Zanotti, SimonaInternational journal of molecular sciences, 2023-12, Vol.24 (24), p.17402 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal studyWillis, Tracey A ; Hollingsworth, Kieren G ; Coombs, Anna ; Sveen, Marie-Louise ; Andersen, Søren ; Stojkovic, Tanya ; Eagle, Michelle ; Mayhew, Anna ; de Sousa, Paulo L ; Dewar, Liz ; Morrow, Jasper M ; Sinclair, Christopher D J ; Thornton, John S ; Bushby, Kate ; Lochmüller, Hanns ; Hanna, Michael G ; Hogrel, Jean-Yves ; Carlier, Pierre G ; Vissing, John ; Straub, Volker Cohn, RonaldPloS one, 2013-08, Vol.8 (8), p.e70993-e70993 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophyMohassel, Payam ; Landon-Cardinal, Océane ; Foley, A Reghan ; Donkervoort, Sandra ; Pak, Katherine S ; Wahl, Colleen ; Shebert, Robert T ; Harper, Amy ; Fequiere, Pierre ; Meriggioli, Matthew ; Toro, Camilo ; Drachman, Daniel ; Allenbach, Yves ; Benveniste, Olivier ; Béhin, Anthony ; Eymard, Bruno ; Lafôret, Pascal ; Stojkovic, Tanya ; Mammen, Andrew L ; Bönnemann, Carsten GNeurology : neuroimmunology & neuroinflammation, 2019-01, Vol.6 (1), p.e523-e523 [Periódico revisado por pares]United States: American Academy of NeurologyTexto completo disponível |
8 |
Material Type: Artigo
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Cardiac Intervention Improves Heart Disease and Clinical Outcomes in Patients With Muscular Dystrophy in a Multidisciplinary Care SettingNikhanj, Anish ; Yogasundaram, Haran ; Miskew Nichols, Bailey ; Richman-Eisenstat, Janice ; Phan, Cecile ; Bakal, Jeffrey A ; Siddiqi, Zaeem A ; Oudit, Gavin YJournal of the American Heart Association, 2020-01, Vol.9 (2), p.e014004-e014004 [Periódico revisado por pares]England: John Wiley and Sons IncTexto completo disponível |
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Material Type: Artigo
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Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD studyDoody, Amy ; Alfano, Lindsay ; Diaz-Manera, Jordi ; Lowes, Linda ; Mozaffar, Tahseen ; Mathews, Katherine D ; Weihl, Conrad C ; Wicklund, Matthew ; Hung, Man ; Statland, Jeffrey ; Johnson, Nicholas EBMC neurology, 2024-03, Vol.24 (1), p.96-96, Article 96 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype-phenotype correlationGuan, Yuqing ; Liang, Xiongda ; Li, Wei ; Lin, Wanying ; Liang, Guanxia ; Xie, Hongting ; Hou, Yu ; Hu, Yafang ; Shang, XuanSkeletal muscle, 2023-05, Vol.13 (1), p.10-10, Article 10 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |