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Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing
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Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing

Yu, Meng ; Zheng, Yiming ; Jin, Suqin ; Gang, Qiang ; Wang, Qingqing ; Yu, Peng ; Lv, He ; Zhang, Wei ; Yuan, Yun ; Wang, Zhaoxia Ling, Feng

PloS one, 2017-04, Vol.12 (4), p.e0175343-e0175343 [Periódico revisado por pares]

United States: Public Library of Science

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2
Water T2 could predict functional decline in patients with dysferlinopathy
Water T2 could predict functional decline in patients with dysferlinopathy
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Water T2 could predict functional decline in patients with dysferlinopathy

Moore, 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, Jordi

Journal of cachexia, sarcopenia and muscle, 2022-12, Vol.13 (6), p.2888-2897 [Periódico revisado por pares]

Germany: John Wiley & Sons, Inc

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3
A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B
A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B
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A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B

Spadafora, Patrizia ; Qualtieri, Antonio ; Cavalcanti, Francesca ; Di Palma, Gemma ; Gallo, Olivier ; De Benedittis, Selene ; Cerantonio, Annamaria ; Citrigno, Luigi

International journal of molecular sciences, 2022-08, Vol.23 (16), p.8932 [Periódico revisado por pares]

Switzerland: MDPI AG

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4
The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls
The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls
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The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls

Magri, Francesca ; Napoli, Laura ; Ripolone, Michela ; Ciscato, Patrizia ; Moggio, Maurizio ; Corti, Stefania ; Comi, Giacomo Pietro ; Sciacco, Monica ; Zanotti, Simona

International journal of molecular sciences, 2023-12, Vol.24 (24), p.17402 [Periódico revisado por pares]

Switzerland: MDPI AG

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5
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study
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Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study

Willis, 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, Ronald

PloS one, 2013-08, Vol.8 (8), p.e70993-e70993 [Periódico revisado por pares]

United States: Public Library of Science

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6
Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy
Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy
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Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy

Mohassel, 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 G

Neurology : neuroimmunology & neuroinflammation, 2019-01, Vol.6 (1), p.e523-e523 [Periódico revisado por pares]

United States: American Academy of Neurology

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7
Cardiac Intervention Improves Heart Disease and Clinical Outcomes in Patients With Muscular Dystrophy in a Multidisciplinary Care Setting
Cardiac Intervention Improves Heart Disease and Clinical Outcomes in Patients With Muscular Dystrophy in a Multidisciplinary Care Setting
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Cardiac Intervention Improves Heart Disease and Clinical Outcomes in Patients With Muscular Dystrophy in a Multidisciplinary Care Setting

Nikhanj, Anish ; Yogasundaram, Haran ; Miskew Nichols, Bailey ; Richman-Eisenstat, Janice ; Phan, Cecile ; Bakal, Jeffrey A ; Siddiqi, Zaeem A ; Oudit, Gavin Y

Journal of the American Heart Association, 2020-01, Vol.9 (2), p.e014004-e014004 [Periódico revisado por pares]

England: John Wiley and Sons Inc

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8
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study
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Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study

Doody, Amy ; Alfano, Lindsay ; Diaz-Manera, Jordi ; Lowes, Linda ; Mozaffar, Tahseen ; Mathews, Katherine D ; Weihl, Conrad C ; Wicklund, Matthew ; Hung, Man ; Statland, Jeffrey ; Johnson, Nicholas E

BMC neurology, 2024-03, Vol.24 (1), p.96-96, Article 96 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype-phenotype correlation
TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype-phenotype correlation
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TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype-phenotype correlation

Guan, Yuqing ; Liang, Xiongda ; Li, Wei ; Lin, Wanying ; Liang, Guanxia ; Xie, Hongting ; Hou, Yu ; Hu, Yafang ; Shang, Xuan

Skeletal muscle, 2023-05, Vol.13 (1), p.10-10, Article 10 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)
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Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)

Aguti, Sara ; Gallus, Gian Nicola ; Bianchi, Silvia ; Salvatore, Simona ; Rubegni, Anna ; Berti, Gianna ; Formichi, Patrizia ; De Stefano, Nicola ; Malandrini, Alessandro ; Lopergolo, Diego

Cells (Basel, Switzerland), 2024-02, Vol.13 (4), p.329 [Periódico revisado por pares]

Switzerland: MDPI AG

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