Below are the most recent publications written about "Muscular Dystrophies, Limb-Girdle" by people in Profiles.
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T?pf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casas?s AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG, Straub V. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med. 2020 09; 22(9):1478-1488.
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Iyer S, Suresh S, Guo D, Daman K, Chen JCJ, Liu P, Zieger M, Luk K, Roscoe BP, Mueller C, King OD, Emerson CP, Wolfe SA. Precise therapeutic gene correction by a simple nuclease-induced double-stranded break. Nature. 2019 04; 568(7753):561-565.
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Dominov JA, Uyan ?, McKenna-Yasek D, Nallamilli BRR, Kergourlay V, Bartoli M, Levy N, Hudson J, Evangelista T, Lochmuller H, Krahn M, Rufibach L, Hegde M, Brown RH. Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. Ann Clin Transl Neurol. 2019 Apr; 6(4):642-654.
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Johnson K, Bertoli M, Phillips L, T?pf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Lusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Fern?ndez-Torr?n R, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Xu L, Valkanas E, Mullen TE, Lek M, MacArthur DG, Straub V. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skelet Muscle. 2018 07 30; 8(1):23.
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Johnson K, De Ridder W, T?pf A, Bertoli M, Phillips L, De Jonghe P, Baets J, Deconinck T, Rakocevic Stojanovic V, Peric S, Durmus H, Jamal-Omidi S, Nafissi S, Mongini T, Lusakowska A, Busby M, Miller J, Norwood F, Hudson J, Barresi R, Lek M, MacArthur DG, Straub V. Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population. J Neurol Neurosurg Psychiatry. 2019 04; 90(4):490-493.
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Strang-Karlsson S, Johnson K, T?pf A, Xu L, Lek M, MacArthur DG, Casar-Borota O, Williams M, Straub V, Wallgren-Pettersson C. A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. Neuromuscul Disord. 2018 07; 28(7):614-618.
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?stergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fern?ndez-Torr?n R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J. Limb girdle muscular dystrophy due to mutations in POMT2. J Neurol Neurosurg Psychiatry. 2018 05; 89(5):506-512.
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Johnson K, T?pf A, Bertoli M, Phillips L, Claeys KG, Stojanovic VR, Peric S, Hahn A, Maddison P, Akay E, Bastian AE, Lusakowska A, Kostera-Pruszczyk A, Lek M, Xu L, MacArthur DG, Straub V. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. Orphanet J Rare Dis. 2017 11 17; 12(1):173.
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Vohra R, Accorsi A, Kumar A, Walter G, Girgenrath M. Magnetic Resonance Imaging Is Sensitive to Pathological Amelioration in a Model for Laminin-Deficient Congenital Muscular Dystrophy (MDC1A). PLoS One. 2015; 10(9):e0138254.
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Spinazzola JM, Smith TC, Liu M, Luna EJ, Barton ER. Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle. Hum Mol Genet. 2015 May 01; 24(9):2470-81.