Below are the most recent publications written about "Muscular Dystrophies" by people in Profiles.
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Fontelonga T, Hall AJ, Brown JL, Jung YL, Alexander MS, Dominov JA, Mouly V, Vieira N, Zatz M, Vainzof M, Gussoni E. Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin. Adv Biol (Weinh). 2023 12; 7(12):e2300157.
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Tupler R. Genotype-phenotype correlation: The ultimate challenge in facioscapolohumeral muscular dystrophy. Eur J Paediatr Neurol. 2018 09; 22(5):737.
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Willmann R, Gordish-Dressman H, Meinen S, R?egg MA, Yu Q, Nagaraju K, Kumar A, Girgenrath M, Coffey CBM, Cruz V, Van Ry PM, Bogdanik L, Lutz C, Rutkowski A, Burkin DJ. Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-a2 Related Congenital Muscular Dystrophy. J Neuromuscul Dis. 2017; 4(2):115-126.
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Chrzanowski SM, Vohra RS, Lee-McMullen BA, Batra A, Spradlin RA, Morales J, Forbes S, Vandenborne K, Barton ER, Walter GA. Contrast-Enhanced Near-Infrared Optical Imaging Detects Exacerbation and Amelioration of Murine Muscular Dystrophy. Mol Imaging. 2017 Jan-Dec; 16:1536012117732439.
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Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sampaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evil? A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V. The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. Neurology. 2016 07 05; 87(1):71-6.
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Andreeva TV, Tyazhelova TV, Rykalina VN, Gusev FE, Goltsov AY, Zolotareva OI, Aliseichik MP, Borodina TA, Grigorenko AP, Reshetov DA, Ginter EK, Amelina SS, Zinchenko RA, Rogaev EI. Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies. Sci Rep. 2016 05 24; 6:26440.
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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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Yamauchi J, Kumar A, Duarte L, Mehuron T, Girgenrath M. Triggering regeneration and tackling apoptosis: a combinatorial approach to treating congenital muscular dystrophy type 1 A. Hum Mol Genet. 2013 Nov 01; 22(21):4306-17.
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Rutkowski A, B?nnemann C, Brown S, Thorsteinsd?ttir S, Dominov J, Ruegg MA, Matter ML, Guttridge D, Crosbie-Watson RH, Kardon G, Nagaraju K, Girgenrath M, Burkin DJ. Report on the Myomatrix Conference April 22-24, 2012, University of Nevada, Reno, Nevada, USA. Neuromuscul Disord. 2013 Feb; 23(2):188-91.
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Wallace LM, Garwick-Coppens SE, Tupler R, Harper SQ. RNA interference improves myopathic phenotypes in mice over-expressing FSHD region gene 1 (FRG1). Mol Ther. 2011 Nov; 19(11):2048-54.