Search Results - "Wilding, Brendan R."

Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: A comprehensive review of the clinical, histological and pathological features by Cowling, Belinda S, Cottle, Denny L, Wilding, Brendan R, D’Arcy, Colleen E, Mitchell, Christina A, McGrath, Meagan J

“…Abstract Mutations in the four and a half LIM protein 1 ( FHL 1) gene were recently identified as the cause of four distinct skeletal muscle diseases. Since…”
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SLIMMER (FHL1B/KyoT3) Interacts with the Proapoptotic Protein Siva-1 (CD27BP) and Delays Skeletal Myoblast Apoptosis by Cottle, Denny L., McGrath, Meagan J., Wilding, Brendan R., Cowling, Belinda S., Kane, Jordan M., D'Arcy, Colleen E., Holdsworth, Melissa, Hatzinisiriou, Irene, Prescott, Mark, Brown, Susan, Mitchell, Christina A.

“…The fhl1 gene encoding four-and-a-half LIM protein-1 (FHL1) and its spliced isoform, SLIMMER, is mutated in reducing body myopathy, X-linked myopathy with…”
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Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy by Friedrich, Felix W, Wilding, Brendan R, Reischmann, Silke, Crocini, Claudia, Lang, Patrick, Charron, Philippe, Müller, Oliver J, McGrath, Meagan J, Vollert, Ingra, Hansen, Arne, Linke, Wolfgang A, Hengstenberg, Christian, Bonne, Gisèle, Morner, Stellan, Wichter, Thomas, Madeira, Hugo, Arbustini, Eloisa, Eschenhagen, Thomas, Mitchell, Christina A, Isnard, Richard, Carrier, Lucie

“…Hypertrophic cardiomyopathy (HCM) is characterized by asymmetric left ventricular hypertrophy, diastolic dysfunction and myocardial disarray. HCM is caused by…”
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FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation by Wilding, Brendan R, McGrath, Meagan J, Bonne, Gisèle, Mitchell, Christina A

“…FHL1 mutations cause several clinically heterogeneous myopathies, including reducing body myopathy (RBM), scapuloperoneal myopathy (SPM) and X-linked myopathy…”
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Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy by Friedrich, Felix W., Wilding, Brendan R., Reischmann, Silke, Crocini, Claudia, Lang, Patrick, Charron, Philippe, Müller, Oliver J., McGrath, Meagan J., Vollert, Ingra, Hansen, Arne, Linke, Wolfgang A., Hengstenberg, Christian, Bonne, Gisèle, Morner, Stellan, Wichter, Thomas, Madeira, Hugo, Arbustini, Eloisa, Eschenhagen, Thomas, Mitchell, Christina A., Isnard, Richard, Carrier, Lucie

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FHL1 mutations that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation by Wilding, Brendan R., McGrath, Meagan J., Bonne, Gisèle, Mitchell, Christina A.

“…FHL1 mutations cause several clinically heterogeneous myopathies including Reducing Body Myopathy (RBM), Scapuloperoneal Myopathy (SPM) and X-Linked Myopathy…”
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Evidence for FHL 1 as a novel disease gene for isolated hypertrophic cardiomyopathy by FRIEDRICH, Felix W, WILDING, Brendan R, LINKE, Wolfgang A, HENGSTENBERG, Christian, BONNE, Gisèle, MORNER, Stellan, WICHTER, Thomas, MADEIRA, Hugo, ARBUSTINI, Eloisa, ESCHENHAGEN, Thomas, MITCHELL, Christina A, ISNARD, Richard, REISCHMANN, Silke, CARRIER, Lucie, CROCINI, Claudia, LANG, Patrick, CHARRON, Philippe, MÜLLER, Oliver J, MCGRATH, Meagan J, VOLLERT, Ingra, HANSEN, Arne

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