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author = "Sewry, Caroline"
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Found 16 documents, displaying page 2 of 2

A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

Author(s) : Mitsuhashi, Satomi , Ohkuma, Aya , Talim, Beril , Karahashi, Minako , Koumura, Tomoko , Aoyama, Chieko , Kurihara, Mana
Description : Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been identified, but several cases of congenital muscular dystrophy remain molecularly ...
Repository : Europe PubMed Central
Language(s) : English

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

Author(s) : Anthony, Karen , Cirak, Sebahattin , Torelli, Silvia , Tasca, Giorgio , Feng, Lucy , Arechavala-Gomeza, Virginia , Armaroli, Annarita
Description : Duchenne muscular dystrophy is caused by mutations in the DMD gene that disrupt the open reading frame and prevent the full translation of its protein product, dystrophin. Restoration of the open reading frame and dystrophin production can be achieved by exon skipping using antisense oligonucleotide...
Repository : Europe PubMed Central
Language(s) : English

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

Author(s) : Cirak, Sebahattin , Foley, Aileen Reghan , Herrmann, Ralf , Willer, Tobias , Yau, Shu , Stevens, Elizabeth , Torelli, Silvia
Description : Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker–Warburg syndrome, to mild forms of adult-onset limb-girdle muscular dystrophy. Their hallmark is a reduction in the func...
Repository : Europe PubMed Central
Language(s) : English

Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actin

Author(s) : Nowak, Kristen J. , Ravenscroft, Gianina , Jackaman, Connie , Filipovska, Aleksandra , Davies, Stefan M. , Lim, Esther M.
Description : Skeletal muscle α-actin (ACTA1) is the major actin in postnatal skeletal muscle. Mutations of ACTA1 cause mostly fatal congenital myopathies. Cardiac α-actin (ACTC) is the major striated actin in adult heart and fetal skeletal muscle. It is unknown why ACTC and ACTA1 expression switch during develop...
Repository : Europe PubMed Central
Language(s) : English

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1

Author(s) : Schessl, Joachim , Taratuto, Ana L. , Sewry, Caroline , Battini, Roberta , Chin, Steven S. , Maiti, Baijayanta , Dubrovsky, Alberto L.
Description : We recently identified the X-chromosomal four and a half LIM domain gene FHL1 as the causative gene for reducing body myopathy, a disorder characterized by progressive weakness and intracytoplasmic aggregates in muscle that exert reducing activity on menadione nitro-blue-tetrazolium (NBT). The mutat...
Repository : Europe PubMed Central
Language(s) : English

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

Author(s) : Schessl, Joachim , Zou, Yaqun , McGrath, Meagan J. , Cowling, Belinda S. , Maiti, Baijayanta , Chin, Steven S. , Sewry, Caroline
Description : Reducing body myopathy (RBM) is a rare disorder causing progressive muscular weakness characterized by aggresome-like inclusions in the myofibrils. Identification of genes responsible for RBM by traditional genetic approaches has been impossible due to the frequently sporadic occurrence in affected ...
Repository : Europe PubMed Central
Language(s) : English
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Found 16 documents, displaying page 2 of 2