Items where Author is "Torelli, S"

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Number of items: 7.

Article

Kim, J and Jimenez-Mallebrera, C and Foley, A R and Fernandez-Fuente, M and Brown, S C and Torelli, S and Feng, L and Sewry, C A and Muntoni, F (2012) Flow cytometry analysis: a quantitative method for collagen VI deficiency screening. Neuromuscular Disorders, 22 (2). pp. 139-48.

Cirak, S and Arechavala-Gomeza, V and Guglieri, M and Feng, L and Torelli, S and Anthony, K and Abbs, S and Garralda, M E and Wells, DJ and Dickson, G and Wood, M J A and Wilton, S D and Straub, V and Shrewsbury, S and Sewry, C and Morgan, J E and Bushby, K and Muntoni, F (2011) Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-esclation study. Lancet, 378 (9791). pp. 595-605.

Muntoni, F and Torelli, S and Wells, D J and Brown, S C (2011) Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies. Current Opinion in Neurology, 24 (5). pp. 437-442.

Brockington, M A and Torelli, S and Sharp, P S and Liu, K and Cirak, S and Brown, S C and Wells, D J and Muntoni, F (2010) Transgenic Overexpression of LARGE Induces alpha-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle. PLoS One, 5 (12). e14434.

Jimenez-Mallebrera, C and Torelli, S and Feng, L and Kim, J and Godfrey, C and Clement, E and Mein, R and Abbs, S and Brown, S C and Campbell, K P and Kröger, S and Talim, B and Topaloglu, H and Quinlivan, R and Roper, H and Childs, A M and Kinali, M and Sewry, C A and Muntoni, F (2009) A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. Brain Pathology, 19 (4). pp. 596-611.

Clement, E M and Godfrey, C and Tan, J and Brockington, M A and Torelli, S and Feng, L and Brown, S C and Jimenez-Mallebrera, C and Sewry, C A and Longman, C and Mein, R and Abbs, S and Vajsar, J and Schachter, H and Muntoni, F (2008) Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Archives of Neurology, 65 (1). pp. 137-4.

Conference or Workshop Item

Cirak, S and Arechavala-Gomeza, V and Guglieri, M and Feng, L and Torelli, S and Anthony, K and Garralda, M E and Wells, D J and Dickson, G and Wood, M J A and Wilton, S D and Straub, V and Shrewsbury, S B and Sewry, C and Morgan, J E and Bushby, K and Muntoni, F (2011) EXON SKIPPING AND DYSTROPHIN RESTORATION IN DUCHENNE MUSCULAR DYSTROPHY PATIENTS AFTER SYSTEMIC PHOSPHORODIAMIDATE MORPHOLINO OLIGOMER TREATMENT. In: UNSPECIFIED.

This list was generated on Thu Dec 2 07:20:10 2021 GMT.