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발행년	- (예 : 2010-2015)

전체선택

A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre

Academic Journal

Wong, Wui-Kwan; Bryen, Samantha J; Bournazos, Adam; Yasa, Joe; Lemckert, Frances; Bommireddipall, Shobhana; Waddell, Leigh B; Menezes, Manoj P; Webster, Richard; Davis, Mark; Liang, Christina; Cooper, Sandra T; Jones, Kristi J

In Neuromuscular Disorders September 2022 32(9):707-717

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science JCR 저널정보 Scopus Find it@PNU

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.

Academic Journal

Evesson, Frances J; Dziaduch, Gregory; Bryen, Samantha J; Moore, Francesca; Pittman, Sara; Devanapalli, Beena; Waddell, Leigh B; Ryan, Monique M; Menezes, Manoj P; Weihl, Conrad C; Tolun, Adviye Ayper; Zaidman, Craig; Young, Helen; Adès, Lesley C; Cooper, Sandra T

Human Molecular Genetics; Jun2023, Vol. 32 Issue 12, p2084-2092, 9p

Full Text (Oxford University Press) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants.

Academic Journal

Jones, Hannah F; Bryen, Samantha J; Waddell, Leigh B; Bournazos, Adam; Davis, Mark; Farrar, Michelle A; McLean, Catriona A; Mowat, David R; Sampaio, Hugo; Woodcock, Ian R; Ryan, Monique M; Jones, Kristi J; Cooper, Sandra T

Neuromuscular Disorders. Dec2019, Vol. 29 Issue 12, p913-919. 7p.

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science JCR 저널정보 Scopus Find it@PNU

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Electronic Resource

Bryen, Samantha J; Ewans, Lisa J; Pinner, Jason; MacLennan, Suzanna C; Donkervoort, Sandra; Castro, Diana; Töpf, Ana; O'Grady, Gina; Cummings, Beryl; Chao, Katherine R; Weisburd, Ben; Francioli, Laurent; Faiz, Fathimath; Bournazos, Adam M; Hu, Ying; Grosmann, Carla; Malicki, Denise M; Doyle, Helen; Witting, Nanna; Vissing, John; Claeys, Kristl G; Urankar, Kathryn; Beleza-Meireles, Ana; Baptista, Julia; Ellard, Sian; Savarese, Marco; Johari, Mridul; Vihola, Anna; Udd, Bjarne; Majumdar, Anirban; Straub, Volker; Bönnemann, Carsten G; MacArthur, Daniel G; Davis, Mark R; Cooper, Sandra T

Bryen , S J , Ewans , L J , Pinner , J , MacLennan , S C , Donkervoort , S , Castro , D , Töpf , A , O'Grady , G , Cummings , B , Chao , K R , Weisburd , B , Francioli , L , Faiz , F , Bournazos , A M , Hu , Y , Grosmann , C , Malicki , D M , Doyle , H , Witting , N , Vissing , J , Claeys , K G , Urankar , K , Beleza-Meireles , A , Baptista , J , Ellard , S , Savarese , M , Johari , M , Vihola , A , Udd , B , Majumdar , A , Straub , V , Bönnemann , C G , MacArthur , D G , Davis , M R & Cooper , S T 2020 , ' Recurrent TTN metatranscript-only c.39974-11T >G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy ' , Human Mutation , vol. 41 , no. 2 , pp. 403-411 .

Open Access (OAIster)

The Syntrophin-Dystrobrevin Subcomplex in Human Neuromuscular Disorders.

Academic Journal

Compton, Alison G; Cooper, Sandra T; Hill, Penelope M; Yang, Nan; Froehner, Stanley C; North, Kathryn N

Journal of Neuropathology & Experimental Neurology; Apr2005, Vol. 64 Issue 4, p350-361, 12p

Full Text (Oxford University Press) Full Text (ProQuest Central) Full Text (OUP Near Archive) Web of Science JCR 저널정보 Scopus Find it@PNU

Single section Western blot: improving the molecular diagnosis of the muscular dystrophies.

Academic Journal

Cooper, Sandra T; Lo, Harriet P; North, Kathryn N

Neurology; 2003 Jul 8, Vol. 61 Issue 1, p93-97, 5p

Full Text (LWW Journals - Ovid) Full Text (LWW total - Ovid) Full Text (LWW Premier Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

Academic Journal

Riley, Lisa G; Menezes, Minal J; Rudinger-Thirion, JoÃ«lle; Duff, Rachael; de Lonlay, Pascale; Rotig, Agnes; Tchan, Michel C; Davis, Mark; Cooper, Sandra T; Christodoulou, John

Orphanet Journal of Rare Diseases. December 17, 2013, Vol. 8

EBSCOHost PDF Full Text (Gale Academic Onefile) Full Text (ProQuest Central) Open Access (BioMed Central) Web of Science JCR 저널정보 Scopus Find it@PNU

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