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收藏分享 收藏 分享 收藏 分享 收藏 Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
Marttila, Minttu; Lehtokari, Vilma-Lotta; Marston, Steven; Nyman, Tuula A.; Barnerias, Christine; Beggs, Alan H.; Bertini, Enrico; Ceyhan-Birsoy, Oezge; Cintas, Pascal; Gerard, Marion; Gilbert-Dussardier, Brigitte; Hogue, Jacob S.; Longman, Cheryl; Eymard, Bruno; Frydman, Moshe; Kang, Peter B.; Klinge, Lars; Kolski, Hanna; Lochmueller, Hans; Magy, Laurent; Manel, Veronique; Mayer, Michele; Mercuri, Eugenio; North, Kathryn N.; Peudenier-Robert, Sylviane; Pihko, Helena; Probst, Frank J.; Reisin, Ricardo; Stewart, Willie; Taratuto, Ana Lia; de Visser, Marianne; Wilichowski, Ekkehard; Winer, John; Nowak, Kristen; Laing, Nigel G.; Winder, Tom L.; Monnier, Nicole; Clarke, Nigel F.; Pelin, Katarina; Groenholm, Mikaela; Wallgren-Pettersson, Carina 分享 收藏 Two recurrent mutations are associated with GNE myopathy in the North of BritainChaouch, Amina; Brennan, Kathryn M.; Hudson, Judith; Longman, Cheryl; McConville, John; Morrison, Patrick J.; Farrugia, Maria E.; Petty, Richard; Stewart, Willie; Norwood, Fiona; Horvath, Rita; Chinnery, Patrick F.; Costigan, Donald; Winer, John; Polvikoski, Tuomo; Healy, Estelle; Sarkozy, Anna; Evangelista, Teresinha; Pogoryelova, Oksana; Eagle, Michelle; Bushby, Kate; Straub, Volker; Lochmueller, Hanns 分享 收藏 分享 收藏 ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene MutationSarkozy, Anna; Hicks, Debbie; Hudson, Judith; Laval, Steve H.; Barresi, Rita; Hilton-Jones, David; Deschauer, Marcus; Harris, Elizabeth; Rufibach, Laura; Hwang, Esther; Bashir, Rumaisa; Walter, Maggie C.; Krause, Sabine; van den Bergh, Peter; Illa, Isabel; Penisson-Besnier, Isabelle; De Waele, Liesbeth; Turnbull, Doug; Guglieri, Michela; Schrank, Bertold; Schoser, Benedikt; Seeger, Juergen; Schreiber, Herbert; Glaeser, Dieter; Eagle, Michelle; Bailey, Geraldine; Walters, Richard; Longman, Cheryl; Norwood, Fiona; Winer, John; Muntoni, Francesco; Hanna, Michael; Roberts, Mark; Bindoff, Laurence A.; Brierley, Charlotte; Cooper, Robert G.; Cottrell, David A.; Davies, Nick P.; Gibson, Andrew; Gorman, Grainne S.; Hammans, Simon; Jackson, Andrew P.; Khan, Aijaz; Lane, Russell; McConville, John; McEntagart, Meriel; Al-Memar, Ali; Nixon, John; Panicker, Jay; Parton, Matt; Petty, Richard; Price, Christopher J.; Rakowicz, Wojtek; Ray, Partha; Schapira, Anthony H.; Swingler, Robert; Turner, Chris; Wagner, Kathryn R.; Maddison, Paul; Shaw, Pamela J.; Straub, Volker; Bushby, Kate; Lochmueller, Hanns 分享 收藏 Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2Murphy, Sinead M.; Ernst, Daniela; Wei, Yu; Laura, Matilde; Liu, Yo-Tsen; Polke, James; Blake, Julian; Winer, John; Houlden, Henry; Hornemann, Thorsten; Reilly, Mary M. 分享 收藏 Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failurePfeffer, Gerald; Barresi, Rita; Wilson, Ian J.; Hardy, Steven A.; Griffin, Helen; Hudson, Judith; Elliott, Hannah R.; Ramesh, Aravind V.; Radunovic, Aleksandar; Winer, John B.; Vaidya, Sujit; Raman, Ashok; Busby, Mark; Farrugia, Maria E.; Ming, Alec; Everett, Chris; Emsley, Hedley C. A.; Horvath, Rita; Straub, Volker; Bushby, Kate; Lochmueller, Hanns; Chinnery, Patrick F.; Sarkozy, Anna 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 
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