화학공학소재연구정보센터
검색결과 : 7건
No. Article
1 Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated alpha-dystroglycan
Marchese M, Pappalardo A, Baldacci J, Verri T, Doccini S, Cassandrini D, Bruno C, Fiorillo C, Garcia-Gil M, Bertini E, Pitto L, Santorelli FM
Biochemical and Biophysical Research Communications, 477(1), 137, 2016
2 Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene
Fiorillo C, Brisca G, Cassandrini D, Scapolan S, Astrea G, Valle M, Scuderi F, Trucco F, Natali A, Magnano G, Gazzerro E, Minetti C, Arca M, Santorelli FM, Bruno C
Biochemical and Biophysical Research Communications, 430(1), 241, 2013
3 Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNA(Asn) gene
Bruno C, Cassandrini D, Fattori F, Pedemonte M, Fiorillo C, Brigati G, Brisca G, Minetti C, Santorelli FM
Biochemical and Biophysical Research Communications, 412(4), 518, 2011
4 Clinical and genetic characterization of Chanarin-Dorfman syndrome
Bruno C, Bertini E, Di Rocco M, Cassandrini D, Ruffa G, De Toni T, Seri M, Spada M, Volti GL, D'Amico A, Trucco F, Arca M, Casali C, Angelini C, DiMauro S, Minetti C
Biochemical and Biophysical Research Communications, 369(4), 1125, 2008
5 Null mutations and lethal congenital form of glycogen storage disease type IV
Assereto S, van Diggelen OP, Diogo L, Morava E, Cassandrini D, Carreira I, de Boode WP, Dilling J, Garcia P, Henriques M, Rebelo O, ter Laak H, Minetti C, Bruno C
Biochemical and Biophysical Research Communications, 361(2), 445, 2007
6 POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes
Biancheri R, Falace A, Tessa A, Pedernonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C
Biochemical and Biophysical Research Communications, 363(4), 1033, 2007
7 A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy
Cassandrini D, Calevo MG, Tessa A, Manfredi G, Fattori F, Meschini MC, Carrozzo R, Tonoli E, Pedemonte M, Minetti C, Zara F, Santorelli FM, Bruno C
Biochemical and Biophysical Research Communications, 342(2), 387, 2006