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Mostrati risultati da 1 a 20 di 155
Titolo Data di pubblicazione Autore(i) File
H. Morreau phD thesis- Erasmus University- Rotterdam Holland 1992 A. MORRONE; H. MORREAU; X.Y. ZHOU; E.ZAMMARCHI; W.J. KLEIJER; H. GALJAARD; A. D'AZZO; ABERRANTLY SPLICED BGALACTOSIDASE MRNA WITH TWENTY NUCLEOTIDE INTRONIC INSERTION CAUSES AN INFANTILE FORM OF GMGANGLIOSIDOSIS. IN STRUCTURAL AND FUNCTIONAL ANALYSIS OF LYSOSOMAL BGALACTOSIDASE AND ITS RELATION TO THE PROTECTIVEPROTEIN.
Insertion of a T Next to the Donor Splice Site of Intron 1 Causes Aberrantly Spliced mRNA in a Case of Infantile GM1-Gangliosidosis. 1994 A. MORRONE; H. MORREAU; X.Y. ZHOU; E. ZAMMARCHI; W.J. KLEIJER; H. GALJAARD; A. D'AZZO
An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy. 1995 A. MORRONE; E. PEGORARO; E. ZAMMARCHI; E. HOFFMAN; A. FIDZIANSKA; B. RYNIEWICZ; A. ILNICKA
Ipertransaminasemia e difetto di ornitinatranscarbamilasi. 1995 E. ZAMMARCHI; M.A. DONATI; L. FILIPPI; A. MORRONE; T. REPETTO; G. MASCOLO; L. COMELLINI
Making Sense of Myotonic Dystrophy. Annual Genetics Meeting: Some Puzzles, Some Answers 1995 Hoffman EP; Morrone A
Early-infantile galactosyalidosis: clinical, biochemical, and molecular observations in a new case 1996 E. ZAMMARCHI; M. A. DONATI; A. MORRONE; G. DONZELLI; X.Y. ZHOU; A. DAZZO
MOLECULAR AND BIOCHEMICAL ANALYSIS OF PROTECTIVE PROTEIN/CATHEPSIN A MUTATIONS: CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS. 1996 Zhou XY; van der Spoel A; Rottier R; Hale G; Willemsen R; Berry GT;Strisciuglio P; Morrone A; Zammarchi E; Andria G; d'Azzo A.
Identification of new mutations in six Italian patients affected by a variant form of infantile GM1-gangliosidosis with severe cardiomyopathy. 1997 Morrone A.; Bardelli T.; Donati M.A.;
Asymptomatic dystrophinopathy 1997 MORRONE A; E. ZAMMARCHI; DONATI MA; SCHACHERI PC; HOOP RC; SERVIDEI S; GALLUZZI G; HOFFMAN EP
RNA Metabolism in Myotonic Dystrophy. RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulinreceptor RNA and protein consistent with abnormal insulin resistance. 1997 A. MORRONE; E. PEGORARO; C. ANGELINI; E. ZAMMARCHI; G. MARCONI; E.P. HOFFMAN
“Infantile GM1-gangliosidosis: new mutations in the b-galactosidase gene identified in two patients with cardiomyopathy”. 1999 A. MORRONE; T. BARDELLI; A.CACIOTTI; M.A.DONATI; G. DE GREGORIO; A. DAZZO; E. ZAMMARCHI
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 2000 PORFIRIO B; CHIARELLI I; GRAZIANO C; MANNONI A; MORRONE A; E. ZAMMARCHI; DE BERNABE' DB; DE CORDOBA S R
Lymphocytes mRNA analysis of the Ornithine Transcarbamilase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutation 2000 M. GIORGI; A. MORRONE; MA. DONATI; F. CIANI; T. BARDELLI; G. BIASUCCI; E. ZAMMARCHI
ß-Galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. 2000 MORRONE A; BARDELLI T; DONATI MA; GIORGI M; DI ROCCO M; GATTI R; PARINI R; RICCI G; TADDEUCCI A; D'AZZO E; E. ZAMMARCHI
Genotype-phenotype correlations in methylmalonyl-CoA mutase deficiency 2001 Cavicchi C.; Morrone A.;
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. 2001 S. FUNGHINI; E. PASQUINI; M. DONATI; A. MORRONE; E. ZAMMARCHI; M. CAPPELLINI; C. FONDA
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. 2002 FUNGHINI S; DONATI MA; PASQUINI E; GASPERINI S; CIANI F; MORRONE A; E. ZAMMARCHI
Mutation analysis and X-inactivation studies in the galactosidase A gene 2002 Morrone A.; Cavicchi C.;
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. 2002 BISANZI S; MORRONE A; DONATI MA; PASQUINI E; SPADA M; STRISCIUGLIO P; PARENTI G; G PARINI R; PAPADIA F; E. ZAMMARCHI
CLINICAL FINDINGS AND BIOCHEMICAL AND MOLECULAR ANALYSIS OF FOUR PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 2002 A. MORRONE; S. MALVAGIA; MA. DONATI; S. FUNGHINI; F.CIANI; I. PELA; A. BONEH; H. PETERS; E. PASQUINI; E. ZAMMARCHI
Mostrati risultati da 1 a 20 di 155
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