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Mostrati risultati da 1 a 20 di 166
Titolo Data di pubblicazione Autore(i) File
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 1-gen-2000 Semprini, S; Mango, R; Brancati, F; Dallapiccola, B; Becherini, L; Novelli, G; De Lorenzo, A; Brandi, Ml; Gennari, L.
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 1-gen-2001 Semprini, S; Tacconelli, A; Capon, F; Brancati, F; Dallapiccola, B; Novelli, G.
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome. 1-gen-2002 A, Sarkozy; R, Mingarelli; Brancati, F.; B, Dallapiccola
PARK6-linked parkinsonism occurs in several European families. 1-gen-2002 Valente, Em; Brancati, F; Ferraris, A; Graham, Ea; Davis, Mb; Breteler, Mm; Gasser, T; Bonifati, V; Bentivoglio, Ar; De Michele, G; Dürr, A; Cortelli, P; Wassilowsky, D; Harhangi, Bs; Rawal, Narinder; Caputo, V; Filla, A; Meco, Giocondo; Oostra, Ba; Brice, A; Albanese, Angela; Dallapiccola, B; Wood, Nw; European Consortium on Genetic Susceptibility in Parkinson's, Disease.
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 1-gen-2002 Brancati, F.; G, Defazio; V, Caputo; Em, Valente; A, Pizzuti; P, Livrea; A, Berardelli; B, Dallapiccola
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 1-gen-2002 Em, Valente; Brancati, F.; V, Caputo; E, Bertini; C, Patrono; D, Costanti; B, Dallapiccola
PARK6 is a common cause of familial parkinsonism. 1-gen-2002 Valente, Em; Brancati, F; Caputo, V; Graham, Ea; Davis, Mb; Ferraris, A; Breteler, Mm; Gasser, T; Bonifati, V; Bentivoglio, Ar; De Michele, G; Dürr, A; Cortelli, P; Filla, A; Meco, G; Oostra, Ba; Brice, A; Albanese, A; Dallapiccola, B; Wood, Nw; European Consortium on Genetic Susceptibility in Parkinson's, Disease
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 1-gen-2003 Em, Valente; Dc, Salpietro; Brancati, F.; E, Bertini; T, Galluccio; G, Tortorella; S, Briuglia; B, Dallapiccola
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 1-gen-2003 Brancati, F.; Em, Valente; Np, Davies; A, Sarkozy; Mg, Sweeney; M, Lomonaco; A, Pizzuti; Mg, Hanna; B, Dallapiccola
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 1-gen-2003 Em, Valente; A, Misbahuddin; Brancati, F.; Mr, Placzek; B, Garavaglia; S, Salvi; A, Nemeth; C, SHAW-SMITH; N, Nardocci; Ar, Bentivoglio; A, Berardelli; R, Eleopra; B, Dallapiccola; Tt, Warner
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 1-gen-2003 Brancati, F.; Em, Valente; M, Castori; N, Vanacore; M, Sessa; G, Galardi; A, Berardelli; Ar, Bentivoglio; G, Defazio; P, Girlanda; G, Abbruzzese; A, Albanese; B, Dallapiccola; MOVEMENT DISORDER STUDY GROUP, Italian
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 1-gen-2003 G, Defazio; Brancati, F.; Em, Valente; V, Caputo; A, Pizzuti; D, Martino; G, Abbruzzese; P, Livrea; A, Berardelli; B, Dallapiccola
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 1-gen-2003 Brancati, F.; Em, Valente; G, Tadini; V, Caputo; A, DI BENEDETTO; C, Gelmetti; B, Dallapiccola
Recurrent triploidy of maternal origin. 1-gen-2003 Brancati, F; R, Mingarelli; B, Dallapiccola
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 1-gen-2004 Brancati, F.; Em, Valente; A, Sarkozy; J, Feher; M, Castori; P, DEL DUCA; R, Mingarelli; A, Pizzuti; B, Dallapiccola
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 1-gen-2004 Casali, C; Valente, Em; Bertini, E; Montagna, G; Criscuolo, C; DE MICHELE, G; Villanova, M; Damiano, M; Pierallini, A; Brancati, F.; Scarano, V; Tessa, A; Cricchi, F; Grieco, Gs; Muglia, M; Carella, M; Martini, B; Rossi, A; Amabile, Ga; Nappi, G; Filla, A; Dallapiccola, B; Santorelli, Fm
Ablepharon-macrostomia syndrome in a 46-year-old woman. 1-gen-2004 Brancati, F.; R, Mingarelli; A, Sarkozy; B, Dallapiccola
KBG syndrome in a cohort of Italian patients. 1-gen-2004 Brancati, F.; Mg, D'Avanzo; Mc, Digilio; A, Sarkozy; M, Biondi; D, DE BRASI; R, Mingarelli; B, Dallapiccola
A novel family with an unusual early onset generalized dystonia. 1-gen-2005 G, Fabbrini; Brancati, F.; L, Vacca; Em, Valente; A, Nemeth; A, Meesaq; N, Sykes; B, Dallapiccola; A, Berardelli
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 1-gen-2005 M, Castori; Em, Valente; M, Clementi; Ap, Tormene; Brancati, F.; V, Caputo; B, Dallapiccola
Mostrati risultati da 1 a 20 di 166
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