ACNP - Italian Periodicals Catalogue

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Results: 1-23 |

Results: 23

Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12

Authors: Pirulli, D Puzzer, D De Fusco, M Crovella, S Amoroso, A Scolari, F Viola, BF Maiorca, R Caridi, G Savoldi, S Ghiggeri, G Casari, G

Citation: D. Pirulli et al., Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12, J NEPHROL, 14(5), 2001, pp. 392-396

Molecular basis of inherited spastic paraplegias

Authors: Casari, G Rugarli, E

Citation: G. Casari et E. Rugarli, Molecular basis of inherited spastic paraplegias, CUR OP GEN, 11(3), 2001, pp. 336-342

Sporadic idiopathic cervical dystonia: exclusion of the DYT1 deletion

Authors: Sessa, M Galardi, G Agazzi, E Casari, G

Citation: M. Sessa et al., Sporadic idiopathic cervical dystonia: exclusion of the DYT1 deletion, J NEUROL, 248(9), 2001, pp. 812-813

Medullary cystic kidney disease: Past and present

Authors: Scolari, F Viola, BF Prati, E Ghiggeri, GM Caridi, G Amoroso, A Casari, G Maiorca, R

Citation: F. Scolari et al., Medullary cystic kidney disease: Past and present, CONTR NEPHR, 136, 2001, pp. 68-78

Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family

Authors: Ahmad, W Noci, S Haque, MFU Sarno, T Aridon, P Ahmad, MM Amin-ud-din, M Rafiq, MA Haque, SU De Fusco, M Ballabio, A Franco, B Casari, G

Citation: W. Ahmad et al., Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family, AM J MED G, 100(1), 2001, pp. 62-65

Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a sephardic Jewish family

Authors: Casali, C Bonifati, V Santorelli, FM Casari, G Fortini, D Patrignani, A Fabbrini, G Carrozzo, R D'Amati, G Locuratolo, N Vanacore, N Damiano, M Pierallini, A Pierelli, F Amabile, GA Meco, G

Citation: C. Casali et al., Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a sephardic Jewish family, NEUROLOGY, 56(6), 2001, pp. 802-805

Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigreesin northeast England

Authors: McDermott, CJ Dayaratne, RK Tomkins, J Lusher, ME Lindsey, JC Johnson, MA Casari, G Turnbull, DM Bushby, K Shaw, PJ

Citation: Cj. Mcdermott et al., Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigreesin northeast England, NEUROLOGY, 56(4), 2001, pp. 467-471

Existence of a genetic risk factor on chromosome 5q in Italian Coeliac Disease families

Authors: Greco, L Babron, MC Corazza, GR Percopo, S Sica, R Clot, F Fulchignoni-Lataud, MC Zavattari, P Momigliano-Richiardi, P Casari, G Gasparini, P Tosi, R Mantovani, V De Virgiliis, S Iacono, G D'Alfonso, A Selinger-Leneman, H Lemainque, A Serre, JL Clerget-Darpoux, F

Citation: L. Greco et al., Existence of a genetic risk factor on chromosome 5q in Italian Coeliac Disease families, ANN HUM GEN, 65, 2001, pp. 35-41

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

Authors: De Fusco, M Becchetti, A Patrignani, A Annesi, G Gambardella, A Quattrone, A Ballabio, A Wanke, E Casari, G

Citation: M. De Fusco et al., The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy, NAT GENET, 26(3), 2000, pp. 275-276

Phenotypic variability in Bartter syndrome type I

Authors: Bettinelli, A Ciarmatori, S Cesareo, L Tedeschi, S Ruffa, G Appiani, AC Rosini, A Grumieri, G Mercuri, B Sacco, M Leozappa, G Binda, S Cecconi, M Navone, C Curcio, C Syren, ML Casari, G

Citation: A. Bettinelli et al., Phenotypic variability in Bartter syndrome type I, PED NEPHROL, 14(10-11), 2000, pp. 940-945

Identification and characterization of YME1L1, a novel paraplegin-related gene

Authors: Coppola, M Pizzigoni, A Banfi, S Bassi, MT Casari, G Incerti, B

Citation: M. Coppola et al., Identification and characterization of YME1L1, a novel paraplegin-related gene, GENOMICS, 66(1), 2000, pp. 48-54

Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family

Authors: Russo, S Cogliati, F Cavalleri, F Cassitto, MG Giglioli, R Toniolo, D Casari, G Larizza, L

Citation: S. Russo et al., Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family, AM J MED G, 94(5), 2000, pp. 376-382

Locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16

Authors: Guerrini, R Parmeggiani, L Bonanni, P Carrozzo, R Casari, G

Citation: R. Guerrini et al., Locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16, NEUROLOGY, 55(5), 2000, pp. 738-738

A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps tochromosome 1

Authors: Gambardella, A Annesi, G De Fusco, M Patrignani, A Aguglia, U Annesi, F Pasqua, AA Spadafora, P Oliveri, RL Valentino, P Zappia, M Ballabio, A Casari, G Quattrone, A

Citation: A. Gambardella et al., A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps tochromosome 1, NEUROLOGY, 55(10), 2000, pp. 1467-1471

Aldosterone influences serum magnesium in Gitelman syndrome

Authors: Bettinelli, A Consonni, D Bianchetti, MG Colussi, G Casari, G

Citation: A. Bettinelli et al., Aldosterone influences serum magnesium in Gitelman syndrome, NEPHRON, 86(2), 2000, pp. 236-236

Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity

Authors: Ahmad, W De Fusco, M ul Haque, MF Aridon, P Sarno, T Sohail, M ul Haque, S Ahmad, M Ballabio, A Franco, B Casari, G

Citation: W. Ahmad et al., Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity, EUR J HUM G, 7(7), 1999, pp. 828-832

Identification and characterization of AFG3L2, a novel paraplegin-related gene

Authors: Banfi, S Bassi, MT Andolfi, G Marchitiello, A Zanotta, S Ballabio, A Casari, G Franco, B

Citation: S. Banfi et al., Identification and characterization of AFG3L2, a novel paraplegin-related gene, GENOMICS, 59(1), 1999, pp. 51-58

Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2

Authors: Guerrini, R Bonanni, P Nardocci, N Parmeggiani, L Piccirilli, M De Fusco, M Aridon, P Ballabio, A Carrozzo, R Casari, G

Citation: R. Guerrini et al., Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2, ANN NEUROL, 45(3), 1999, pp. 344-352

Evidence for genetic heterogeneity in benign familial hematuria

Authors: Piccini, M Casari, G Zhou, JH Bruttini, M Li Volti, S Ballabio, A Renieri, A

Citation: M. Piccini et al., Evidence for genetic heterogeneity in benign familial hematuria, AM J NEPHR, 19(4), 1999, pp. 464-467

Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: A new hereditary renal tubular-pituitary syndrome?

Authors: Bettinelli, A Rusconi, R Ciarmatori, S Righini, V Zammarchi, E Donati, MA Isimbaldi, C Bevilacqua, M Cesareo, L Tedeschi, S Garavaglia, R Casari, G

Citation: A. Bettinelli et al., Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: A new hereditary renal tubular-pituitary syndrome?, PEDIAT RES, 46(2), 1999, pp. 232-238

Increased fragmentation of von Willebrand factor, due to abnormal cleavageof the subunit, parallels disease activity in recurrent hemolytic uremic syndrome and thrombotic thrombocytopenic purpura and discloses predisposition in families

Authors: Galbusera, M Noris, M Rossi, C Orisio, S Caprioli, J Ruggeri, ZM Amadei, B Ruggenenti, P Vasile, B Casari, G Remuzzi, G

Citation: M. Galbusera et al., Increased fragmentation of von Willebrand factor, due to abnormal cleavageof the subunit, parallels disease activity in recurrent hemolytic uremic syndrome and thrombotic thrombocytopenic purpura and discloses predisposition in families, BLOOD, 94(2), 1999, pp. 610-620

Linkage disequilibrium between intra-locus variants in the aminopeptidase n gene and test of their association with coeliac disease

Authors: Giordano, M Bolognesi, E D'Alfonso, S Lessi, M Zavattari, P Oderda, G Clot, F Percopo, S Casari, G Greco, L Tosi, R Momigliano-Richiardi, P

Citation: M. Giordano et al., Linkage disequilibrium between intra-locus variants in the aminopeptidase n gene and test of their association with coeliac disease, ANN HUM GEN, 63, 1999, pp. 207-215

Identification of a new locus for medullary cystic disease, on chromosome 16p12

Authors: Scolari, F Puzzer, D Amoroso, A Caridi, G Ghiggeri, GM Maiorca, R Aridon, P De Fusco, M Ballabio, A Casari, G

Citation: F. Scolari et al., Identification of a new locus for medullary cystic disease, on chromosome 16p12, AM J HU GEN, 64(6), 1999, pp. 1655-1660

Risultati: 1-23 |