Casari Giorgio Professore ordinarioMedicineMED/03

Current address:
Neurogenomics Unit, Center for Genomics, Bioinformatics and Biostatistics,
San Raffaele Scientific Institute, and San Raffaele University, School of Medicine
Positions:
1986             
Post-doc at the EMBL (European Molecular Biology Laboratory), Heidelberg, Germany, in the “Gene structure and regulation” group directed by R. Cortese.

1987-90         
 Staff scientist, Biotechnology Department directed by F.E. Baralle, Istituto Sieroterapico Mil., Milan.
1991-94        
Group leader, Molecular Biology, Prassis-Sigma-Tau Research Institute, Milan.
1992            
Visiting scientist at the C.E.P.H. (Centre d’Etude et de Polimorphism Humaine), Paris, France, directed by M. Lathrop.
1994-2000     
Research Coordinator at TIGEM (Telethon Institute of Genetics and Medicine), Milan.
1995-2000       
Director of the Linkage Mapping Lab at TIGEM
1998-2000       
Tutor, Genetics Course, School of Medicine, “Vita-Salute” San Raffaele University, Milan
2000-2009       
Head, Human Molecular Genetics Unit, San Raffaele Scientific Institute.
2001-2002       
Conjunct Professor, Recombinant DNA Technology Course, Faculty of Biological Sciences, InsubriaUniversity, Varese.
2002-2004       
Conjunct Professor, School of Medicine, San Raffaele University, Milan. 

2005          
Full Professor of Genetics, School of Medicine, San Raffaele University, Milan.

2009            
Director, Center for Genomics, Bioinformatics, and Biostatistics, San Raffaele Scientific Institute, Milan.
2009          
Head, Neurogenomics Unit, San Raffaele Scientific Institute.
Publications
Michiorri S, Gelmetti V, Giarda E, Lombardi F, Romano F, Marongiu R, Nerini-Molteni S, Sale P, Vago R, Arena G, Torosantucci L, Cassina L, Russo MA, Dallapiccola B, Valente EM, Casari G (2010) The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy. Cell death and differentiation 17: 962-74

Maltecca F, and Casari G (2010) In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria. Methods Mol Biol. 648:257-67.

Maltecca F, Magnoni R, Cerri F, Cox GA, Quattrini A, Casari G (2009) Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28 (SCA 28), causes mitochondria-mediated Purkinje cell dark degeneration. J Neurosci 29:9244-54.

Martinelli P, La Mattina V, Bernacchia A, Magnoni R, Cerri F, Cox G, Quattrini A, Casari G, Rugarli EI (2009) Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration. Hum Mol Genet 18:2001-2013

Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, Mannucci PM, Anand S, et al. (2009) Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet 41:334-341

De Grandi A, Volpato CB, Bedin E, Pattaro C, Marroni F, Pichler I, Hicks AA, Casari G, Pramstaller PP. (2009) ParkScreen: A Low-Cost Rapid Linkage Marker Panel for Parkinson’s Disease. J Mol Neurosci. in press

Manfredi I, Zani AD, Rampoldi L, Pegorini S, Bernascone I, Moretti. M, Gotti C, Croci L, Consalez GG, Ferini-Strambi L, M. S, Pattini L, Casari G (2009) Expression of mutant β2 nicotinic receptors during development is crucial for epileptogenesis. Hum Mol Genet: 18:1075-88.

Schaeffer C, Santambrogio S, Perucca S, Casari G, Rampoldi L (2009) Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly. Mol Biol Cell. 20:589-599

Maltecca F, Aghaie A, Schroeder DG, Cassina L, Taylor BA, Phillips SJ, Malaguti M, Previtali S, Guenet JL, Quattrini A, Cox GA, Casari G (2008) The mitochondrial protease AFG3L2 is essential for axonal development. J Neurosci 28:2827-2836

Madia F, Striano P, Di Bonaventura C, de Falco A, de Falco FA, Manfredi M, Casari G, Striano S, Minetti C, Zara F (2008) Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. Neurogenetics 9:139-142

Hansen JM, Thomsen LL, Marconi R, Casari G, Olesen J, Ashina M (2008) Familial hemiplegic migraine type 2 does not share hypersensitivity to nitric oxide with common types of migraine. Cephalalgia 28:367-375

Galluccio E, Piatti P, Citterio L, Lucotti PC, Setola E, Cassina L, Oldani M, Zavaroni I, Bosi E, Colombo A, Alfieri O, Casari G, Reaven GM, Monti LD (2008) Hyperinsulinemia and impaired leptin-adiponectin ratio associate with endothelial nitric oxide synthase polymorphisms in subjects with in-stent restenosis. American journal of physiology 294:E978-986

Aridon P, Ragonese P, De Fusco M, Salemi G, Casari G, Savettieri G (2008) Further evidence of genetic heterogeneity in familial essential tremor. Parkinsonism Relat Disord 14:15-18

Sessa L, Breiling A, Lavorgna G, Silvestri L, Casari G, Orlando V (2007) Noncoding RNA synthesis and loss of Polycomb group repression accompanies the colinear activation of the human HOXA cluster. Rna 13:223-239

Koppen M, Metodiev MD, Casari G, Rugarli EI, Langer T (2007) Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia. Molecular and cellular biology 27:758-767

Del Chiaro M, Zerbi A, Falconi M, Bertacca L, Polese M, Sartori N, Boggi U, Casari G, Longoni BM, Salvia R, Caligo MA, Di Carlo V, Pederzoli P, Presciuttini S, Mosca F (2007) Cancer risk among the relatives of patients with pancreatic ductal adenocarcinoma. Pancreatology 7:459-469

Colussi G, Bettinelli A, Tedeschi S, De Ferrari ME, Syren ML, Borsa N, Mattiello C, Casari G, Bianchetti MG (2007) A thiazide test for the diagnosis of renal tubular hypokalemic disorders. Clin J Am Soc Nephrol 2:454-460

Aridon P, Ragonese P, De Fusco M, Salemi G, Casari G, Savettieri G (2007) Further evidence of genetic heterogeneity in familial essential tremor. Parkinsonism Relat Disord

Aridon P, Ragonese P, De Fusco M, Lo Coco D, Salemi G, Casari G, Savettieri G (2007) Autosomal dominant hereditary spastic paraplegia: report of a large Italian family with R581X spastin mutation. Neurol Sci 28:171-174

Vogl FD, Pichler I, Adel S, Pinggera GK, Bracco S, De Grandi A, Volpato CB, Aridon P, Mayer T, Meitinger T, Klein C, Casari G, Pramstaller PP (2006) Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate. Mov Disord 21:1189-1195

Vanmolkot KR, Kors EE, Turk U, Turkdogan D, Keyser A, Broos LA, Kia SK, van den Heuvel JJ, Black DF, Haan J, Frants RR, Barone V, Ferrari MD, Casari G, Koenderink JB, van den Maagdenberg AM (2006) Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine. Eur J Hum Genet 14:555-560

Pichler I, Marroni F, Volpato CB, Gusella JF, Klein C, Casari G, De Grandi A, Pramstaller PP (2006) Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate. Am J Hum Genet 79:716-723

Bernascone I, Vavassori S, Di Pentima A, Santambrogio S, Lamorte G, Amoroso A, Scolari F, Ghiggeri GM, Casari G, Polishchuk R, Rampoldi L (2006) Defective intracellular trafficking of uromodulin mutant isoforms. Traffic 7:1567-1579

Aridon P, Marini C, Di Resta C, Brilli E, De Fusco M, Politi F, Parrini E, Manfredi I, Pisano T, Pruna D, Curia G, Cianchetti C, Pasqualetti M, Becchetti A, Guerrini R, Casari G (2006) Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet 79:342-350

Silvestri L, Caputo V, Bellacchio E, Atorino L, Dallapiccola B, Valente EM, Casari G (2005) Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet 14:3477-3492

Riant F, De Fusco M, Aridon P, Ducros A, Ploton C, Marchelli F, Maciazek J, Bousser MG, Casari G, Tournier-Lasserve E (2005) ATP1A2 mutations in 11 families with familial hemiplegic migraine. Hum Mutat 26:281

Martinelli Boneschi F, Aridon P, Zara F, Guerrini R, Marini C, De Fusco M, Comi G, Casari G (2005) No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures. Neurosci Lett 388:71-74

Lavorgna G, Triunfo R, Santoni F, Orfanelli U, Noci S, Bulfone A, Zanetti G, Casari G (2005) AntiHunter 2.0: increased speed and sensitivity in searching BLAST output for EST antisense transcripts. Nucleic Acids Res 33:W665-668

Striano P, Chifari R, Striano S, de Fusco M, Elia M, Guerrini R, Casari G, Canevini MP (2004) A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2. Epilepsia 45:190-192

Scolari F, Caridi G, Rampoldi L, Tardanico R, Izzi C, Pirulli D, Amoroso A, Casari G, Ghiggeri GM (2004) Uromodulin storage diseases: clinical aspects and mechanisms. Am J Kidney Dis 44:987-999

Lavorgna G, Sessa L, Guffanti A, Lassandro L, Casari G (2004) AntiHunter: searching BLAST output for EST antisense transcripts. Bioinformatics 20:583-585

Lavorgna G, Dahary D, Lehner B, Sorek R, Sanderson CM, Casari G (2004) In search of antisense. Trends Biochem Sci 29:88-94

Gambaro G, Vezzoli G, Casari G, Rampoldi L, D’Angelo A, Borghi L (2004) Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms. Am J Kidney Dis 44:963-986

Ferreirinha F, Quattrini A, Pirozzi M, Valsecchi V, Dina G, Broccoli V, Auricchio A, Piemonte F, Tozzi G, Gaeta L, Casari G, Ballabio A, Rugarli EI (2004) Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest 113:231-242

Ferini-Strambi L, Bonati MT, Oldani A, Aridon P, Zucconi M, Casari G (2004) Genetics in restless legs syndrome. Sleep Med 5:301-304

Bruni AC, Takahashi-Fujigasaki J, Maltecca F, Foncin JF, Servadio A, Casari G, D’Adamo P, Maletta R, Curcio SA, De Michele G, Filla A, El Hachimi KH, Duyckaerts C (2004) Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation. Arch Neurol 61:1314-1320

Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, Zucca C, Bersano A, Dolcetta D, Boneschi FM, Barone V, Casari G (2004) A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. J Med Genet 41:621-628

Aridon P, D’Andrea G, Rigamonti A, Leone M, Casari G, Bussone G (2004) Elusive amines and cluster headache: mutational analysis of trace amine receptor cluster on chromosome 6q23. Neurol Sci 25 Suppl 3:S279-280

Zerbini G, Maestroni A, Breviario D, Mangili R, Casari G (2003) Alternative splicing of NHE-1 mediates Na-Li countertransport and associates with activity rate. Diabetes 52:1511-1518

Scolari F, Viola BF, Ghiggeri GM, Caridi G, Amoroso A, Rampoldi L, Casari G (2003) Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease. J Nephrol 16:321-328

Rampoldi L, Caridi G, Santon D, Boaretto F, Bernascone I, Lamorte G, Tardanico R, Dagnino M, Colussi G, Scolari F, Ghiggeri GM, Amoroso A, Casari G (2003) Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum Mol Genet 12:3369-3384

Monti LD, Barlassina C, Citterio L, Galluccio E, Berzuini C, Setola E, Valsecchi G, Lucotti P, Pozza G, Bernardinelli L, Casari G, Piatti P (2003) Endothelial nitric oxide synthase polymorphisms are associated with type 2 diabetes and the insulin resistance syndrome. Diabetes 52:1270-1275

Marconi R, De Fusco M, Aridon P, Plewnia K, Rossi M, Carapelli S, Ballabio A, Morgante L, Musolino R, Epifanio A, Micieli G, De Michele G, Casari G (2003) Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23. Ann Neurol 53:376-381

Maltecca F, Filla A, Castaldo I, Coppola G, Fragassi NA, Carella M, Bruni A, Cocozza S, Casari G, Servadio A, De Michele G (2003) Intergenerational instability and marked anticipation in SCA-17. Neurology 61:1441-1443

Guerrini R, Casari G, Marini C (2003) The genetic and molecular basis of epilepsy. Trends Mol Med 9:300-306

De Michele G, Maltecca F, Carella M, Volpe G, Orio M, De Falco A, Gombia S, Servadio A, Casari G, Filla A, Bruni A (2003) Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17. Neurol Sci 24:166-167

De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G (2003) Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet 33:192-196

Casari G, Amoroso A (2003) Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. J Nephrol 16:459

Bonati MT, Ferini-Strambi L, Aridon P, Oldani A, Zucconi M, Casari G (2003) Autosomal dominant restless legs syndrome maps on chromosome 14q. Brain 126:1485-1492

Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G (2003) Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol 163:777-787

Annunziata I, Lanzara C, Conte I, Zullo A, Ventruto V, Rinaldi MM, D’Urso M, Casari G, Ciccodicola A, Miano MG (2003) Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation. Am J Med Genet A 118:217-222

Toto L, Parodi MB, Baralle F, Casari G, Ravalico G, Romano M (2002) Genetic heterogeneity in Malattia Leventinese. Clin Genet 62:399-403

Syren ML, Tedeschi S, Cesareo L, Bellantuono R, Colussi G, Procaccio M, Ali A, Domenici R, Malberti F, Sprocati M, Sacco M, Miglietti N, Edefonti A, Sereni F, Casari G, Coviello DA, Bettinelli A (2002) Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome. Hum Mutat 20:78

Santoro L, Manganelli F, Di Maio L, Barbieri F, Carella M, D’Adamo P, Casari G (2002) Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. Neuromuscul Disord 12:399-404

Muglia M, Magariello A, Nicoletti G, Patitucci A, Gabriele AL, Conforti FL, Mazzei R, Caracciolo M, Casari G, Ardito B, Lastilla M, Gambardella A, Quattrone A (2002) A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. J Neurol 249:1413-1416

Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M (2002) Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 52:211-219

Guerrini R, Parmeggiani L, Casari G (2002) Epilepsy and paroxysmal dyskinesia: co-occurrence and differential diagnosis. Adv Neurol 89:433-441

Filla A, De Michele G, Cocozza S, Patrignani A, Volpe G, Castaldo I, Ruggiero G, Bonavita V, Masters C, Casari G, Bruni A (2002) Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy. Neurology 58:922-928

Becchetti A, De Fusco M, Crociani O, Cherubini A, Restano-Cassulini R, Lecchi M, Masi A, Arcangeli A, Casari G, Wanke E (2002) The functional properties of the human ether-a-go-go-like (HELK2) K+ channel. Eur J Neurosci 16:415-428

Sessa M, Galardi G, Agazzi E, Casari G (2001) Sporadic idiopathic cervical dystonia: exclusion of the DYT1 deletion. J Neurol 248:812-813

Scolari F, Viola BF, Prati E, Ghiggeri GM, Caridi G, Amoroso A, Casari G, Maiorca R (2001) Medullary cystic kidney disease: past and present. Contrib Nephrol:68-78

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 (2001) Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. J Nephrol 14:392-396

McDermott CJ, Dayaratne RK, Tomkins J, Lusher ME, Lindsey JC, Johnson MA, Casari G, Turnbull DM, Bushby K, Shaw PJ (2001) Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. Neurology 56:467-471

Guerrini R, Bonanni P, Patrignani A, Brown P, Parmeggiani L, Grosse P, Brovedani P, Moro F, Aridon P, Carrozzo R, Casari G (2001) Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2. Brain 124:2459-2475

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 (2001) Existence of a genetic risk factor on chromosome 5q in Italian coeliac disease families. Ann Hum Genet 65:35-41

Casari G, Rugarli E (2001) Molecular basis of inherited spastic paraplegias. Curr Opin Genet Dev 11:336-342

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 (2001) Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family. Neurology 56:802-805

Ahmad W, Noci S, ul Haque MF, Sarno T, Aridon P, Ahmad MM, Amin-Ud-Din M, Rafiq MA, ul Haque S, De Fusco M, Ballabio A, Franco B, Casari G (2001) Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family. Am J Med Genet 100:62-65

Russo S, Cogliati F, Cavalleri F, Cassitto MG, Giglioli R, Toniolo D, Casari G, Larizza L (2000) 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 Genet 94:376-382

Guerrini R, Parmeggiani L, Bonanni P, Carrozzo R, Casari G (2000) Locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. Neurology 55:738-739

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 (2000) A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. Neurology 55:1467-1471

De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G (2000) The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 26:275-276

Coppola M, Pizzigoni A, Banfi S, Bassi MT, Casari G, Incerti B (2000) Identification and characterization of YME1L1, a novel paraplegin-related gene. Genomics 66:48-54

Bettinelli A, Consonni D, Bianchetti MG, Colussi G, Casari G (2000) Aldosterone influences serum magnesium in Gitelman syndrome. Nephron 86:236

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 (2000) Phenotypic variability in Bartter syndrome type I. Pediatr Nephrol 14:940-945

Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton RP (1999) Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science 285:103-106

Scolari F, Puzzer D, Amoroso A, Caridi G, Ghiggeri GM, Maiorca R, Aridon P, De Fusco M, Ballabio A, Casari G (1999) Identification of a new locus for medullary cystic disease, on chromosome 16p12. Am J Hum Genet 64:1655-1660

Piccini M, Casari G, Zhou J, Bruttini M, Volti SL, Ballabio A, Renieri A (1999) Evidence for genetic heterogeneity in benign familial hematuria. Am J Nephrol 19:464-467

Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, De Fusco M, Aridon P, Ballabio A, Carrozzo R, Casari G (1999) 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 45:344-352

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 (1999) Linkage disequilibrium between intra-locus variants in the aminopeptidase n gene and test of their association with coeliac disease. Ann Hum Genet 63 ( Pt 3):207-215

Galbusera M, Noris M, Rossi C, Orisio S, Caprioli J, Ruggeri ZM, Amadei B, Ruggenenti P, Vasile B, Casari G, Remuzzi G (1999) Increased fragmentation of von Willebrand factor, due to abnormal cleavage of the subunit, parallels disease activity in recurrent hemolytic uremic syndrome and thrombotic thrombocytopenic purpura and discloses predisposition in families. The Italian Registry of Familial and Recurrent HUS/TTP. Blood 94:610-620

Bettinelli A, Rusconi R, Ciarmatori S, Righini V, Zammarchi E, Donati MA, Isimbaldi C, Bevilacqua M, Cesareo L, Tedeschi S, Garavaglia R, Casari G (1999) Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: a new hereditary renal tubular-pituitary syndrome? Pediatr Res 46:232-238

Banfi S, Bassi MT, Andolfi G, Marchitiello A, Zanotta S, Ballabio A, Casari G, Franco B (1999) Identification and characterization of AFG3L2, a novel paraplegin-related gene. Genomics 59:51-58

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 (1999) Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity. Eur J Hum Genet 7:828-832

Scolari F, Ghiggeri GM, Casari G, Amoroso A, Puzzer D, Caridi GL, Valzorio B, Tardanico R, Vizzardi V, Savoldi S, Viola BF, Bossini N, Prati E, Gusmano R, Maiorca R (1998) Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus. Nephrol Dial Transplant 13:2536-2546

Priori SG, Schwartz PJ, Napolitano C, Bianchi L, Dennis A, De Fusco M, Brown AM, Casari G (1998) A recessive variant of the Romano-Ward long-QT syndrome? Circulation 97:2420-2425

Lodwick D, Zagato L, Kaiser MA, Torielli L, Casari G, Bianchi G, Samani NJ (1998) Genetic analysis of the SA and Na+/K+-ATPase alpha1 genes in the Milan hypertensive rat. J Hypertens 16:139-144

Kenyon CJ, Panarelli M, Zagato L, Torielli L, Heeley RP, Holloway CD, Fraser R, Casari G, Sutcliffe RG, Bianchi G (1998) Glucocorticoid receptor polymorphism in genetic hypertension. J Mol Endocrinol 21:41-50

De Michele G, De Fusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, Monticelli A, Ballabio A, Casari G, Cocozza S (1998) A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet 63:135-139

Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Durr A, Fontaine B, Ballabio A (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973-983

Bettinelli A, Vezzoli G, Colussi G, Bianchetti MG, Sereni F, Casari G (1998) Genotype-phenotype correlations in normotensive patients with primary renal tubular hypokalemic metabolic alkalosis. J Nephrol 11:61-69

Heeley RP, Casari G, Zagato L, Torielli L, Sutcliffe RG, Bianchi G, Kenyon CJ (1997) Glucocorticoid receptor mutations in genetically hypertensive rats: markers of glucocorticoid insensitivity? Biochem Soc Trans 25:236S

Cusi D, Barlassina C, Azzani T, Casari G, Citterio L, Devoto M, Glorioso N, Lanzani C, Manunta P, Righetti M, Rivera R, Stella P, Troffa C, Zagato L, Bianchi G (1997) Polymorphisms of alpha-adducin and salt sensitivity in patients with essential hypertension. Lancet 349:1353-1357

Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G (1996) Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). Genomics 35:486-493

Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F, Ballabio A, Casari G (1996) Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet 59:1019-1026

Auricchio A, Casari G, Staiano A, Ballabio A (1996) Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Hum Mol Genet 5:351-354

Auricchio A, Brancolini V, Casari G, Milla PJ, Smith VV, Devoto M, Ballabio A (1996) The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. Am J Hum Genet 58:743-748

Tripodi G, Casari G, Tisminetzky S, Bianchi G, Devescovi G, Muro A, Tuteja R, Baralle FE (1995) Characterisation and chromosomal localisation of the rat alpha- and beta-adducin-encoding genes. Gene 166:307-311

Casari G, Barlassina C, Cusi D, Zagato L, Muirhead R, Righetti M, Nembri P, Amar K, Gatti M, Macciardi F, et al. (1995) Association of the alpha-adducin locus with essential hypertension. Hypertension 25:320-326

Bianchi G, Tripodi MG, Casari G, Torielli L, Cusi D, Barlassina C, Stella P, Zagato L, Barber BR (1995) alpha-adducin may control blood pressure both in rats and humans. Clin Exp Pharmacol Physiol Suppl 22:S7-9

Caputi M, Casari G, Guenzi S, Tagliabue R, Sidoli A, Melo CA, Baralle FE (1994) A novel bipartite splicing enhancer modulates the differential processing of the human fibronectin EDA exon. Nucleic Acids Res 22:1018-1022

Bianchi G, Tripodi G, Casari G, Salardi S, Barber BR, Garcia R, Leoni P, Torielli L, Cusi D, Ferrandi M, et al. (1994) Two point mutations within the adducin genes are involved in blood pressure variation. Proc Natl Acad Sci U S A 91:3999-4003

Servadio A, Casari G (1993) Novel rat calpastatin mRNA variants. Biochem Mol Biol Int 30:721-725

Cusi D, Tripodi G, Casari G, Robba C, Bollini P, Merati G, Bianchi G (1993) Genetics of renal damage in primary hypertension. Am J Kidney Dis 21:2-9

Tuteja R, Tuteja N, Melo C, Casari G, Baralle FE (1992) Transcription efficiency of human apolipoprotein A-I promoter varies with naturally occurring A to G transition. FEBS Lett 304:98-101

Casari G, Sippl MJ (1992) Structure-derived hydrophobic potential. Hydrophobic potential derived from X-ray structures of globular proteins is able to identify native folds. J Mol Biol 224:725-732

Sirtori CR, Catapano AL, Franceschini G, Corsini A, Noseda G, Fragiacomo C, Panzeri E, Vaccarino V, Guenzi S, Casari G, et al. (1991) Aortic and coronary atheromatosis in a woman with severe hypercholesterolaemia without LDL receptor alterations. Eur Heart J 12:818-824

Siri A, Carnemolla B, Saginati M, Leprini A, Casari G, Baralle F, Zardi L (1991) Human tenascin: primary structure, pre-mRNA splicing patterns and localization of the epitopes recognized by two monoclonal antibodies. Nucleic Acids Res 19:525-531

Pagani F, Zagato L, Vergani C, Casari G, Sidoli A, Baralle FE (1991) Tissue-specific splicing pattern of fibronectin messenger RNA precursor during development and aging in rat. J Cell Biol 113:1223-1229

Di Nocera PP, Casari G (1987) Related polypeptides are encoded by Drosophila F elements, I factors, and mammalian L1 sequences. Proc Natl Acad Sci U S A 84:5843-5847