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    Results: 1 to 50 of 141

    1.

    Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration.

    Maltecca F, Magnoni R, Cerri F, Cox GA, Quattrini A, Casari G.

    J Neurosci. 2009 Jul 22;29(29):9244-54.PMID: 19625515 [PubMed - indexed for MEDLINE]Related articles

    2.

    ParkScreen: a low-cost rapid linkage marker panel for Parkinson's disease.

    De Grandi A, Volpato CB, Bedin E, Pattaro C, Marroni F, Pichler I, Hicks AA, Casari G, Pramstaller PP.

    J Mol Neurosci. 2009 Sep;39(1-2):235-41. Epub 2009 Mar 25.PMID: 19319700 [PubMed - in process]Related articles

    3.

    Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration.

    Martinelli P, La Mattina V, Bernacchia A, Magnoni R, Cerri F, Cox G, Quattrini A, Casari G, Rugarli EI.

    Hum Mol Genet. 2009 Jun 1;18(11):2001-13. Epub 2009 Mar 16.PMID: 19289403 [PubMed - indexed for MEDLINE]Related articles

    4.

    Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.

    Myocardial Infarction Genetics Consortium, Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, Mannucci PM, Anand S, Engert JC, Samani NJ, Schunkert H, Erdmann J, Reilly MP, Rader DJ, Morgan T, Spertus JA, Stoll M, Girelli D, McKeown PP, Patterson CC, Siscovick DS, O'Donnell CJ, Elosua R, Peltonen L, Salomaa V, Schwartz SM, Melander O, Altshuler D, Ardissino D, Merlini PA, Berzuini C, Bernardinelli L, Peyvandi F, Tubaro M, Celli P, Ferrario M, Fetiveau R, Marziliano N, Casari G, Galli M, Ribichini F, Rossi M, Bernardi F, Zonzin P, Piazza A, Mannucci PM, Schwartz SM, Siscovick DS, Yee J, Friedlander Y, Elosua R, Marrugat J, Lucas G, Subirana I, Sala J, Ramos R, Kathiresan S, Meigs JB, Williams G, Nathan DM, MacRae CA, O'Donnell CJ, Salomaa V, Havulinna AS, Peltonen L, Melander O, Berglund G, Voight BF, Kathiresan S, Hirschhorn JN, Asselta R, Duga S, Spreafico M, Musunuru K, Daly MJ, Purcell S, Voight BF, Purcell S, Nemesh J, Korn JM, McCarroll SA, Schwartz SM, Yee J, Kathiresan S, Lucas G, Subirana I, Elosua R, Surti A, Guiducci C, Gianniny L, Mirel D, Parkin M, Burtt N, Gabriel SB, Samani NJ, Thompson JR, Braund PS, Wright BJ, Balmforth AJ, Ball SG, Hall AS; Wellcome Trust Case Control Consortium, Schunkert H, Erdmann J, Linsel-Nitschke P, Lieb W, Ziegler A, König I, Hengstenberg C, Fischer M, Stark K, Grosshennig A, Preuss M, Wichmann HE, Schreiber S, Schunkert H, Samani NJ, Erdmann J, Ouwehand W, Hengstenberg C, Deloukas P, Scholz M, Cambien F, Reilly MP, Li M, Chen Z, Wilensky R, Matthai W, Qasim A, Hakonarson HH, Devaney J, Burnett MS, Pichard AD, Kent KM, Satler L, Lindsay JM, Waksman R, Epstein SE, Rader DJ, Scheffold T, Berger K, Stoll M, Huge A, Girelli D, Martinelli N, Olivieri O, Corrocher R, Morgan T, Spertus JA, McKeown P, Patterson CC, Schunkert H, Erdmann E, Linsel-Nitschke P, Lieb W, Ziegler A, König IR, Hengstenberg C, Fischer M, Stark K, Grosshennig A, Preuss M, Wichmann HE, Schreiber S, Hólm H, Thorleifsson G, Thorsteinsdottir U, Stefansson K, Engert JC, Do R, Xie C, Anand S, Kathiresan S, Ardissino D, Mannucci PM, Siscovick D, O'Donnell CJ, Samani NJ, Melander O, Elosua R, Peltonen L, Salomaa V, Schwartz SM, Altshuler D.

    Nat Genet. 2009 Mar;41(3):334-41. Epub 2009 Feb 8.PMID: 19198609 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis.

    Manfredi I, Zani AD, Rampoldi L, Pegorini S, Bernascone I, Moretti M, Gotti C, Croci L, Consalez GG, Ferini-Strambi L, Sala M, Pattini L, Casari G.

    Hum Mol Genet. 2009 Mar 15;18(6):1075-88. Epub 2009 Jan 18.PMID: 19153075 [PubMed - indexed for MEDLINE]Related articles

    6.

    Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly.

    Schaeffer C, Santambrogio S, Perucca S, Casari G, Rampoldi L.

    Mol Biol Cell. 2009 Jan;20(2):589-99. Epub 2008 Nov 12.PMID: 19005207 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Hyperinsulinemia and impaired leptin-adiponectin ratio associate with endothelial nitric oxide synthase polymorphisms in subjects with in-stent restenosis.

    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.

    Am J Physiol Endocrinol Metab. 2008 May;294(5):E978-86. Epub 2008 Mar 18.PMID: 18349107 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    The mitochondrial protease AFG3L2 is essential for axonal development.

    Maltecca F, Aghaie A, Schroeder DG, Cassina L, Taylor BA, Phillips SJ, Malaguti M, Previtali S, Guénet JL, Quattrini A, Cox GA, Casari G.

    J Neurosci. 2008 Mar 12;28(11):2827-36.PMID: 18337413 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Familial hemiplegic migraine type 2 does not share hypersensitivity to nitric oxide with common types of migraine.

    Hansen JM, Thomsen LL, Marconi R, Casari G, Olesen J, Ashina M.

    Cephalalgia. 2008 Apr;28(4):367-75. Epub 2008 Feb 22.PMID: 18294248 [PubMed - indexed for MEDLINE]Related articles

    10.

    Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families.

    Madia F, Striano P, Di Bonaventura C, de Falco A, de Falco FA, Manfredi M, Casari G, Striano S, Minetti C, Zara F.

    Neurogenetics. 2008 May;9(2):139-42. Epub 2008 Jan 30.PMID: 18231815 [PubMed - indexed for MEDLINE]Related articles

    11.

    Cancer risk among the relatives of patients with pancreatic ductal adenocarcinoma.

    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.

    Pancreatology. 2007;7(5-6):459-69. Epub 2007 Oct 1.PMID: 17912010 [PubMed - indexed for MEDLINE]Related articles

    12.

    Further evidence of genetic heterogeneity in familial essential tremor.

    Aridon P, Ragonese P, De Fusco M, Salemi G, Casari G, Savettieri G.

    Parkinsonism Relat Disord. 2008;14(1):15-8. Epub 2007 Aug 20.PMID: 17703985 [PubMed - indexed for MEDLINE]Related articles

    13.

    A thiazide test for the diagnosis of renal tubular hypokalemic disorders.

    Colussi G, Bettinelli A, Tedeschi S, De Ferrari ME, Syrén ML, Borsa N, Mattiello C, Casari G, Bianchetti MG.

    Clin J Am Soc Nephrol. 2007 May;2(3):454-60. Epub 2007 Mar 14.PMID: 17699451 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Autosomal dominant hereditary spastic paraplegia: report of a large Italian family with R581X spastin mutation.

    Aridon P, Ragonese P, De Fusco M, Lo Coco D, Salemi G, Casari G, Savettieri G.

    Neurol Sci. 2007 Aug;28(4):171-4. Epub 2007 Aug 10.PMID: 17690846 [PubMed - indexed for MEDLINE]Related articles

    15.

    Noncoding RNA synthesis and loss of Polycomb group repression accompanies the colinear activation of the human HOXA cluster.

    Sessa L, Breiling A, Lavorgna G, Silvestri L, Casari G, Orlando V.

    RNA. 2007 Feb;13(2):223-39. Epub 2006 Dec 21.PMID: 17185360 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia.

    Koppen M, Metodiev MD, Casari G, Rugarli EI, Langer T.

    Mol Cell Biol. 2007 Jan;27(2):758-67. Epub 2006 Nov 13.PMID: 17101804 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Defective intracellular trafficking of uromodulin mutant isoforms.

    Bernascone I, Vavassori S, Di Pentima A, Santambrogio S, Lamorte G, Amoroso A, Scolari F, Ghiggeri GM, Casari G, Polishchuk R, Rampoldi L.

    Traffic. 2006 Nov;7(11):1567-79. Epub 2006 Sep 30.PMID: 17010121 [PubMed - indexed for MEDLINE]Related articles

    18.

    Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate.

    Pichler I, Marroni F, Volpato CB, Gusella JF, Klein C, Casari G, De Grandi A, Pramstaller PP.

    Am J Hum Genet. 2006 Oct;79(4):716-23. Epub 2006 Aug 14.PMID: 16960808 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear.

    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.

    Am J Hum Genet. 2006 Aug;79(2):342-50. Epub 2006 Jun 26.PMID: 16826524 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate.

    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.

    Mov Disord. 2006 Aug;21(8):1189-95.PMID: 16685686 [PubMed - indexed for MEDLINE]Related articles

    21.

    Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.

    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.

    Eur J Hum Genet. 2006 May;14(5):555-60.PMID: 16538223 [PubMed - indexed for MEDLINE]Related articlesFree article

    22.

    Proteome survey reveals modularity of the yeast cell machinery.

    Gavin AC, Aloy P, Grandi P, Krause R, Boesche M, Marzioch M, Rau C, Jensen LJ, Bastuck S, Dümpelfeld B, Edelmann A, Heurtier MA, Hoffman V, Hoefert C, Klein K, Hudak M, Michon AM, Schelder M, Schirle M, Remor M, Rudi T, Hooper S, Bauer A, Bouwmeester T, Casari G, Drewes G, Neubauer G, Rick JM, Kuster B, Bork P, Russell RB, Superti-Furga G.

    Nature. 2006 Mar 30;440(7084):631-6. Epub 2006 Jan 22.PMID: 16429126 [PubMed - indexed for MEDLINE]Related articles

    23.

    Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.

    Silvestri L, Caputo V, Bellacchio E, Atorino L, Dallapiccola B, Valente EM, Casari G.

    Hum Mol Genet. 2005 Nov 15;14(22):3477-92. Epub 2005 Oct 5.PMID: 16207731 [PubMed - indexed for MEDLINE]Related articlesFree article

    24.

    ATP1A2 mutations in 11 families with familial hemiplegic migraine.

    Riant F, De Fusco M, Aridon P, Ducros A, Ploton C, Marchelli F, Maciazek J, Bousser MG, Casari G, Tournier-Lasserve E.

    Hum Mutat. 2005 Sep;26(3):281.PMID: 16088919 [PubMed - indexed for MEDLINE]Related articles

    25.

    No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures.

    Martinelli Boneschi F, Aridon P, Zara F, Guerrini R, Marini C, De Fusco M, Comi G, Casari G.

    Neurosci Lett. 2005 Nov 11;388(2):71-4.PMID: 16026932 [PubMed - indexed for MEDLINE]Related articles

    26.

    AntiHunter 2.0: increased speed and sensitivity in searching BLAST output for EST antisense transcripts.

    Lavorgna G, Triunfo R, Santoni F, Orfanelli U, Noci S, Bulfone A, Zanetti G, Casari G.

    Nucleic Acids Res. 2005 Jul 1;33(Web Server issue):W665-8.PMID: 15980558 [PubMed - indexed for MEDLINE]Related articlesFree article

    27.

    From molecular networks to qualitative cell behavior.

    Gagneur J, Casari G.

    FEBS Lett. 2005 Mar 21;579(8):1867-71. Review.PMID: 15763565 [PubMed - indexed for MEDLINE]Related articles

    28.

    Uromodulin storage diseases: clinical aspects and mechanisms.

    Scolari F, Caridi G, Rampoldi L, Tardanico R, Izzi C, Pirulli D, Amoroso A, Casari G, Ghiggeri GM.

    Am J Kidney Dis. 2004 Dec;44(6):987-99. Review.PMID: 15558519 [PubMed - indexed for MEDLINE]Related articles

    29.

    Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.

    Gambaro G, Vezzoli G, Casari G, Rampoldi L, D'Angelo A, Borghi L.

    Am J Kidney Dis. 2004 Dec;44(6):963-86. Review.PMID: 15558518 [PubMed - indexed for MEDLINE]Related articles

    30.

    Elusive amines and cluster headache: mutational analysis of trace amine receptor cluster on chromosome 6q23.

    Aridon P, D'Andrea G, Rigamonti A, Leone M, Casari G, Bussone G.

    Neurol Sci. 2004 Oct;25 Suppl 3:S279-80.PMID: 15549560 [PubMed - indexed for MEDLINE]Related articles

    31.

    Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation.

    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.

    Arch Neurol. 2004 Aug;61(8):1314-20.PMID: 15313853 [PubMed - indexed for MEDLINE]Related articlesFree article

    32.

    Modular decomposition of protein-protein interaction networks.

    Gagneur J, Krause R, Bouwmeester T, Casari G.

    Genome Biol. 2004;5(8):R57. Epub 2004 Jul 21.PMID: 15287979 [PubMed - indexed for MEDLINE]Related articlesFree article

    33.

    A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.

    Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, Zucca C, Bersano A, Dolcetta D, Boneschi FM, Barone V, Casari G.

    J Med Genet. 2004 Aug;41(8):621-8. No abstract available. PMID: 15286158 [PubMed - indexed for MEDLINE]Related articlesFree article

    34.

    Genetics in restless legs syndrome.

    Ferini-Strambi L, Bonati MT, Oldani A, Aridon P, Zucconi M, Casari G.

    Sleep Med. 2004 May;5(3):301-4. Review.PMID: 15165539 [PubMed - indexed for MEDLINE]Related articles

    35.

    In search of antisense.

    Lavorgna G, Dahary D, Lehner B, Sorek R, Sanderson CM, Casari G.

    Trends Biochem Sci. 2004 Feb;29(2):88-94. Review.PMID: 15102435 [PubMed - indexed for MEDLINE]Related articles

    36.

    AntiHunter: searching BLAST output for EST antisense transcripts.

    Lavorgna G, Sessa L, Guffanti A, Lassandro L, Casari G.

    Bioinformatics. 2004 Mar 1;20(4):583-5. Epub 2004 Jan 22.PMID: 14990456 [PubMed - indexed for MEDLINE]Related articlesFree article

    37.

    A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway.

    Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K, Cruciat C, Eberhard D, Gagneur J, Ghidelli S, Hopf C, Huhse B, Mangano R, Michon AM, Schirle M, Schlegl J, Schwab M, Stein MA, Bauer A, Casari G, Drewes G, Gavin AC, Jackson DB, Joberty G, Neubauer G, Rick J, Kuster B, Superti-Furga G.

    Nat Cell Biol. 2004 Feb;6(2):97-105. Epub 2004 Jan 25. Erratum in: Nat Cell Biol. 2004 May;6(5):465. PMID: 14743216 [PubMed - indexed for MEDLINE]Related articles

    38.

    A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2.

    Striano P, Chifari R, Striano S, de Fusco M, Elia M, Guerrini R, Casari G, Canevini MP.

    Epilepsia. 2004 Feb;45(2):190-2.PMID: 14738428 [PubMed - indexed for MEDLINE]Related articles

    39.

    Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport.

    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.

    J Clin Invest. 2004 Jan;113(2):231-42.PMID: 14722615 [PubMed - indexed for MEDLINE]Related articlesFree article

    40.

    Automatic extraction of mutations from Medline and cross-validation with OMIM.

    Rebholz-Schuhmann D, Marcel S, Albert S, Tolle R, Casari G, Kirsch H.

    Nucleic Acids Res. 2004 Jan 2;32(1):135-42. Print 2004.PMID: 14704350 [PubMed - indexed for MEDLINE]Related articlesFree article

    41.

    Intergenerational instability and marked anticipation in SCA-17.

    Maltecca F, Filla A, Castaldo I, Coppola G, Fragassi NA, Carella M, Bruni A, Cocozza S, Casari G, Servadio A, De Michele G.

    Neurology. 2003 Nov 25;61(10):1441-3.PMID: 14638975 [PubMed - indexed for MEDLINE]Related articles

    42.

    Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.

    Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G.

    J Cell Biol. 2003 Nov 24;163(4):777-87. Epub 2003 Nov 17.PMID: 14623864 [PubMed - indexed for MEDLINE]Related articlesFree article

    43.

    Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.

    De Michele G, Maltecca F, Carella M, Volpe G, Orio M, De Falco A, Gombia S, Servadio A, Casari G, Filla A, Bruni A.

    Neurol Sci. 2003 Oct;24(3):166-7.PMID: 14598069 [PubMed - indexed for MEDLINE]Related articles

    44.

    Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

    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.

    Hum Mol Genet. 2003 Dec 15;12(24):3369-84. Epub 2003 Oct 21.PMID: 14570709 [PubMed - indexed for MEDLINE]Related articlesFree article

    45.

    The genetic and molecular basis of epilepsy.

    Guerrini R, Casari G, Marini C.

    Trends Mol Med. 2003 Jul;9(7):300-6. Review.PMID: 12900217 [PubMed - indexed for MEDLINE]Related articles

    46.

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

    Casari G, Amoroso A.

    J Nephrol. 2003 May-Jun;16(3):459. No abstract available. PMID: 12839032 [PubMed - indexed for MEDLINE]Related articles

    47.

    Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease.

    Scolari F, Viola BF, Ghiggeri GM, Caridi G, Amoroso A, Rampoldi L, Casari G.

    J Nephrol. 2003 May-Jun;16(3):321-8. Review.PMID: 12832729 [PubMed - indexed for MEDLINE]Related articles

    48.

    Alternative splicing of NHE-1 mediates Na-Li countertransport and associates with activity rate.

    Zerbini G, Maestroni A, Breviario D, Mangili R, Casari G.

    Diabetes. 2003 Jun;52(6):1511-8.PMID: 12765964 [PubMed - indexed for MEDLINE]Related articlesFree article

    49.

    Autosomal dominant restless legs syndrome maps on chromosome 14q.

    Bonati MT, Ferini-Strambi L, Aridon P, Oldani A, Zucconi M, Casari G.

    Brain. 2003 Jun;126(Pt 6):1485-92.PMID: 12764067 [PubMed - indexed for MEDLINE]Related articlesFree article

    50.

    Hierarchical analysis of dependency in metabolic networks.

    Gagneur J, Jackson DB, Casari G.

    Bioinformatics. 2003 May 22;19(8):1027-34.PMID: 12761067 [PubMed - indexed for MEDLINE]Related articlesFree article

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