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Papers authored by Goldwurm S

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GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling.

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Giovannone B, Tsiaras WG, de la Monte S, Klysik J, Lautier C, Karashchuk G, Goldwurm S, and Smith RJ

Human molecular genetics 18(23):4629-39, 2009 Dec 1 - Who cited this? | PubMed ID: 19744960 | Fulltext

SNCA variants are associated with increased risk for multiple system atrophy.

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Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, Arepalli S,

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Annals of neurology 65(5):610-4, 2009 May - Who cited this? | PubMed ID: 19475667 | Fulltext

Screening for the presence of FMR1 premutation alleles in women with parkinsonism.

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Cilia R, Kraff J, Canesi M, Pezzoli G, Goldwurm S, Amiri K, Tang HT, Pan R, Hagerman PJ, and Tassone F

Archives of neurology 66(2):244-9, 2009 Feb - Who cited this? | PubMed ID: 19204162 | Fulltext

Genomewide association study for onset age in Parkinson disease.

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Latourelle JC, Pankratz N, Dumitriu A, Wilk JB, Goldwurm S, Pezzoli G, Mariani CB, DeStefano AL, Halter C, Gusella JF, Nichols WC, Myers RH, Foroud T, PROGENI Investigators, Coordinators and Molecular Genetic Laboratories, and GenePD Investigators, Coordinators and Molecular Genetic Laboratories

BMC medical genetics 10:98, 2009 - Who cited this? | PubMed ID: 19772629 | Fulltext

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.

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McNicoll CF, Latourelle JC, MacDonald ME, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA,

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Movement disorders : official journal of the Movement Disorder Society 23(11):1596-601, 2008 Aug 15 - Who cited this? | PubMed ID: 18649400 | Fulltext

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.

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Healy DG, Falchi M, O'Sullivan SS, Bonifati V, Durr A, Bressman S, Brice A, Aasly J, Zabetian CP, Goldwurm S, Ferreira JJ, Tolosa E, Kay DM, Klein C, Williams DR, Marras C,

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Lancet neurology 7(7):583, 2008 Jul - Who cited this? | PubMed ID: 18539534 | Fulltext

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.

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Tobin JE, Latourelle JC, Lew MF, Klein C, Suchowersky O, Shill HA, Golbe LI, Mark MH, Growdon JH, Wooten GF, Racette BA, Perlmutter JS, Watts R, Guttman M, Baker KB, Goldwurm S,

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Neurology 71(1):28-34, 2008 Jul 1 - Who cited this? | PubMed ID: 18509094 | Fulltext

HFE gene mutations in a population of Italian Parkinson's disease patients.

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Biasiotto G, Goldwurm S, Finazzi D, Tunesi S, Zecchinelli A, Sironi F, Pezzoli G, and Arosio P

Parkinsonism & related disorders 14(5):426-30, 2008 Jul - Who cited this? | PubMed ID: 18325820 | Fulltext

Replication of association between ELAVL4 and Parkinson disease: the GenePD study.

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Destefano AL, Latourelle J, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts R, Guttman M, Racette BA, Perlmutter JS, Marlor L, Shill HA, Singer C,

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Human genetics, 2008 Jun 29 - Who cited this? | PubMed ID: 18587682 | Fulltext

Parkin analysis in early onset Parkinson's disease.

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Sironi F, Primignani P, Zini M, Tunesi S, Ruffmann C, Ricca S, Brambilla T, Antonini A, Tesei S, Canesi M, Zecchinelli A, Mariani C, Meucci N, Sacilotto G, Cilia R, Isaias IU,

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Parkinsonism & related disorders 14(4):326-33, 2008 May - Who cited this? | PubMed ID: 18519021 | Fulltext

A voxel-based PET study of dopamine transporters in Parkinson's disease: Relevance of age at onset.

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Panzacchi A, Moresco RM, Garibotto V, Antonini A, Gobbo C, Isaias IU, Goldwurm S, Bonaldi L, Carpinelli A, Pezzoli G, Fazio F, and Perani D

Neurobiology of disease, 2008 Apr 20 - Who cited this? | PubMed ID: 18502656 | Fulltext

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.

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Haugarvoll K, Rademakers R, Kachergus JM, Nuytemans K, Ross OA, Gibson JM, Tan EK, Gaig C, Tolosa E, Goldwurm S, Guidi M, Riboldazzi G, Brown L, Walter U, Benecke R, Berg D,

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Neurology 70(16 Pt 2):1456, 2008 Apr 15 - Who cited this? | PubMed ID: 18337586 | Fulltext

Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.

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Lautier C, Goldwurm S, Dürr A, Giovannone B, Tsiaras WG, Pezzoli G, Brice A, and Smith RJ

American journal of human genetics 82(4):822-33, 2008 Apr - Who cited this? | PubMed ID: 18358451 | Fulltext

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.

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Latourelle JC, Sun M, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C,

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BMC medicine 6:32, 2008 - Who cited this? | PubMed ID: 18986508 | Fulltext

Screen for excess FMR1 premutation alleles among males with parkinsonism.

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Kraff J, Tang HT, Cilia R, Canesi M, Pezzoli G, Goldwurm S, Hagerman PJ, and Tassone F

Archives of neurology 64(7):1002-6, 2007 Jul - Who cited this? | PubMed ID: 17620491 | Fulltext

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.

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Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, Horstink MW, Montagna P, Libera AD, Stocchi F,

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Neurology 68(19):1557-62, 2007 May 8 - Who cited this? | PubMed ID: 17485642 | Fulltext

Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease.

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Goldwurm S, Zini M, Mariani L, Tesei S, Miceli R, Sironi F, Clementi M, Bonifati V, and Pezzoli G

Neurology 68(14):1141-3, 2007 Apr 3 - Who cited this? | PubMed ID: 17215492 | Fulltext

Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.

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Grünewald A, Breedveld GJ, Lohmann-Hedrich K, Rohé CF, König IR, Hagenah J, Vanacore N, Meco G, Antonini A, Goldwurm S, Lesage S, Dürr A, Binkofski F, Siebner H, Münchau A, Brice A,

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Neurogenetics 8(2):103, 2007 Apr - Who cited this? | PubMed ID: 17219214 | Fulltext

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.

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Marongiu R, Brancati F, Antonini A, Ialongo T, Ceccarini C, Scarciolla O, Capalbo A, Benti R, Pezzoli G, Dallapiccola B, Goldwurm S, and Valente EM

Human mutation 28(1):98, 2007 Jan - Who cited this? | PubMed ID: 17154281 | Fulltext

Analysis of ferritin genes in Parkinson disease.

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Foglieni B, Ferrari F, Goldwurm S, Santambrogio P, Castiglioni E, Sessa M, Antonietta Volontè M, Lalli S, Galli C, Wang XS, Connor J, Sironi F, Canesi M, Biasiotto G, Pezzoli G, Levi S,

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Clinical chemistry and laboratory medicine : CCLM / FESCC 45(11):1450-6, 2007 - Who cited this? | PubMed ID: 17970701 | Fulltext

Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study.

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Wilk JB, Tobin JE, Suchowersky O, Shill HA, Klein C, Wooten GF, Lew MF, Mark MH, Guttman M, Watts RL, Singer C, Growdon JH, Latourelle JC, Saint-Hilaire MH, DeStefano AL, Prakash R,

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Neurology 67(12):2206-10, 2006 Dec 26 - Who cited this? | PubMed ID: 17190945 | Fulltext

LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample.

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Goldwurm S, Zini M, Di Fonzo A, De Gaspari D, Siri C, Simons EJ, van Doeselaar M, Tesei S, Antonini A, Canesi M, Zecchinelli A, Mariani C, Meucci N, Sacilotto G, Cilia R, Isaias IU,

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Parkinsonism & related disorders 12(7):410-9, 2006 Oct - Who cited this? | PubMed ID: 16750929 | Fulltext

Striatal dopamine transporter binding in Parkinson's disease associated with the LRRK2 Gly2019Ser mutation.

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Isaias IU, Benti R, Goldwurm S, Zini M, Cilia R, Gerundini P, Di Fonzo A, Bonifati V, Pezzoli G, and Antonini A

Movement disorders : official journal of the Movement Disorder Society 21(8):1144-7, 2006 Aug - Who cited this? | PubMed ID: 16671078 | Fulltext

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.

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Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH,

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Archives of neurology 63(6):826-32, 2006 Jun - Who cited this? | PubMed ID: 16769863 | Fulltext

Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration.

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Antonini A, Goldwurm S, Benti R, Prokisch H, Ebhardt M, Cilia R, Zini M, Righini A, Cossu G, and Pezzoli G

Movement disorders : official journal of the Movement Disorder Society 21(3):417, 2006 Mar - Who cited this? | PubMed ID: 16267847 | Fulltext

Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.

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Di Fonzo A, Tassorelli C, De Mari M, Chien HF, Ferreira J, Rohé CF, Riboldazzi G, Antonini A, Albani G, Mauro A, Marconi R, Abbruzzese G, Lopiano L, Fincati E, Guidi M, Marini P,

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European journal of human genetics : EJHG 14(3):322-31, 2006 Mar - Who cited this? | PubMed ID: 16333314 | Fulltext

Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers.

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Ceravolo R, Antonini A, Volterrani D, Rossi C, Goldwurm S, Di Maria E, Kiferle L, Bonuccelli U, and Murri L

Neurology 65(12):1971, 2005 Dec 27 - Who cited this? | PubMed ID: 16380622 | Fulltext

BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study.

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Karamohamed S, Latourelle JC, Racette BA, Perlmutter JS, Wooten GF, Lew M, Klein C, Shill H, Golbe LI, Mark MH, Guttman M, Nicholson G, Wilk JB, Saint-Hilaire M, DeStefano AL, Prakash R,

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Neurology 65(11):1823-5, 2005 Dec 13 - Who cited this? | PubMed ID: 16344533 | Fulltext

The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor.

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Goldwurm S, Di Fonzo A, Simons EJ, Rohé CF, Zini M, Canesi M, Tesei S, Zecchinelli A, Antonini A, Mariani C, Meucci N, Sacilotto G, Sironi F, Salani G, Ferreira J, Chien HF,

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Journal of medical genetics 42(11):e65, 2005 Nov - Who cited this? | PubMed ID: 16272257 | Fulltext

Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

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Bonifati V, Rohé CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, Tavella A, Marconi R, Nicholl DJ, Chien HF, Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink MW, Maat-Kievit JA,

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Neurology 65(1):87-95, 2005 Jul 12 - Who cited this? | PubMed ID: 16009891 | Fulltext

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

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Ghezzi D, Marelli C, Achilli A, Goldwurm S, Pezzoli G, Barone P, Pellecchia MT, Stanzione P, Brusa L, Bentivoglio AR, Bonuccelli U, Petrozzi L, Abbruzzese G, Marchese R, Cortelli P, Grimaldi D,

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European journal of human genetics : EJHG 13(6):748, 2005 Jun - Who cited this? | PubMed ID: 15827561 | Fulltext

A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.

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Di Fonzo A, Rohé CF, Ferreira J, Chien HF, Vacca L, Stocchi F, Guedes L, Fabrizio E, Manfredi M, Vanacore N, Goldwurm S, Breedveld G, Sampaio C, Meco G, Barbosa E, Oostra BA,

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Lancet 365(9457):412-5, 2005 - Who cited this? | PubMed ID: 15680456 | Fulltext

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.

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Venturi N, Rovelli A, Parini R, Menni F, Brambillasca F, Bertagnolio F, Uziel G, Gatti R, Filocamo M, Donati MA, Biondi A, and Goldwurm S

Human mutation 20(3):231, 2002 Sep - Who cited this? | PubMed ID: 12203999 | Fulltext

Case of congenital hypotransferrinemia suggests that tissue hypoxia during fetal development may cause hypospadias.

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Goldwurm S and Biondi A

American journal of medical genetics 95(3):287-90, 2000 Nov 27 - Who cited this? | PubMed ID: 11102938 | Fulltext

Biochemical and genetic defects underlying human congenital hypotransferrinemia.

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Goldwurm S, Casati C, Venturi N, Strada S, Santambrogio P, Indraccolo S, Arosio P, Cazzola M, Piperno A, Masera G, and Biondi A

The hematology journal : the official journal of the European Haematology Association / EHA 1(6):390-8, 2000 - Who cited this? | PubMed ID: 11920219 | Fulltext

The spinal muscular atrophy gene region at 5q13.1 has a paralogous chromosomal region at 6p21.3.

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Banyer JL, Goldwurm S, Cullen L, van der Griend B, Zournazi A, Smit DJ, Powell LW, and Jazwinska EC

Mammalian genome : official journal of the International Mammalian Genome Society 9(3):235-9, 1998 Mar - Who cited this? | PubMed ID: 9501309 | Fulltext

Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis.

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George DK, Goldwurm S, MacDonald GA, Cowley LL, Walker NI, Ward PJ, Jazwinska EC, and Powell LW

Gastroenterology 114(2):311-8, 1998 Feb - Who cited this? | PubMed ID: 9453491 | Fulltext

Generation of a transcription map distal to HLA-F.

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Goldwurm S, Van der Griend BF, Banyer JL, Cullen LM, Zournazi A, Menzies ML, Busfield F, Little PF, and Jazwinska EC

European journal of human genetics : EJHG 6(5):475-86, 1998 - Who cited this? | PubMed ID: 9801872 | Fulltext

Haemochromatosis after the discovery of HFE ("HLA-H").

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Goldwurm S and Powell LW

Gut 41(6):855-6, 1997 Dec - Who cited this? | PubMed ID: 9462224 | Fulltext

Identification of a novel Krueppel-related zinc finger gene (ZNF184) mapping to 6p21.3.

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Goldwurm S, Menzies ML, Banyer JL, Powell LW, and Jazwinska EC

Genomics 40(3):486-9, 1997 Mar 15 - Who cited this? | PubMed ID: 9073517 | Fulltext

Isolation and characterisation of cosmids to intervals within a 4.5Mb region at 6p21.3.

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Jazwinska EC, Cullen LM, Zournazi A, Burt MJ, Van Der Griend B, Goldwurm S, and Little PF

DNA sequence : the journal of DNA sequencing and mapping 8(3):147-50, 1997 - Who cited this? | PubMed ID: 10668959 | Fulltext

Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis.

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Jazwinska EC, Pyper WR, Burt MJ, Francis JL, Goldwurm S, Webb SI, Lee SC, Halliday JW, and Powell LW

American journal of human genetics 56(2):428-33, 1995 Feb - Who cited this? | PubMed ID: 7847378 | Fulltext

Molybdenum(VI) salts convert the xanthine oxidoreductase apoprotein into the active enzyme in mouse L929 fibroblastic cells.

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Falciani F, Terao M, Goldwurm S, Ronchi A, Gatti A, Minoia C, Li Calzi M, Salmona M, Cazzaniga G, and Garattini E

The Biochemical journal 298 ( Pt 1):69-77, 1994 Feb 15 - Who cited this? | PubMed ID: 8129733 | Fulltext

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