Works matching AU Goldwurm, Stefano

Results: 40
    1

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

    Published in:
    Neurogenetics, 2007, v. 8, n. 2, p. 103, doi. 10.1007/s10048-006-0072-y
    By:
    • Grünewald, Anne;
    • Breedveld, Guido;
    • Lohmann-Hedrich, Katja;
    • Rohé, Christan;
    • König, Inke;
    • Hagenah, Johann;
    • Vanacore, Nicola;
    • Meco, Giuseppe;
    • Antonini, Angelo;
    • Goldwurm, Stefano;
    • Lesage, Suzanne;
    • Dürr, Alexandra;
    • Binkofski, Ferdinand;
    • Siebner, Hartwig;
    • Münchau, Alexander;
    • Brice, Alexis;
    • Oostra, Ben;
    • Klein, Christine;
    • Bonifati, Vincenzo
    Publication type:
    Article
    2

    A human minisatellite hosts an alternative transcription start site for NPRL3 driving its expression in a repeat number‐dependent manner.

    Published in:
    Human Mutation, 2020, v. 41, n. 4, p. 807, doi. 10.1002/humu.23974
    By:
    • Bertuzzi, Maria;
    • Tang, Dave;
    • Calligaris, Raffaella;
    • Vlachouli, Christina;
    • Finaurini, Sara;
    • Sanges, Remo;
    • Goldwurm, Stefano;
    • Catalan, Mauro;
    • Antonutti, Lucia;
    • Manganotti, Paolo;
    • Pizzolato, Gilberto;
    • Pezzoli, Gianni;
    • Persichetti, Francesca;
    • Carninci, Piero;
    • Gustincich, Stefano
    Publication type:
    Article
    3

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

    Published in:
    Human Mutation, 2007, v. 28, n. 1, p. 98, doi. 10.1002/humu.9472
    By:
    • Marongiu, Roberta;
    • Brancati, Francesco;
    • Antonini, Angelo;
    • Ialongo, Tamara;
    • Ceccarini, Caterina;
    • Scarciolla, Oronzo;
    • Capalbo, Anna;
    • Benti, Riccardo;
    • Pezzoli, Gianni;
    • Dallapiccola, Bruno;
    • Goldwurm, Stefano;
    • Valente, Enza Maria
    Publication type:
    Article
    4

    Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.

    Published in:
    JAMA Neurology, 2018, v. 75, n. 11, p. 1416, doi. 10.1001/jamaneurol.2018.1885
    By:
    • Blauwendraat, Cornelis;
    • Reed, Xylena;
    • Kia, Demis A.;
    • Gan-Or, Ziv;
    • Lesage, Suzanne;
    • Pihlstrøm, Lasse;
    • Guerreiro, Rita;
    • Gibbs, J. Raphael;
    • Sabir, Marya;
    • Ahmed, Sarah;
    • Ding, Jinhui;
    • Alcalay, Roy N.;
    • Hassin-Baer, Sharon;
    • Pittman, Alan M.;
    • Brooks, Janet;
    • Edsall, Connor;
    • Hernandez, Dena G.;
    • Chung, Sun Ju;
    • Goldwurm, Stefano;
    • Toft, Mathias
    Publication type:
    Article
    5

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

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 6, p. 748, doi. 10.1038/sj.ejhg.5201425
    By:
    • Ghezzi, Daniele;
    • Marelli, Cecilia;
    • Achilli, Alessandro;
    • Goldwurm, Stefano;
    • Pezzoli, Gianni;
    • Barone, Paolo;
    • Pellecchia, Maria Teresa;
    • Stanzione, Paolo;
    • Brusa, Livia;
    • Bentivoglio, Anna Rita;
    • Bonuccelli, Ubaldo;
    • Petrozzi, Lucia;
    • Abbruzzese, Giovanni;
    • Marchese, Roberta;
    • Cortelli, Pietro;
    • Grimaldi, Daniela;
    • Martinelli, Paolo;
    • Ferrarese, Carlo;
    • Garavaglia, Barbara;
    • Sangiorgi, Simonetta
    Publication type:
    Article
    6

    Generation of a transcription map distal to HLA-F.

    Published in:
    European Journal of Human Genetics, 1998, v. 6, n. 5, p. 475, doi. 10.1038/sj.ejhg.5200211
    By:
    • Goldwurm, Stefano;
    • Van der Griend, Benjamin FH;
    • Banyer, Joanne L;
    • Cullen, Lara M;
    • Zournazi, Anna;
    • Menzies, Moira L;
    • Busfield, Frances;
    • Little, Peter FR;
    • Jazwinska, Elizabeth C
    Publication type:
    Article
    7

    Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

    Published in:
    Nature Genetics, 2011, v. 43, n. 7, p. 699, doi. 10.1038/ng.859
    By:
    • Höglinger, Günter U.;
    • Melhem, Nadine M.;
    • Dickson, Dennis W.;
    • Sleiman, Patrick M. A.;
    • Li-San Wang;
    • Klei, Lambertus;
    • Rademakers, Rosa;
    • de Silva, Rohan;
    • Litvan, Irene;
    • Riley, David E.;
    • van Swieten, John C.;
    • Heutink, Peter;
    • Wszolek, Zbigniew K.;
    • Uitti, Ryan J.;
    • Vandrovcova, Jana;
    • Hurtig, Howard I.;
    • Gross, Rachel G.;
    • Maetzler, Walter;
    • Goldwurm, Stefano;
    • Tolosa, Eduardo
    Publication type:
    Article
    8
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    Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry.

    Published in:
    2017
    By:
    • Lee, Annie J.;
    • Wang, Yuanjia;
    • Alcalay, Roy N.;
    • Mejia‐Santana, Helen;
    • Saunders‐Pullman, Rachel;
    • Bressman, Susan;
    • Corvol, Jean‐Christophe;
    • Brice, Alexis;
    • Lesage, Suzanne;
    • Mangone, Graziella;
    • Tolosa, Eduardo;
    • Pont‐Sunyer, Claustre;
    • Vilas, Dolores;
    • Schüle, Birgitt;
    • Kausar, Farah;
    • Foroud, Tatiana;
    • Berg, Daniela;
    • Brockmann, Kathrin;
    • Goldwurm, Stefano;
    • Siri, Chiara
    Publication type:
    journal article
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    Alpha-synuclein repeat variants and survival in Parkinson's disease.

    Published in:
    Movement Disorders, 2014, v. 29, n. 8, p. 1053, doi. 10.1002/mds.25841
    By:
    • Chung, Sun Ju;
    • Biernacka, Joanna M.;
    • Armasu, Sebastian M.;
    • Anderson, Kari;
    • Frigerio, Roberta;
    • Aasly, Jan O.;
    • Annesi, Grazia;
    • Bentivoglio, Anna Rita;
    • Brighina, Laura;
    • Chartier‐Harlin, Marie‐Christine;
    • Goldwurm, Stefano;
    • Hadjigeorgiou, Georgios;
    • Jasinska‐Myga, Barbara;
    • Jeon, Beom Seok;
    • Kim, Yun Joong;
    • Krüger, Rejko;
    • Lesage, Suzanne;
    • Markopoulou, Katerina;
    • Mellick, George;
    • Morrison, Karen E.
    Publication type:
    Article
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    Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.

    Published in:
    2021
    By:
    • Lai, Dongbing;
    • Alipanahi, Babak;
    • Fontanillas, Pierre;
    • Schwantes‐An, Tae‐Hwi;
    • Aasly, Jan;
    • Alcalay, Roy N.;
    • Beecham, Gary W.;
    • Berg, Daniela;
    • Bressman, Susan;
    • Brice, Alexis;
    • Brockman, Kathrin;
    • Clark, Lorraine;
    • Cookson, Mark;
    • Das, Sayantan;
    • Van Deerlin, Vivianna;
    • Follett, Jordan;
    • Farrer, Matthew J.;
    • Trinh, Joanne;
    • Gasser, Thomas;
    • Goldwurm, Stefano
    Publication type:
    journal article
    20

    DNAJC12 and dopa-responsive nonprogressive parkinsonism.

    Published in:
    2017
    By:
    • Straniero, Letizia;
    • Guella, Ilaria;
    • Cilia, Roberto;
    • Parkkinen, Laura;
    • Rimoldi, Valeria;
    • Young, Alexander;
    • Asselta, Rosanna;
    • Soldà, Giulia;
    • Sossi, Vesna;
    • Stoessl, A. Jon;
    • Priori, Alberto;
    • Nishioka, Kenya;
    • Hattori, Nobutaka;
    • Follett, Jordan;
    • Rajput, Alex;
    • Blau, Nenad;
    • Pezzoli, Gianni;
    • Farrer, Matthew J.;
    • Goldwurm, Stefano;
    • Rajput, Ali H.
    Publication type:
    journal article
    21

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

    Published in:
    Human Genetics, 2008, v. 124, n. 1, p. 95, doi. 10.1007/s00439-008-0526-4
    By:
    • DeStefano, Anita L.;
    • Latourelle, Jeanne;
    • Lew, Mark F.;
    • Suchowersky, Oksana;
    • Klein, Christine;
    • Golbe, Lawrence I.;
    • Mark, Margery H.;
    • Growdon, John H.;
    • Wooten, G. Frederick;
    • Watts, Ray;
    • Guttman, Mark;
    • Racette, Brad A.;
    • Perlmutter, Joel S.;
    • Marlor, Lynn;
    • Shill, Holly A.;
    • Singer, Carlos;
    • Goldwurm, Stefano;
    • Pezzoli, Gianni;
    • Saint-Hilaire, Marie H.;
    • Hendricks, Audrey E.
    Publication type:
    Article
    22

    The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.

    Published in:
    Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0527-7
    By:
    • Baldo, Chiara;
    • Casareto, Lorena;
    • Renieri, Alessandra;
    • Merla, Giuseppe;
    • Garavaglia, Barbara;
    • Goldwurm, Stefano;
    • Pegoraro, Elena;
    • Moggio, Maurizio;
    • Mora, Marina;
    • Politano, Luisa;
    • Sangiorgi, Luca;
    • Mazzotti, Raffaella;
    • Viotti, Valeria;
    • Meloni, Ilaria;
    • Pellico, Maria Teresa;
    • Barzaghi, Chiara;
    • Wang, Chiuhui Mary;
    • Monaco, Lucia;
    • Filocamo, Mirella
    Publication type:
    Article
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    Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene.

    Published in:
    Annals of Neurology, 2009, v. 66, n. 6, p. 792, doi. 10.1002/ana.21780
    By:
    • Elstner, Matthias;
    • Morris, Christopher M.;
    • Heim, Katharina;
    • Lichtner, Peter;
    • Bender, Andreas;
    • Mehta, Divya;
    • Schulte, Claudia;
    • Sharma, Manu;
    • Hudson, Gavin;
    • Goldwurm, Stefano;
    • Giovanetti, Alessandro;
    • Zeviani, Massimo;
    • Burn, David J.;
    • McKeith, Ian G.;
    • Perry, Robert H.;
    • Jaros, E.;
    • Krüger, Rejko;
    • Wichmann, H.-Erich;
    • Schreiber, Stefan;
    • Campbell, Harry
    Publication type:
    Article
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    The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.

    Published in:
    Frontiers in Molecular Neuroscience, 2018, p. 1, doi. 10.3389/fnmol.2018.00064
    By:
    • Perez Carrion, Maria;
    • Pischedda, Francesca;
    • Biosa, Alice;
    • Russo, Isabella;
    • Straniero, Letizia;
    • Civiero, Laura;
    • Guida, Marianna;
    • Gloeckner, Christian J.;
    • Ticozzi, Nicola;
    • Tiloca, Cinzia;
    • Mariani, Claudio;
    • Pezzoli, Gianni;
    • Duga, Stefano;
    • Pichler, Irene;
    • Pan, Lifeng;
    • Landers, John E.;
    • Greggio, Elisa;
    • Hess, Michael W.;
    • Goldwurm, Stefano;
    • Piccoli, Giovanni
    Publication type:
    Article
    31
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    Nonsteroidal Anti‐inflammatory Use and LRRK2 Parkinson's Disease Penetrance.

    Published in:
    Movement Disorders, 2020, v. 35, n. 10, p. 1755, doi. 10.1002/mds.28189
    By:
    • San Luciano, Marta;
    • Tanner, Caroline M.;
    • Meng, Cheryl;
    • Marras, Connie;
    • Goldman, Samuel M.;
    • Lang, Anthony E.;
    • Tolosa, Eduardo;
    • Schüle, Birgitt;
    • Langston, J. William;
    • Brice, Alexis;
    • Corvol, Jean‐Christophe;
    • Goldwurm, Stefano;
    • Klein, Christine;
    • Brockman, Simone;
    • Berg, Daniela;
    • Brockmann, Kathrin;
    • Ferreira, Joachim J.;
    • Tazir, Meriem;
    • Mellick, George D.;
    • Sue, Carolyn M.
    Publication type:
    Article
    33

    The Length of SNCA Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson's Disease.

    Published in:
    Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2018.00213
    By:
    • Corrado, Lucia;
    • De Marchi, Fabiola;
    • Tunesi, Sara;
    • Oggioni, Gaia Donata;
    • Carecchio, Miryam;
    • Magistrelli, Luca;
    • Tesei, Silvana;
    • Riboldazzi, Giulio;
    • Di Fonzo, Alessio;
    • Locci, Clarissa;
    • Trezzi, Ilaria;
    • Zangaglia, Roberta;
    • Cereda, Cristina;
    • D'Alfonso, Sandra;
    • Magnani, Corrado;
    • Comi, Giacomo P.;
    • Bono, Giorgio;
    • Pacchetti, Claudio;
    • Cantello, Roberto;
    • Goldwurm, Stefano
    Publication type:
    Article
    34

    Analysis of ferritin genes in Parkinson disease.

    Published in:
    Clinical Chemistry & Laboratory Medicine, 2007, v. 45, n. 11, p. 1450, doi. 10.1515/CCLM.2007.307
    By:
    • Foglieni, Barbara;
    • Ferrari, Francesca;
    • Goldwurm, Stefano;
    • Santambrogio, Paolo;
    • Castiglioni, Emanuela;
    • Sessa, Maria;
    • Volontè, Maria Antonietta;
    • Lalli, Stefania;
    • Galli, Carlo;
    • Xin-Sheng Wang;
    • Connor, James;
    • Sironi, Francesca;
    • Canesi, Margherita;
    • Biasiotto, Giorgio;
    • Pezzoli, Gianni;
    • Levi, Sonia;
    • Ferrari, Maurizio;
    • Arosio, Paolo;
    • Cremonesi, Laura
    Publication type:
    Article
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    Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene.

    Published in:
    Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. 1, doi. 10.1186/s40478-019-0863-7
    By:
    • Chumarina, Margarita;
    • Russ, Kaspar;
    • Azevedo, Carla;
    • Heuer, Andreas;
    • Pihl, Maria;
    • Collin, Anna;
    • Frostner, Eleonor Åsander;
    • Elmer, Eskil;
    • Hyttel, Poul;
    • Cappelletti, Graziella;
    • Zini, Michela;
    • Goldwurm, Stefano;
    • Roybon, Laurent
    Publication type:
    Article
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