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Refinado por: data de publicação: 2016Até2020 remover assunto: Humans remover
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Recessive mutations in >VPS13D cause childhood onset movement disorders
Recessive mutations in >VPS13D cause childhood onset movement disorders
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Recessive mutations in >VPS13D cause childhood onset movement disorders

Gauthier, Julie ; Meijer, Inge A. ; Lessel, Davor ; Mencacci, Niccolò E. ; Krainc, Dimitri ; Hempel, Maja ; Tsiakas, Konstantinos ; Prokisch, Holger ; Rossignol, Elsa ; Helm, Margaret H. ; Rodan, Lance H. ; Karamchandani, Jason ; Carecchio, Miryam ; Lubbe, Steven J. ; Telegrafi, Aida ; Henderson, Lindsay B. ; Lorenzo, Kerry ; Wallace, Stephanie E. ; Glass, Ian A. ; Hamdan, Fadi F. ; Michaud, Jacques L. ; Rouleau, Guy A. ; Campeau, Philippe M.

Annals of neurology, 2018-06, Vol.83 (6), p.1089-1095 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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2
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study
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Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study

Carecchio, Miryam ; Invernizzi, Federica ; Gonzàlez‐Latapi, Paulina ; Panteghini, Celeste ; Zorzi, Giovanna ; Romito, Luigi ; Leuzzi, Vincenzo ; Galosi, Serena ; Reale, Chiara ; Zibordi, Federica ; Joseph, Agnel P. ; Topf, Maya ; Piano, Carla ; Bentivoglio, Anna Rita ; Girotti, Floriano ; Morana, Paolo ; Morana, Benedetto ; Kurian, Manju A. ; Garavaglia, Barbara ; Mencacci, Niccolò E. ; Lubbe, Steven J. ; Nardocci, Nardo

Movement disorders, 2019-10, Vol.34 (10), p.1516-1527 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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3
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
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Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Steel, Dora ; Zech, Michael ; Zhao, Chen ; Barwick, Katy E. S. ; Burke, Derek ; Demailly, Diane ; Kumar, Kishore R. ; Zorzi, Giovanna ; Nardocci, Nardo ; Kaiyrzhanov, Rauan ; Wagner, Matias ; Iuso, Arcangela ; Berutti, Riccardo ; Škorvánek, Matej ; Necpál, Ján ; Davis, Ryan ; Wiethoff, Sarah ; Mankad, Kshitij ; Sudhakar, Sniya ; Ferrini, Arianna ; Sharma, Suvasini ; Kamsteeg, Erik‐Jan ; Tijssen, Marina A. ; Verschuuren, Corien ; Egmond, Martje E. ; Flowers, Joanna M. ; McEntagart, Meriel ; Tucci, Arianna ; Coubes, Philippe ; Bustos, Bernabe I. ; Gonzalez‐Latapi, Paulina ; Tisch, Stephen ; Darveniza, Paul ; Gorman, Kathleen M. ; Peall, Kathryn J. ; Bötzel, Kai ; Koch, Jan C. ; Kmieć, Tomasz ; Plecko, Barbara ; Boesch, Sylvia ; Haslinger, Bernhard ; Jech, Robert ; Garavaglia, Barbara ; Wood, Nick ; Houlden, Henry ; Gissen, Paul ; Lubbe, Steven J. ; Sue, Carolyn M. ; Cif, Laura ; Mencacci, Niccolò E. ; Anderson, Glenn ; Kurian, Manju A. ; Winkelmann, Juliane

Annals of neurology, 2020-11, Vol.88 (5), p.867-877 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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4
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing
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Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

Jansen, Iris E ; Ye, Hui ; Heetveld, Sasja ; Lechler, Marie C ; Michels, Helen ; Seinstra, Renée I ; Lubbe, Steven J ; Drouet, Valérie ; Lesage, Suzanne ; Majounie, Elisa ; Gibbs, J Raphael ; Nalls, Mike A ; Ryten, Mina ; Botia, Juan A ; Vandrovcova, Jana ; Simon-Sanchez, Javier ; Castillo-Lizardo, Melissa ; Rizzu, Patrizia ; Blauwendraat, Cornelis ; Chouhan, Amit K ; Li, Yarong ; Yogi, Puja ; Amin, Najaf ; van Duijn, Cornelia M ; Morris, Huw R ; Brice, Alexis ; Singleton, Andrew B ; David, Della C ; Nollen, Ellen A ; Jain, Shushant ; Shulman, Joshua M ; Heutink, Peter

Genome Biology, 2017-01, Vol.18 (1), p.22-22, Article 22 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance
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Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

Lubbe, Steven J ; Escott-Price, Valentina ; Gibbs, J Raphael ; Nalls, Mike A ; Bras, Jose ; Price, T Ryan ; Nicolas, Aude ; Jansen, Iris E ; Mok, Kin Y ; Pittman, Alan M ; Tomkins, James E ; Lewis, Patrick A ; Noyce, Alastair J ; Lesage, Suzanne ; Sharma, Manu ; Schiff, Elena R ; Levine, Adam P ; Brice, Alexis ; Gasser, Thomas ; Hardy, John ; Heutink, Peter ; Wood, Nicholas W ; Singleton, Andrew B ; Williams, Nigel M ; Morris, Huw R

Human molecular genetics, 2016-12, Vol.25 (24), p.5483-5489 [Periódico revisado por pares]

England: Oxford University Press

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6
A PDE10A de novo mutation causes childhood‐onset chorea with diurnal fluctuations
A PDE10A de novo mutation causes childhood‐onset chorea with diurnal fluctuations
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A PDE10A de novo mutation causes childhood‐onset chorea with diurnal fluctuations

Esposito, Silvia ; Carecchio, Miryam ; Tonduti, Davide ; Saletti, Veronica ; Panteghini, Celeste ; Chiapparini, Luisa ; Zorzi, Giovanna ; Pantaleoni, Chiara ; Garavaglia, Barbara ; Krainc, Dimitri ; Lubbe, Steven J. ; Nardocci, Nardo ; Mencacci, Niccolò E.

Movement disorders, 2017-11, Vol.32 (11), p.1646-1647 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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7
Early Onset Parkinson's Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report
Early Onset Parkinson's Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report
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Early Onset Parkinson's Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report

Norman, Brendan P ; Lubbe, Steven J ; Tan, Manuela ; Warren, Naomi ; Morris, Huw R

BMC neurology, 2017-08, Vol.17 (1), p.153-153, Article 153 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Is the MC1R variant p.R160W associated with Parkinson's?
Is the MC1R variant p.R160W associated with Parkinson's?
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Is the MC1R variant p.R160W associated with Parkinson's?

Lubbe, Steven J. ; Escott-Price, Valentina ; Brice, Alexis ; Gasser, Thomas ; Hardy, John ; Heutink, Peter ; Sharma, Manu ; Wood, Nicholas W. ; Nalls, Mike ; Singleton, Andrew B. ; Williams, Nigel M. ; Morris, Huw R.

Annals of neurology, 2016-01, Vol.79 (1), p.159-161 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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9
A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders
A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders
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A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders

Lamb, Ruth ; Rohrer, Jonathan D ; Real, Raquel ; Lubbe, Steven J ; Waite, Adrian J ; Blake, Derek J ; Walters, R Jon ; Lashley, Tammaryn ; Revesz, Tamas ; Holton, Janice L ; Morris, Huw R

Cold Spring Harbor molecular case studies, 2019-06, Vol.5 (3), p.a003913 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

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10
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
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Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Vallerga, Costanza L ; Tan, Manuela ; Kia, Demis A ; Xue, Angli ; Young, Emily ; Sharma, Manu ; Krohn, Lynne ; Siitonen, Ari ; Iwaki, Hirotaka ; Leonard, Hampton ; Botia, Juan A ; Martinez, Maria ; Jankovic, Joseph ; Sutherland, Margaret ; Majamaa, Kari ; Andreassen, Ole A ; Gan-Or, Ziv ; Gasser, Thomas ; Heutink, Peter ; Gratten, Jacob ; Alvarez, Ignacio ; Alvarez, Victoria ; Bandres-Ciga, Sara ; Bergareche Yarza, Jesús Alberto ; Billingsley, Kimberley ; Bonilla-Toribio, Marta ; Botía, Juan A ; Boungiorno, María Teresa ; Bras, Jose ; Bubb, Vivien ; Buiza-Rueda, Dolores ; Cerdan, Debora ; Chelban, Viorica ; Corvol, Jean-Christophe ; Craig, David W ; Danjou, Fabrice ; Diez-Fairen, Monica ; Escott-Price, Valentina ; Ezquerra, Mario ; Fernández, Manel ; Fernández-Santiago, Rubén ; Gan-Or, Ziv ; Garcia, Ciara ; García-Ruiz, Pedro ; Hernandez, Dena G ; Hoenicka, Janet ; Infante, Jon ; Jesús, Silvia ; Kaiyrzhanov, Rauan ; Kia, Demis A ; Leonard, Hampton L ; Lewis, Patrick ; Lopez-Sendon, Jose Luis ; Lovering, Ruth ; Lubbe, Steven ; Majamaa, Kari ; Manzoni, Claudia ; Marti, Maria Jose ; Méndez-del-Barrio, Carlota ; Middlehurst, Ben ; Mínguez, Adolfo ; Muñoz, Esteban ; Pagola, Ana Gorostidi ; Pastor, Pau ; Perez Errazquin, Francisco ; Periñán-Tocino, Teresa ; Reed, Xylena ; Rezola, Elisabet Mondragon ; Rodriguez, Antonio Sanchez ; Ruiz-Martínez, Javier ; Sadykova, Dinara ; Shashkin, Chingiz ; Sierra, María ; Simón-Sánchez, Javier ; Singleton, Andrew B ; Suarez-Sanmartin, Esther ; Tabernero, Cesar ; Tolosa, Eduard ; van Hilten, Jacobus J ; Vargas-González, Laura ; Wood, Nicholas W ; Zimprich, Alexander ; Reich, Stephen ; Savitt, Joseph ; Bryc, Katarzyna ; Hicks, Barry ; Jiang, Yunxuan ; McCreight, Jennifer C. ; McIntyre, Matthew H. ; Noblin, Elizabeth S. ; Sathirapongsasuti, J. Fah ; Tung, Joyce ; Anderson, Tim ; Bentley, Steven ; Kennedy, Martin ; Mellick, George ; Sidorenko, Julia ; Silburn, Peter A. ; Visscher, Peter M. ; Yang, Jian

Lancet neurology, 2019-12, Vol.18 (12), p.1091-1102 [Periódico revisado por pares]

England: Elsevier Ltd

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