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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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2
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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3
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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4
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
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NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Blauwendraat, Cornelis ; Faghri, Faraz ; Pihlstrom, Lasse ; Geiger, Joshua T ; Elbaz, Alexis ; Lesage, Suzanne ; Corvol, Jean-Christophe ; May, Patrick ; Nicolas, Aude ; Abramzon, Yevgeniya ; Murphy, Natalie A ; Gibbs, J. Raphael ; Ryten, Mina ; Ferrari, Raffaele ; Bras, Jose ; Guerreiro, Rita ; Williams, Julie ; Sims, Rebecca ; Lubbe, Steven ; Hernandez, Dena G ; Mok, Kin Y ; Robak, Laurie ; Campbell, Roy H ; Rogaeva, Ekaterina ; Traynor, Bryan J ; Chia, Ruth ; Chung, Sun Ju ; Hardy, John A ; Brice, Alexis ; Wood, Nicholas W ; Houlden, Henry ; Shulman, Joshua M ; Morris, Huw R ; Gasser, Thomas ; Krüger, Rejko ; Heutink, Peter ; Sharma, Manu ; Simón-Sánchez, Javier ; Nalls, Mike A ; Singleton, Andrew B ; Scholz, Sonja W

Neurobiology of aging, 2017-09, Vol.57, p.247.e9-247.e13 [Periódico revisado por pares]

United States: Elsevier Inc

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5
PO184 Analysis of copy number variants in familial and sporadic parkinson’s disease
PO184 Analysis of copy number variants in familial and sporadic parkinson’s disease
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PO184 Analysis of copy number variants in familial and sporadic parkinson’s disease

Joseph, Theresita ; Hehir, Jason ; Tan, Manuela ; Zhang, Wei ; Houlden, Henry ; Lubbe, Steven ; Morris, Huw

Journal of neurology, neurosurgery and psychiatry, 2017-12, Vol.88 (Suppl 1), p.A59-A60 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

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6
PO187 Parkinson’s families project recruiting via the bnsu: baseline data
PO187 Parkinson’s families project recruiting via the bnsu: baseline data
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PO187 Parkinson’s families project recruiting via the bnsu: baseline data

Tan, Manuela MX ; Hong, James S ; Bras, Jose ; Lubbe, Steven J ; Grosset, Donald G ; Wood, Nick W ; Schapira, Anthony H ; Hardy, John ; Houlden, Henry ; Morris, Huw R

Journal of neurology, neurosurgery and psychiatry, 2017-12, Vol.88 (Suppl 1), p.A60-A61 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

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7
Establishing the role of rare coding variants in known Parkinson's disease risk loci
Establishing the role of rare coding variants in known Parkinson's disease risk loci
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Establishing the role of rare coding variants in known Parkinson's disease risk loci

Jansen, Iris E. ; Gibbs, J. Raphael ; Nalls, Mike A. ; Price, T. Ryan ; Lubbe, Steven ; van Rooij, Jeroen ; Uitterlinden, André G. ; Kraaij, Robert ; Williams, Nigel M. ; Brice, Alexis ; Hardy, John ; Wood, Nicholas W. ; Morris, Huw R. ; Gasser, Thomas ; Singleton, Andrew B. ; Heutink, Peter ; Sharma, Manu

Neurobiology of aging, 2017-11, Vol.59, p.220.e11-220.e18 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Establishing the role of rare coding variants in known Parkinson's disease risk loci
Establishing the role of rare coding variants in known Parkinson's disease risk loci
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Artigo 		Adicionar ao Meu Espaço

Establishing the role of rare coding variants in known Parkinson's disease risk loci

Jansen, Iris E ; Gibbs, J. Raphael ; Nalls, Mike A ; Price, T. Ryan ; Lubbe, Steven ; van Rooij, Jeroen ; Uitterlinden, André G ; Kraaij, Robert ; Williams, Nigel M ; Brice, Alexis ; Hardy, John ; Wood, Nicholas W ; Morris, Huw R ; Gasser, Thomas ; Singleton, Andrew B ; Heutink, Peter ; Sharma, Manu

2017-11

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9
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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 ; 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 ; Hernandez, Dena G ; Arepalli, Sampath ; Brooks, Janet ; Price, Ryan ; Nicolas, Aude ; Chong, Sean ; Cookson, Mark R ; Dillman, Allissa ; Moore, Matthew ; Traynor, Bryan J ; Plagnol, Vincent ; Nicholas W Wood, W Wood ; Sheerin, Una Marie ; Jose M Bras, M Bras ; Berendse, Henk W ; van Dijk, Karin D ; Bochdanovits, Zoltan

2017-01

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10
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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 ; International Parkinson’s Disease Genetics Consortium (IPGDC) ; Morris, Huw R ; Brice, Alexis ; Singleton, Andrew B ; David, Della C ; Nollen, Ellen A ; Jain, Shushant ; Shulman, Joshua M ; Heutink, Peter

Springer Science and Business Media LLC 2017-01

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