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Coding variation in GBA explains the majority of the SYT11‐GBA Parkinson's disease GWAS locus
Coding variation in GBA explains the majority of the SYT11‐GBA Parkinson's disease GWAS locus
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Coding variation in GBA explains the majority of the SYT11‐GBA Parkinson's disease GWAS locus

Blauwendraat, Cornelis ; Bras, Jose M. ; Nalls, Mike A. ; Lewis, Patrick A. ; Hernandez, Dena G. ; Singleton, Andrew B.

Movement disorders, 2018-11, Vol.33 (11), p.1821-1823 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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2
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
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H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

Erro, Roberto ; Hersheson, Joshua ; Ganos, Christos ; Mencacci, Niccoló E. ; Stamelou, Maria ; Batla, Amit ; Thust, Stefanie Catherine ; Bras, Jose M. ; Guerreiro, Rita J. ; Hardy, John ; Quinn, Niall P. ; Houlden, Henry ; Bhatia, Kailash P.

Movement disorders, 2015-05, Vol.30 (6), p.828-833 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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3
Hyposmia and cognitive impairment in Gaucher disease patients and carriers
Hyposmia and cognitive impairment in Gaucher disease patients and carriers
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Hyposmia and cognitive impairment in Gaucher disease patients and carriers

McNeill, Alisdair ; Duran, Raquel ; Proukakis, Christos ; Bras, Jose ; Hughes, Derralyn ; Mehta, Atuhl ; Hardy, John ; Wood, Nicholas W. ; Schapira, Anthony H.V.

Movement disorders, 2012-04, Vol.27 (4), p.526-532 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
Ataxia with oculomotor apraxia is associated with the DNA damage repair pathway
Ataxia with oculomotor apraxia is associated with the DNA damage repair pathway
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Ataxia with oculomotor apraxia is associated with the DNA damage repair pathway

Ganos, Christos ; Bras, Jose

Movement disorders, 2017-05, Vol.32 (5), p.720-720 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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5
Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series
Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series
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Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

van de Leemput, Joyce ; Wavrant-De Vrièze, Fabienne ; Rafferty, Ian ; Bras, Jose M. ; Giunti, Paola ; Fisher, Elizabeth MC ; Hardy, John A. ; Singleton, Andrew B. ; Houlden, Henry

Movement disorders, 2010-04, Vol.25 (6), p.771-773 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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6
Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases
Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases
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Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases

Guerreiro, Rita Joao ; Santana, Isabel ; Bras, Jose Miguel ; Revesz, Tamas ; Rebelo, Olinda ; Ribeiro, Maria Helena ; Santiago, Beatriz ; Oliveira, Catarina Resende ; Singleton, Andrew ; Hardy, John

Movement disorders, 2008-07, Vol.23 (9), p.1269-1273 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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7
Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score
Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score
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Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score

Iwaki, Hirotaka ; Makarious, Mary B. ; Bandrés‐Ciga, Sara ; Leonard, Hampton L. ; Gibbs, J. Raphael ; Singleton, Andrew B. ; Middlehurst, Ben ; Kia, Demis A ; Houlden, Henry ; Morris, Huw R ; Plun‐Favreau, Helene ; Quinn, John ; Mok, Kin Y ; Kinghorn, Kerri J. ; Wood, Nicholas W ; Lewis, Patrick ; Lovering, Ruth ; Rizig, Mie ; Ryten, Mina ; Guelfi, Sebastian ; Escott‐Price, Valentina ; Chelban, Viorica ; Foltynie, Thomas ; Williams, Nigel ; Morrison, Karen E. ; Clarke, Carl ; Brice, Alexis ; Danjou, Fabrice ; Lesage, Suzanne ; Martinez, Maria ; Simón‐Sánchez, Javier ; Heutink, Peter ; Rizzu, Patrizia ; Sharma, Manu ; Gasser, Thomas ; Bandres‐Ciga, Sara ; Blauwendraat, Cornelis ; Craig, David W. ; Billingsley, Kimberley ; Narendra, Derek ; Raphael Gibbs, J ; Shulman, Joshua M. ; Iwaki, Hirotaka ; Leonard, Hampton L. ; Nalls, Mike A. ; Finkbeiner, Steven ; Lungu, Codrin ; Singleton, Andrew B ; Gan‐Or, Ziv ; Rouleau, Guy A. ; Krohn, Lynne ; Aguilar, Miquel ; Alvarez, Ignacio ; Alvarez, Victoria ; Barrero, Francisco Javier ; Yarza, Jesús Alberto Bergareche ; Bonilla‐Toribio, Marta ; Boungiorno, María Teresa ; Buiza‐Rueda, Dolores ; Cámara, Ana ; Carrillo, Fátima ; Carrión‐Claro, Mario ; Cerdan, Debora ; Diez‐Fairen, Monica ; Dols‐Icardo, Oriol ; Duarte, Jacinto ; Duran, Raquel ; Escamilla‐Sevilla, Francisco ; Feliz, Cici ; Fernández, Manel ; Gonzalez‐Aramburu, Isabel ; Pagola, Ana Gorostidi ; Hoenicka, Janet ; Infante, Jon ; Jesús, Silvia ; Jimenez‐Escrig, Adriano ; Kulisevsky, Jaime ; Labrador‐Espinosa, Miguel A. ; Lopez‐Sendon, Jose Luis ; Torres, Irene Martínez ; Mir, Pablo ; Rezola, Elisabet Mondragon ; Periñán‐Tocino, Teresa ; Ruiz‐Martínez, Javier ; Ruz, Clara ; Rodriguez, Antonio Sanchez ; Tabernero, Cesar ; Tartari, Juan Pablo ; Tolosa, Eduard ; Valldeoriola, Francesc ; Vela, Lydia ; Vives, Francisco ; Zimprich, Alexander ; Koks, Sulev ; Siitonen, Ari ; Kaiyrzhanov, Coordinator ‐ Rauan ; Zharkinbekova, Nazira ; Aitkulova, Akbota ; Kaishybayeva, Gulnaz ; Karimova, Altynay

Movement disorders, 2020-05, Vol.35 (5), p.774-780 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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8
Mouse models of kufor‐rakeb disease link Parkinson's disease closer to neuronal ceroid lipofuscinosis, suggesting lysosomal dysfunction as shared mechanism
Mouse models of kufor‐rakeb disease link Parkinson's disease closer to neuronal ceroid lipofuscinosis, suggesting lysosomal dysfunction as shared mechanism
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Mouse models of kufor‐rakeb disease link Parkinson's disease closer to neuronal ceroid lipofuscinosis, suggesting lysosomal dysfunction as shared mechanism

Schneider, Susanne A. ; Bras, Jose

Movement disorders, 2017-02, Vol.32 (2), p.209-209 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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9
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease
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The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease

Saez‐Atienzar, Sara ; Bonet‐Ponce, Luis ; Vitale, Dan ; Blauwendraat, Cornelis ; Pihlstrøm, Lasse ; Gan‐Or, Ziv ; Noyce, Alastair J ; Middlehurst, Ben ; Kia, Demis A ; Tan, Manuela ; Houlden, Henry ; Holmans, Peter ; Hardy, John ; Mok, Kin Y ; Kinghorn, Kerri J. ; Wood, Nicholas W ; Lovering, Ruth ; RņBibo, Lea ; Rizig, Mie ; Ryten, Mina ; Guelfi, Sebastian ; Escott‐Price, Valentina ; Chelban, Viorica ; Foltynie, Thomas ; Williams, Nigel ; Morrison, Karen E. ; Brice, Alexis ; Danjou, Fabrice ; Corvol, Jean‐Christophe ; Brockmann, Kathrin ; Rizzu, Patrizia ; Gasser, Thomas ; Bandres‐Ciga, Sara ; Blauwendraat, Cornelis ; Craig, David W. ; Faghri, Faraz ; Gibbs, J Raphael ; Hernandez, Dena G. ; Shulman, Joshua M. ; Iwaki, Hirotaka ; Robak, Laurie ; Lubbe, Steven ; Mencacci, Niccolo E. ; Lungu, Codrin ; Scholz, Sonja W. ; Reed, Xylena ; Alcalay, Roy N. ; Hilten, Jacobus J ; Marinus, Johan ; Aguilar, Miquel ; Alvarez, Victoria ; Barrero, Francisco Javier ; Yarza, Jesɐs Alberto Bergareche ; Bernal‐Bernal, Inmaculada ; Blazquez, Marta ; Bonilla‐Toribio, Marta ; Buiza‐Rueda, Dolores ; CarriɃn‐Claro, Mario ; ClarimɃn, Jordi ; Compta, Yaroslau ; Casa, Beatrȷz ; Dols‐Icardo, Oriol ; Duarte, Jacinto ; Duran, Raquel ; Ezquerra, Mario ; Feliz, Cici ; Garcia, Ciara ; Garcȷa‐Ruiz, Pedro ; Heredia, Maria Jose Gomez ; Gonzalez‐Aramburu, Isabel ; Pagola, Ana Gorostidi ; Infante, Jon ; Jimenez‐Escrig, Adriano ; Kulisevsky, Jaime ; Munain Arregui, Adolfo LɃpez ; Macias, Daniel ; Torres, Irene Martȷnez ; Marȷn, Juan ; Marti, Maria Jose ; Martȷnez‐Castrillo, Juan Carlos ; Mȳndez‐del‐Barrio, Carlota ; Mata, Marina ; MuɁoz, Esteban ; Pagonabarraga, Javier ; Pascual‐Sedano, Berta ; PeriɁȥn‐Tocino, Teresa ; Ruiz‐Martȷnez, Javier ; Rodriguez, Antonio Sanchez ; Sierra, Marȷa ; Tabernero, Cesar ; Tartari, Juan Pablo ; Tejera‐Parrado, Cristina ; Valldeoriola, Francesc ; Vargas‐Gonzȥlez, Laura ; Vela, Lydia ; Vives, Francisco ; Zimprich, Alexander ; Koks, Sulev ; Hassin‐Baer, Sharon ; Nalls, Mike A.

Movement disorders, 2019-04, Vol.34 (4), p.460-468 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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10
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population‐Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population‐Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight
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The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population‐Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

Ahmed, Sarah ; Jesús, Silvia ; Méndez‐del‐Barrio, Carlota ; Vargas‐González, Laura ; Tartari, Juan Pablo ; Mondragon, Elisabet ; Vinagre‐Aragon, Ana ; Dols‐Icardo, Oriol ; Pascual‐Sedano, Berta ; Ezquerra, Mario ; Cámara, Ana ; Compta, Yaroslau ; Fernández, Manel ; Sierra, María ; Menéndez‐González, Manuel ; García‐Ruiz, Pedro ; Vela‐Desojo, Lydia ; Barrero, Francisco Javier ; Mínguez‐Castellanos, Adolfo ; Cerdan, Debora ; Gomez Heredia, Maria Jose ; Feliz, Cici ; Lopez‐Sendon, Jose Luis ; Martínez Torres, Irene ; Kim, Jonggeol Jeffrey ; Botia, Juan A. ; Morrison, Karen E. ; Morris, Huw ; Edsall, Connor ; Vives, Francisco ; Duran, Raquel ; Hoenicka, Janet ; Alvarez, Victoria ; Marti, Maria José ; Singleton, Andrew ; Noyce, Alastair J ; Holmans, Peter ; Trabzuni, Daniah ; Bras, Jose ; Wood, Nicholas W ; Guerreiro, Rita ; Guelfi, Sebastian ; Chelban, Viorica ; Foltynie, Thomas ; Morrison, Karen E. ; Brockmann, Kathrin ; Gasser, Thomas ; Cookson, Mark R ; Blauwendraat, Cornelis ; Craig, David W. ; Faghri, Faraz ; Gibbs, J Raphael ; Shulman, Joshua M. ; Leonard, Hampton L. ; Nalls, Mike A. ; Robak, Laurie ; Lubbe, Steven ; Mencacci, Niccolo E. ; Alcalay, Roy N. ; Krohn, Lynne ; Aguilar, Miquel ; Alvarez, Ignacio ; Yarza, Jesús Alberto Bergareche ; Blazquez, Marta ; Botía, Juan A. ; Boungiorno, María Teresa ; Buiza-Rueda, Dolores ; Clarimón, Jordi ; Casa, Beatríz ; Diez-Fairen, Monica ; Dols-Icardo, Oriol ; Duarte, Jacinto ; Fernández, Manel ; Heredia, Maria Jose Gomez ; Hoenicka, Janet ; Infante, Jon ; Jesús, Silvia ; Jimenez-Escrig, Adriano ; Arregui, Adolfo López de Munain ; Marín, Juan ; Mata, Marina ; Mínguez, Adolfo ; Mir, Pablo ; Pascual-Sedano, Berta ; Pastor, Pau ; Errazquin, Francisco Perez ; Ruiz-Martínez, Javier ; Rodriguez, Antonio Sanchez ; Sierra, María ; Suarez-Sanmartin, Esther ; Tolosa, Eduard ; Valldeoriola, Francesc ; Vargas-González, Laura ; Zimprich, Alexander ; Taba, Pille ; Dalgard, Clifton L. ; Adeleye, Adelani ; Soltis, Anthony R. ; Bacikova, Dagmar ; Wilkerson, Matthew D.

Movement disorders, 2019-12, Vol.34 (12), p.1851-1863 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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