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Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
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Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

Hammer, Monia B. ; Eleuch-Fayache, Ghada ; Schottlaender, Lucia V. ; Nehdi, Houda ; Gibbs, J. Raphael ; Arepalli, Sampath K. ; Chong, Sean B. ; Hernandez, Dena G. ; Sailer, Anna ; Liu, Guoxiang ; Mistry, Pramod K. ; Cai, Huaibin ; Shrader, Ginamarie ; Sassi, Celeste ; Bouhlal, Yosr ; Houlden, Henry ; Hentati, Fayçal ; Amouri, Rim ; Singleton, Andrew B.

American journal of human genetics, 2013-02, Vol.92 (2), p.245-251 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain
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Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain

Gibbs, J Raphael ; van der Brug, Marcel P ; Hernandez, Dena G ; Traynor, Bryan J ; Nalls, Michael A ; Lai, Shiao-Lin ; Arepalli, Sampath ; Dillman, Allissa ; Rafferty, Ian P ; Troncoso, Juan ; Johnson, Robert ; Zielke, H Ronald ; Ferrucci, Luigi ; Longo, Dan L ; Cookson, Mark R ; Singleton, Andrew B Flint, Jonathan

PLoS genetics, 2010-05, Vol.6 (5), p.e1000952-e1000952 [Periódico revisado por pares]

United States: Public Library of Science

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3
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
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MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

TRABZUNI, Daniah ; WRAY, Selina ; AREPALLI, Sampath ; SINGLETON, Andrew B ; COOKSON, Mark R ; PITTMAN, Alan M ; DE SILVA, Rohan ; WEALE, Michael E ; HARDY, John ; RYTEN, Mina ; VANDROVCOVA, Jana ; RAMASAMY, Adaikalavan ; WALKER, Robert ; SMITH, Colin ; LUK, Connie ; RAPHAEL GIBBS, J ; DILLMAN, Allissa ; HERNANDEZ, Dena G

Human molecular genetics, 2012-09, Vol.21 (18), p.4094-4103 [Periódico revisado por pares]

Oxford: Oxford University Press

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4
Epigenetic signature of human immune aging in the GESTALT study
Epigenetic signature of human immune aging in the GESTALT study
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Epigenetic signature of human immune aging in the GESTALT study

Roy, Roshni ; Kuo, Pei-Lun ; Candia, Julián ; Sarantopoulou, Dimitra ; Ubaida-Mohien, Ceereena ; Hernandez, Dena ; Kaileh, Mary ; Arepalli, Sampath ; Singh, Amit ; Bektas, Arsun ; Kim, Jaekwan ; Moore, Ann Z ; Tanaka, Toshiko ; McKelvey, Julia ; Zukley, Linda ; Nguyen, Cuong ; Wallace, Tonya ; Dunn, Christopher ; Wood, William ; Piao, Yulan ; Coletta, Christopher ; De, Supriyo ; Sen, Jyoti ; Weng, Nan-ping ; Sen, Ranjan ; Ferrucci, Luigi

eLife, 2023-08, Vol.12 [Periódico revisado por pares]

Cambridge: eLife Science Publications, Ltd

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5
A genome-wide association study identifies protein quantitative trait loci (pQTLs)
A genome-wide association study identifies protein quantitative trait loci (pQTLs)
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A genome-wide association study identifies protein quantitative trait loci (pQTLs)

Melzer, David ; Perry, John R B ; Hernandez, Dena ; Corsi, Anna-Maria ; Stevens, Kara ; Rafferty, Ian ; Lauretani, Fulvio ; Murray, Anna ; Gibbs, J Raphael ; Paolisso, Giuseppe ; Rafiq, Sajjad ; Simon-Sanchez, Javier ; Lango, Hana ; Scholz, Sonja ; Weedon, Michael N ; Arepalli, Sampath ; Rice, Neil ; Washecka, Nicole ; Hurst, Alison ; Britton, Angela ; Henley, William ; van de Leemput, Joyce ; Li, Rongling ; Newman, Anne B ; Tranah, Greg ; Harris, Tamara ; Panicker, Vijay ; Dayan, Colin ; Bennett, Amanda ; McCarthy, Mark I ; Ruokonen, Aimo ; Jarvelin, Marjo-Riitta ; Guralnik, Jack ; Bandinelli, Stefania ; Frayling, Timothy M ; Singleton, Andrew ; Ferrucci, Luigi Cheung, Vivian G.

PLoS genetics, 2008-05, Vol.4 (5), p.e1000072-e1000072 [Periódico revisado por pares]

United States: Public Library of Science

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6
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

JOHNSON, Janel O ; RAPHAEL GIBBS, J ; REILLY, Mary M ; MUNTONI, Francesco ; ABRAMZON, Yevgeniya ; HOULDEN, Henry ; SINGLETON, Andrew B ; MEGARBANE, Andre ; ANDONI URTIZBEREA, J ; HERNANDEZ, Dena G ; REGHAN FOLEY, A ; AREPALLI, Sampath ; PANDRAUD, Amelie ; SIMON-SANCHEZ, Javier ; CLAYTON, Peter

Brain (London, England : 1878), 2012-09, Vol.135 (Pt 9), p.2875-2882 [Periódico revisado por pares]

Oxford: Oxford University Press

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7
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data
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Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

Schymick, Jennifer C, BS ; Scholz, Sonja W, MD ; Fung, Hon-Chung, MD ; Britton, Angela, MS ; Arepalli, Sampath, MS ; Gibbs, J Raphael, BS ; Lombardo, Federica, PhD ; Matarin, Mar, PhD ; Kasperaviciute, Dalia, PhD ; Hernandez, Dena G, MSc ; Crews, Cynthia ; Bruijn, Lucie, PhD ; Rothstein, Jeffrey, MD ; Mora, Gabriele, MD ; Restagno, Gabriella, MD ; Chiò, Adriano, MD ; Singleton, Andrew, PhD ; Hardy, John, PhD ; Traynor, Bryan J, MD

Lancet neurology, 2007-04, Vol.6 (4), p.322-328 [Periódico revisado por pares]

England: Elsevier Ltd

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8
Genome-wide association study confirms extant PD risk loci among the Dutch
Genome-wide association study confirms extant PD risk loci among the Dutch
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Genome-wide association study confirms extant PD risk loci among the Dutch

SIMON-SANCHEZ, Javier ; VAN HILTEN, Jacobus J ; BLOEM, Bas ; VAN DIJK, Karin D ; RIVADENEIRA, Fernando ; HOFMAN, Albert ; UITTERLINDEN, André G ; RIZZU, Patrizia ; BOCHDANOVITS, Zoltan ; SINGLETON, Andrew B ; HEUTINK, Peter ; VAN DE WARRENBURG, Bart ; POST, Bart ; BERENDSE, Henk W ; AREPALLI, Sampath ; HERNANDEZ, Dena G ; DE BIE, Rob Ma ; VELSEBOER, Daan ; SCHEFFER, Hans

European journal of human genetics : EJHG, 2011-06, Vol.19 (6), p.655-661 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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9
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain
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Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

Hernandez, Dena G ; Nalls, Mike A ; Moore, Matthew ; Chong, Sean ; Dillman, Allissa ; Trabzuni, Daniah ; Gibbs, J. Raphael ; Ryten, Mina ; Arepalli, Sampath ; Weale, Michael E ; Zonderman, Alan B ; Troncoso, Juan ; O'Brien, Richard ; Walker, Robert ; Smith, Colin ; Bandinelli, Stefania ; Traynor, Bryan J ; Hardy, John ; Singleton, Andrew B ; Cookson, Mark R

Neurobiology of disease, 2012-07, Vol.47 (1), p.20-28 [Periódico revisado por pares]

United States: Elsevier Inc

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10
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families
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SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

Hammer, Monia B. ; Ding, Jinhui ; Mochel, Fanny ; Eleuch-Fayache, Ghada ; Charles, Perrine ; Coutelier, Marie ; Gibbs, J. Raphael ; Arepalli, Sampath K. ; Chong, Sean B. ; Hernandez, Dena G. ; Majounie, Elisa ; Clipman, Steven ; Bouhlal, Yosr ; Nehdi, Houda ; Brice, Alexis ; Hentati, Faycal ; Stevanin, Giovanni ; Amouri, Rim ; Durr, Alexandra ; Singleton, Andrew B.

Neuro-degenerative diseases, 2017-01, Vol.17 (4-5), p.208-212 [Periódico revisado por pares]

Basel, Switzerland: S. Karger AG

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