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Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Chauhan, Ganesh ; Adams, Hieab H.H. ; Satizabal, Claudia L. ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2019

In: Neurology Vol. 92, No. 5 ( 2019-01-29)

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In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 92, No. 5 ( 2019-01-29)

Type of Medium: Online Resource

ISSN: 0028-3878 , 1526-632X

URL: Article

DOI: 10.1212/WNL.0000000000006851

RVK:

XA 10000

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2019

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New insights into the genetic etiology of Alzheimer’s disease and related dementias

Bellenguez, Céline ; Küçükali, Fahri ; Jansen, Iris E. ; [et al.]

Springer Science and Business Media LLC ; 2022

In: Nature Genetics Vol. 54, No. 4 ( 2022-04), p. 412-436

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In: Nature Genetics, Springer Science and Business Media LLC, Vol. 54, No. 4 ( 2022-04), p. 412-436

Abstract: Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele.

Type of Medium: Online Resource

ISSN: 1061-4036 , 1546-1718

URL: Article

DOI: 10.1038/s41588-022-01024-z

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2022

detail.hit.zdb_id: 1494946-5

SSG: 12

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Novel genetic loci underlying human intracranial volume identified through genome-wide association

Adams, Hieab H H ; Hibar, Derrek P ; Chouraki, Vincent ; [et al.]

Springer Science and Business Media LLC ; 2016

In: Nature Neuroscience Vol. 19, No. 12 ( 2016-12), p. 1569-1582

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In: Nature Neuroscience, Springer Science and Business Media LLC, Vol. 19, No. 12 ( 2016-12), p. 1569-1582

Type of Medium: Online Resource

ISSN: 1097-6256 , 1546-1726

URL: Article

DOI: 10.1038/nn.4398

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2016

detail.hit.zdb_id: 1494955-6

SSG: 12

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Novel genetic loci associated with hippocampal volume

Hibar, Derrek P. ; Adams, Hieab H. H. ; Jahanshad, Neda ; [et al.]

Springer Science and Business Media LLC ; 2017

In: Nature Communications Vol. 8, No. 1 ( 2017-01-18)

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In: Nature Communications, Springer Science and Business Media LLC, Vol. 8, No. 1 ( 2017-01-18)

Abstract: The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes ( ASTN2 , DPP4 and MAST4 ) and one is found 200 kb upstream of SHH . A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer’s disease ( r g =−0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.

Type of Medium: Online Resource

ISSN: 2041-1723

URL: Article

DOI: 10.1038/ncomms13624

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2017

detail.hit.zdb_id: 2553671-0

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New treatments for movement disorders?

Fox, Susan H. ; Brotchie, Jonathan M. ; Fox, S.H. ; [et al.]

Elsevier BV ; 1996

In: Trends in Pharmacological Sciences Vol. 17, No. 10 ( 1996-10), p. 339-342

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In: Trends in Pharmacological Sciences, Elsevier BV, Vol. 17, No. 10 ( 1996-10), p. 339-342

Type of Medium: Online Resource

ISSN: 0165-6147

URL: Article

DOI: 10.1016/S0165-6147(96)80004-6

Language: English

Publisher: Elsevier BV

Publication Date: 1996

detail.hit.zdb_id: 2011007-8

SSG: 15,3

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Alternating Hemiplegia of Childhood-Related Neural and Behavioural Phenotypes in Na+,K+-ATPase α3 Missense Mutant Mice

Kirshenbaum, Greer S. ; Dawson, Neil ; Mullins, Jonathan G. L. ; [et al.]

Public Library of Science (PLoS) ; 2013

In: PLoS ONE Vol. 8, No. 3 ( 2013-3-20), p. e60141-

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In: PLoS ONE, Public Library of Science (PLoS), Vol. 8, No. 3 ( 2013-3-20), p. e60141-

Type of Medium: Online Resource

ISSN: 1932-6203

URL: Article

DOI: 10.1371/journal.pone.0060141

DOI: 10.1371/journal.pone.0060141.g001

DOI: 10.1371/journal.pone.0060141.g002

DOI: 10.1371/journal.pone.0060141.g003

DOI: 10.1371/journal.pone.0060141.g004

DOI: 10.1371/journal.pone.0060141.g005

DOI: 10.1371/journal.pone.0060141.g006

DOI: 10.1371/journal.pone.0060141.g007

DOI: 10.1371/journal.pone.0060141.t001

DOI: 10.1371/journal.pone.0060141.s001

DOI: 10.1371/journal.pone.0060141.s002

DOI: 10.1371/journal.pone.0060141.s003

DOI: 10.1371/journal.pone.0060141.s004

DOI: 10.1371/journal.pone.0060141.s005

DOI: 10.1371/journal.pone.0060141.s006

DOI: 10.1371/journal.pone.0060141.s007

DOI: 10.1371/journal.pone.0060141.s008

DOI: 10.1371/journal.pone.0060141.s009

DOI: 10.1371/journal.pone.0060141.s010

DOI: 10.1371/journal.pone.0060141.s011

DOI: 10.1371/journal.pone.0060141.s012

DOI: 10.1371/journal.pone.0060141.s013

DOI: 10.1371/journal.pone.0060141.s014

DOI: 10.1371/journal.pone.0060141.s015

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2013

detail.hit.zdb_id: 2267670-3

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Assessment of Safety and Efficacy of Safinamide as a Levodopa Adjunct in Patients With Parkinson Disease and Motor Fluctuations : A Randomized Clinical Trial

Schapira, Anthony H. V. ; Fox, Susan H. ; Hauser, Robert A. ; [et al.]

American Medical Association (AMA) ; 2017

In: JAMA Neurology Vol. 74, No. 2 ( 2017-02-01), p. 216-

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In: JAMA Neurology, American Medical Association (AMA), Vol. 74, No. 2 ( 2017-02-01), p. 216-

Type of Medium: Online Resource

ISSN: 2168-6149

URL: Article

DOI: 10.1001/jamaneurol.2016.4467

Language: English

Publisher: American Medical Association (AMA)

Publication Date: 2017

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TC-8831, a nicotinic acetylcholine receptor agonist, reduces l-DOPA-induced dyskinesia in the MPTP macaque

Johnston, Tom H. ; Huot, Philippe ; Fox, Susan H. ; [et al.]

Elsevier BV ; 2013

In: Neuropharmacology Vol. 73 ( 2013-10), p. 337-347

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In: Neuropharmacology, Elsevier BV, Vol. 73 ( 2013-10), p. 337-347

Type of Medium: Online Resource

ISSN: 0028-3908

URL: Article

DOI: 10.1016/j.neuropharm.2013.06.005

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2013

detail.hit.zdb_id: 1500655-4

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Fatty Acid Amide Hydrolase (FAAH) Inhibition Reduces l-3,4-Dihydroxyphenylalanine-Induced Hyperactivity in the 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine-Lesioned Non-Human Primate Model of Parkinson's Disease

Johnston, Tom H. ; Huot, Philippe ; Fox, Susan H. ; [et al.]

American Society for Pharmacology & Experimental Therapeutics (ASPET) ; 2011

In: Journal of Pharmacology and Experimental Therapeutics Vol. 336, No. 2 ( 2011-02), p. 423-430

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In: Journal of Pharmacology and Experimental Therapeutics, American Society for Pharmacology & Experimental Therapeutics (ASPET), Vol. 336, No. 2 ( 2011-02), p. 423-430

Type of Medium: Online Resource

ISSN: 0022-3565 , 1521-0103

URL: Article

DOI: 10.1124/jpet.110.169532

Language: English

Publisher: American Society for Pharmacology & Experimental Therapeutics (ASPET)

Publication Date: 2011

detail.hit.zdb_id: 1475023-5

SSG: 15,3

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Use of catechol- O -methyltransferase inhibition to minimize L-3,4-dihydroxyphenylalanine-induced dyskinesia in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-lesioned macaque

Huot, Philippe ; Johnston, Tom H. ; Snoeren, Tessa ; [et al.]

Wiley ; 2013

In: European Journal of Neuroscience Vol. 37, No. 5 ( 2013-03), p. 831-838

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In: European Journal of Neuroscience, Wiley, Vol. 37, No. 5 ( 2013-03), p. 831-838

Type of Medium: Online Resource

ISSN: 0953-816X

URL: Article

DOI: 10.1111/ejn.12093

Language: English

Publisher: Wiley

Publication Date: 2013

detail.hit.zdb_id: 2005178-5

SSG: 12

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