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1 . Academic Journal
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
저자
by
Viorica Chelban
;
Henriette Aksnes
;
Reza Maroofian
;
Lauren C. LaMonica
;
Luis Seabra
, et al.
소스
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
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7 . Academic Journal
Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
저자
by
Catherine S. Storm
;
Demis A. Kia
;
Mona M. Almramhi
;
Sara Bandres-Ciga
;
Chris Finan
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
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7 . Academic Journal
Neuronal intranuclear inclusion disease is genetically heterogeneous
저자
by
Zhongbo Chen
;
Wai Yan Yau
;
Zane Jaunmuktane
;
Arianna Tucci
;
Prasanth Sivakumar
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1716-1725 (2020)
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7 . Academic Journal
Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease
저자
by
Viorica Chelban
;
Marianthi Breza
;
Maria Szaruga
;
Jana Vandrovcova
;
David Murphy
, et al.
소스
Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 13, Iss 1, Pp n/a-n/a (2021)
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7 . Academic Journal
Stratification of candidate genes for Parkinson’s disease using weighted protein-protein interaction network analysis
저자
by
Raffaele Ferrari
;
Demis A. Kia
;
James E. Tomkins
;
John Hardy
;
Nicholas W. Wood
, et al.
소스
BMC Genomics, Vol 19, Iss 1, Pp 1-8 (2018)
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7 . Academic Journal
The influence of microsatellite polymorphisms in sex steroid receptor genes ESR1, ESR2 and AR on sex differences in brain structure
저자
by
Geoffrey Chern-Yee Tan, MBBS-PhD, MRCPsych (UK)
;
Carlton Chu
;
Yu Teng Lee
;
Clarence Chih King Tan
;
John Ashburner
, et al.
소스
NeuroImage, Vol 221, Iss , Pp 117087- (2020)
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7 . Academic Journal
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17
저자
by
Suran Nethisinghe
;
Wei N. Lim
;
Heather Ging
;
Anna Zeitlberger
;
Rosella Abeti
, et al.
소스
Frontiers in Cellular Neuroscience, Vol 12 (2018)
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7 . Academic Journal
Differential DJ-1 gene expression in Parkinson's disease
저자
by
Ravindran Kumaran
;
Jana Vandrovcova
;
Connie Luk
;
Simone Sharma
;
Alan Renton
, et al.
소스
Neurobiology of Disease, Vol 36, Iss 2, Pp 393-400 (2009)
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7 . Academic Journal
Synphilin-1 and parkin show overlapping expression patterns in human brain and form aggresomes in response to proteasomal inhibition
저자
by
Rina Bandopadhyay
;
Ann E. Kingsbury
;
Miratul M. Muqit
;
Kirsten Harvey
;
Andrew R. Reid
, et al.
소스
Neurobiology of Disease, Vol 20, Iss 2, Pp 401-411 (2005)
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7 . Academic Journal
PINK1 deficiency in β-cells increases basal insulin secretion and improves glucose tolerance in mice
저자
by
Emma Deas
;
Kaisa Piipari
;
Asif Machhada
;
Abi Li
;
Ana Gutierrez-del-Arroyo
, et al.
소스
Open Biology, Vol 4, Iss 5 (2014)
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