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1 . Academic Journal
Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila
저자
by
Jenny Zhe Liao
;
Hyung-lok Chung
;
Claire Shih
;
Kenneth Kin Lam Wong
;
Debdeep Dutta
, et al.
소스
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
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7 . Academic Journal
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
저자
by
Lot Snijders Blok
;
Jolijn Verseput
;
Dmitrijs Rots
;
Hanka Venselaar
;
A. Micheil Innes
, et al.
소스
HGG Advances, Vol 4, Iss 1, Pp 100157- (2023)
Full Text (Clinical Key)
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7 . Academic Journal
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
저자
by
Hui Guo
;
Elisa Bettella
;
Paul C. Marcogliese
;
Rongjuan Zhao
;
Jonathan C. Andrews
, et al.
소스
Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
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7 . Academic Journal
Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype
저자
by
Linda Z. Rossetti
;
Mir Reza Bekheirnia
;
Andrea M. Lewis
;
Heather C. Mefford
;
Katie Golden‐Grant
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
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7 .
Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy
저자
by
Shrestha Sinha Ray
;
Debdeep Dutta
;
Cassandra Dennys
;
Samantha Powers
;
Florence Roussel
, et al.
소스
Open Access (OpenAIRE)
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7 .
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
저자
by
Paul C. Marcogliese
;
Samantha L. Deal
;
Jonathan Andrews
;
J. Michael Harnish
;
V. Hemanjani Bhavana
, et al.
소스
Cell Reports, 38(11):110517. Cell Press
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7 .
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development
저자
by
Andrea Accogli
;
Shenzhao Lu
;
Ilaria Musante
;
Paolo Scudieri
;
Jill A. Rosenfeld
, et al.
소스
Cerebellum (London, England)
.
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7 .
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling
저자
by
Paul C. Marcogliese
;
Debdeep Dutta
;
Shrestha Sinha Ray
;
Nghi D. P. Dang
;
Zhongyuan Zuo
, et al.
소스
Science Advances, vol 8, iss 3
Science Advances
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7 .
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures
저자
by
Shenzhao Lu
;
Rebecca Hernan
;
Paul C. Marcogliese
;
Yan Huang
;
Tracy S. Gertler
, et al.
소스
American Journal of Human Genetics, 109, 571-586
Am J Hum Genet
American Journal of Human Genetics, 109, 4, pp. 571-586
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7 .
Neuronal ROS-induced glial lipid droplet formation is altered by loss of Alzheimer’s disease–associated genes
저자
by
Matthew J. Moulton
;
Scott Barish
;
Isha Ralhan
;
Jinlan Chang
;
Lindsey D. Goodman
, et al.
소스
Proc Natl Acad Sci U S A
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