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The orthopedic characterization of cfap298tm304 mutants validate zebrafish to faithfully model human AIS

• Authors : Marie-Hardy, Laura; Cantaut-Belarif, Yasmine; Pietton, Raphaël ...

Subjects: Biomedical engineering; Clinical genetics; Development of the nervous system

• Source: ISSN: 2045-2322.

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The genetic architecture of human brainstem structures and their involvement in common brain disorders

• Authors : Elvsåshagen, Torbjørn; Bahrami, Shahram; van der Meer, Dennis ...

Subjects: Brain; Diseases of the nervous system; Genetics of the nervous system

• Source: ISSN: 2041-1723.

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Mapping genomic loci implicates genes and synaptic biology in schizophrenia

• Authors : Trubetskoy, Vassily; Panagiotaropoulou, Georgia; Awasthi, Swapnil ...

Subjects: Genetics of the nervous system; Schizophrenia/genetics; VARIANTS

• Source: Indonesia Schizophrenia Consortium, PsychENCODE, Psychosis Endophenotypes International Consortium, SynGO Consortium & Schizophrenia Working Group of the Psychiatric Genomics Consortium 2022, '

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Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

• Authors : Iglesias, Adriana I.; Mishra, Aniket; Vitart, Veronique ...

Subjects: genetics of the nervous system; genetics research; genome-wide association studies

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Definování diagnostických mezních hodnot u neurologických pacientů pro sérové mastné kyseliny s velmi dlouhým řetězcem (VLCFA) v geneticky potvrzené X-adrenoleukodystrofii

• Authors : Rattay, Tim W.; Rautenberg, Maren; Haack, Tobias B.

Subjects: Adult; Male; Genetics of the nervous system

• Source: Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)Scientific ReportsSci. Rep. 10:15093 (2020)Scientific reports 10(1), 15093 (2020). doi:10.1038/s41598-020-71248-8

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The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina

• Authors : Val C. Sheffield; Seongjin Seo; Janelle E. Garrison

Subjects: Male; Retinal degeneration; Genetics of the nervous system

• Source: Scientific Reports, Vol 10, Iss 1, Pp 1-19 (2020)Scientific Reports

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Atypical chemokine receptor ACKR2-V41A has decreased CCL2 binding, scavenging, and activation, supporting sustained inflammation and increased Alzheimer’s disease risk

• Authors : Josue D. Gonzalez Murcia; Allen Weinert; Daniel K. Arens

Subjects: Models, Molecular; Chemokine; Genetics of the nervous system

• Source: Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)Scientific Reports

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Transcriptomic evidence that von Economo neurons are regionally specialized extratelencephalic-projecting excitatory neurons

• Authors : Anna Marie Yanny; Madeline L. Berkowitz-Cerasano; Brian E. Kalmbach

Subjects: 0301 basic medicine; Telencephalon; Genetics of the nervous system

• Source: Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)Nature communications, vol 11, iss 1Nature Communications

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The CHD Protein, Kismet, is Important for the Recycling of Synaptic Vesicles during Endocytosis

• Authors : Rachel A. Smith; Taylor L. Delaney; Daniel R. Marenda

Subjects: Genetics of the nervous system; Vesicular Transport Proteins; lcsh:Medicine

• Source: Scientific Reports, Vol 9, Iss 1, Pp 1-13 (2019)Scientific Reports

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Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy

• Authors : Filippo M. Santorelli; Stefano Doccini; Federica Morani

Subjects: 0301 basic medicine; Autophagosome; Autosomal recessive spastic ataxia of charlevoix-Saguenay (ARSAcS)

• Source: Scientific Reports, Vol 9, Iss 1, Pp 1-16 (2019)Scientific Reports

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