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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Neuron(2020)10.1016/j.neuron.2020.10.035Source: DataRank Database

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly is a research paper published in Neuron (2020). On theSindex it has a DataRank of 0. It has been cited 59 times.

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Open Access59 citations

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bioproject gen refseq pdb

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (16 grants)OA: greenTopics (35)IDs (PubMed, PMC)Annotations (4)

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Authors (37)

A. Dinsmoor Webb ORCID,Chen Li ORCID,Danny Antaki ORCID,Sangmoon Lee ORCID,Martin W. Breuss ORCID

Live enrichment

PubMed:33220177 PMC:PMC8800389

Medical Research Council

Grant: MR/K011154/1

NCATS NIH HHS

Grant: UL1 TR001442

NIH HHS

Grant: S10 OD026929

NINDS NIH HHS

Grant: R01 NS048453

NINDS NIH HHS

Grant: R01 NS092772

NINDS NIH HHS

Grant: R01 NS098004

NHGRI NIH HHS

Grant: UM1 HG008900

Wellcome Trust

Grant: 094232

NINDS NIH HHS

Grant: F32 NS009800

Medical Research Council

Grant: MR/M009084/1

NINDS NIH HHS

Grant: P30 NS047101

NHGRI NIH HHS

Grant: U54 HG006504

Wellcome Trust

Howard Hughes Medical Institute

National Institutes of Health

Simons Foundation Autism Research Initiative

greenLicense: http://www.elsevier.com/open-access/userlicense/1.0/

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/8800389

publisherhttps://api.elsevier.com/content/article/PII:S089662732030859X?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S089662732030859X?httpAccept=text/plain

MeSH Terms

SpliceosomesAnimalsMice, Inbred C57BLMice, TransgenicHumansMiceMicrocephalyCerebellar DiseasesHeredodegenerative Disorders, Nervous SystemPeptidylprolyl IsomeraseCell Cycle ProteinsCohort StudiesPedigreeAmino Acid SequenceProtein Structure, SecondaryProtein Structure, TertiaryMutationFemaleMaleGene Knockout TechniquesHEK293 CellsRNA Splicing Factors

Keywords

NMRAlternative splicingBrain DevelopmentNeurodegenerationcyclophilinMicrocephalySpliceosomeProline IsomeraseRecessive DiseasePontocerebellar HypoplasiaPchmPpil1Prp17