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Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B

Movement Disorders(2025)10.1002/mds.30249Source: DataRank Database

Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B is a research paper published in Movement Disorders (2025). On theSindex it has a DataRank of 0. It has been cited 1 time.

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Enrichment:Funding (12 grants)OA: hybridTopics (36)IDs (PubMed, PMC)

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Authors (22)

Noam Hadar ORCID,Eyal Kristal ORCID,Nicola Roberts,Vadim Dolgin ORCID,Ilana Aminov

Live enrichment

PubMed:40492975 PMC:PMC12485581

Israel Science Foundation

Grant: 2463/23

National Cancer Institute

Grant: R01CA197139

National Human Genome Research Institute

Grant: UM1HG007301

Sir Jules Thorn Charitable Trust

Grant: JTA/09

UK Research and Innovation Future Leaders Fellowship

Grant: MR/T02044X/1

National Institute Health Research/Medical Research Council Clinical Academic Research Partnership award

Grant: MR/V037617/1

UK Research and Innovation

Grant: MR/Y034325/1

Characterising and targeting D-type Cyclins in development and disease.

Medical Research Council

MSA Trust

Wellcome Trust

Multiple System Atrophy Trust

National Institute for Health and Care Research - Biomedical Research Centre

hybridLicense: CC BY

publisherhttps://movementdisorders.onlinelibrary.wiley.com/doi/pdf/10.1002/mds.30249

Europe_PMChttps://europepmc.org/articles/PMC12485581

Europe_PMChttps://europepmc.org/articles/PMC12485581?pdf=render

https://doi.org/10.1002/mds.30249

https://pubmed.ncbi.nlm.nih.gov/40492975

Fields of Study

0303 health sciences03 medical and health sciences

MeSH Terms

HumansMovement DisordersPedigreeDevelopmental DisabilitiesPhenotypeAdolescentAdultChildChild, PreschoolFemaleMaleCyclic Nucleotide Phosphodiesterases, Type 1HEK293 CellsExome Sequencing

Keywords

PhosphodiesteraseEarly OnsetMovement DisorderExome SequencingPde1bMaleAdultMovement DisordersAdolescentDevelopmental DisabilitiesCyclic Nucleotide Phosphodiesterases, Type 1phosphodies-terasePedigreePhenotypeHEK293 CellsChild, PreschoolHumansFemaleChildResearch Article