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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain(2020)10.1093/brain/awaa420Source: DataRank Database

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy is a research paper published in Brain (2020). On theSindex it has a DataRank of 0. It has been cited 56 times.

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Open Access56 citations

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›Methodology & internals

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Enrichment:Funding (29 grants)OA: hybridTopics (68)IDs (PubMed, PMC)Annotations (3)SDGs (2)

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Findable (1/2)

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Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (96)

Rauan Kaiyrzhanov ORCID,Yaqun Zou ORCID,Sahar Da’as ORCID,Reza Maroofian ORCID,Sandra Donkervoort ORCID

Live enrichment

PubMed:33559681 PMC:PMC8263055

Wellcome Trust

Grant: 203141/Z/16/Z

European Union’s Seventh Framework Programme for research

Grant: 608473

Deutsche Forschungsgemeinschaft

Grant: Wi 945/19-1

Deutsche Forschungsgemeinschaft

Grant: Wi 945/18-1

Deutsche Forschungsgemeinschaft

Grant: CMMC C18

Sidra Medicine Internal Research Fund

Grant: IRF-2019, SDR400034

Medical Research Council

Grant: MC_PC_14089

Muscular Dystrophy UK

Grant: 18GRO-PG24-0271

Medical Research Council

Grant: MR/T001712/1

Muscular Dystrophy UK

Grant: RA4/0924

Medical Research Council

Grant: MR/S006753/1

National Institute for Health Research (NIHR)

Grant: NF-SI-0515-10022

National Institute for Health Research (NIHR)

Grant: NF-SI-0617-10154

Medical Research Council

Grant: MC_EX_MR/M009203/1

Medical Research Council

Grant: MR/M009203/1

Medical Research Council

Grant: HDR-9004

Swedish Research Council

Grant: unidentified

unidentified

Wellcome Trust

Grant: 203141

Human Genetics and Disease Biology: Core Renewal for the Wellcome Trust Centre for Human Genetics

National Health Service as part of their care and support

Swedish Research Council

MRC and the Biomedical Research Centres at UCL and UCLH

NIH National Institute of Neurological Disorders and Stroke

Cancer Research UK and the Medical Research Council

MRC, Ataxia

CMMC fellowship

MDUK

National Institute for Health Research (NIHR)

NHS England

NIHR Biomedical Research Centre Oxford

hybridLicense: cc-by

publisherhttps://academic.oup.com/brain/article-pdf/144/2/584/36742447/awaa420.pdf

publisherhttp://academic.oup.com/brain/article-pdf/144/2/584/36742447/awaa420.pdf

repositoryhttp://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-19776

repositoryhttps://hdl.handle.net/2434/1240431

repositoryhttps://figshare.com/articles/journal_contribution/An_ancestral_10-bp_repeat_expansion_in_i_VWA1_i_causes_recessive_hereditary_motor_neuropathy/25877980

Fields of Study

0301 basic medicine0303 health sciences03 medical and health sciences

MeSH Terms

Muscle, SkeletalAnimalsZebrafishHumansExtracellular Matrix ProteinsPedigreeBehavior, AnimalMutationAdultAgedMiddle AgedChildFemaleMaleYoung AdultHereditary Sensory and Motor Neuropathy

Keywords

EMGNerve Conduction StudiesWhole-genome SequencingHereditary Motor And Sensory NeuropathiesGenetics: Neuropathyhereditary motor and sensory neuropathieMale*EMGChildZebrafishExtracellular Matrix ProteinsBehavior, AnimalSkeletalExtracellular Matrix ProteinHälsovetenskaperMiddle AgedPedigreeSkeletal/pathologyMuscleFemaleNeurovetenskaperHumanAdult610EMG; genetics: neuropathy; hereditary motor and sensory neuropathies; nerve conduction studies; whole-genome sequencing; Adult; Aged; Animals; Behavior; Animal; Child; Extracellular Matrix Proteins; Female; Hereditary Sensory and Motor Neuropathy; Humans; Male; Middle Aged; Muscle; Skeletal; Mutation; Pedigree; Young Adult; Zebrafish*whole-genome sequencing*genetics: neuropathyYoung AdultAnimal/physiologyHealth SciencesAnimalsHumansMuscle, SkeletalAged*hereditary motor and sensory neuropathiesBehaviorRadboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical NeuroscienceAnimalNeurosciencesNeurology - Radboud University Medical CenterRadboudumc 3: Disorders of movement DCMN: Donders Center for Medical NeuroscienceOriginal Articles*nerve conduction studiesMutationnerve conduction studieHuman Genetics - Radboud University Medical CenterExtracellular Matrix Proteins/*geneticsHereditary Sensory and Motor NeuropathyHereditary Sensory and Motor Neuropathy/*genetics/pathology

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SDG 2: 2. Zero hungerSDG 3: 3. Good health