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Parental diagnostic delay and developmental outcomes in congenital and childhood‐onset myotonic dystrophy type 1

Developmental Medicine & Child Neurology(2024)10.1111/dmcn.16079Source: DataRank Database

Parental diagnostic delay and developmental outcomes in congenital and childhood‐onset myotonic dystrophy type 1 is a research paper published in Developmental Medicine & Child Neurology (2024). On theSindex it has a DataRank of 0. It has been cited 8 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access8 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (14 grants)Impact (FWCI 1.54)OA: hybridTopics (39)Linked Datasets (2)DataCite Reuse (2)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (2/2)

Has DOI
Indexed in repositories

Accessible (1/2)

Open Access

Interoperable (2/2)

DataCite relations
Linked datasets

Reusable (0/3)

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Authors (13)

Emilio Albamonte ORCID,Marika Pane ORCID,Federica Ricci ORCID,Adele D’Amico ORCID,Guja Astrea ORCID

Live enrichment

PubMed:39231278 PMC:PMC11794672 OpenAlex:https://openalex.org/W4402215077

FDA HHS

Grant: R01 FD006071

NCBDD CDC HHS

Grant: U01 DD001242

NINDS NIH HHS

Grant: U01 NS124974

NINDS NIH HHS

Grant: K23 NS091511

NCATS NIH HHS

Grant: R21 TR003184

Telethon

Grant: GUP19002

NINDS NIH HHS

Grant: R01 NS104010

National Institutes of Health

Grant: 1K23NS091511-01

Health Endpoints and Longitudinal Progression in Congenital Myotonic Dystrophy (HELP-CDM)

National Institutes of Health

Grant: 5K23NS091511-04

Health Endpoints and Longitudinal Progression in Congenital Myotonic Dystrophy (HELP-CDM)

National Institutes of Health

Grant: 3R01FD006071-02S1

Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type-1

National Institutes of Health

Grant: 1R21TR003184-01

Development and validation of clinical outcome assessments in LGMD2A

National Institutes of Health

Grant: 1R01NS104010-01A1

Identifying the RNA Splicing and Gene Expression Changes that cause Congenital Myotonic Dystrophy

National Institutes of Health

Grant: 1U01NS124974-01A1

Trial Readiness and Endpoint Assessment in LGMDR1 (TREATing-LGMDR1)

National Institutes of Health

Grant: 1U01DD001242-01

Network for Observational Study of Virginia Muscular Dystrophies (NoVA MD)

FWCI

1.54

Citation Percentile

0.8%

Citation Trend

2024

2025

2026

hybridLicense: cc-by

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/dmcn.16079

journalhttps://doi.org/10.1111/dmcn.16079

repositoryhttps://pubmed.ncbi.nlm.nih.gov/39231278

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/11794672

repositoryhttps://hdl.handle.net/2434/1159527

Fields of Study

Genetic Neurodegenerative DiseasesBiochemical and Molecular ResearchParkinson's Disease and Spinal Disorders0303 health sciences03 medical and health sciences

MeSH Terms

AdolescentAdultChildDevelopmental DisabilitiesChild, PreschoolFemaleHumansInfantItalyMaleMyotonic DystrophyParentsAge of OnsetDelayed Diagnosis

Keywords

Myotonic dystrophyPediatricsMedicineOffspringGenetic counselingPregnancyInternal medicineMaleParentsAdultDelayed DiagnosisDevelopmental DisabilitiesInfantItalyChild, PreschoolHumansOriginal ArticleFemaleAge of OnsetChild

Sustainable Development Goals

SDG 0: Good health and well-being

Dataset related to article: PARENTAL DIAGNOSTIC DELAY AND DEVELOPMENTAL OUTCOMES IN CONGENITAL AND CHILDHOOD-ONSET MYOTONIC DYSTROPHY TYPE 1.

10.5281/zenodo.15007146Zenodo

Dataset related to article: PARENTAL DIAGNOSTIC DELAY AND DEVELOPMENTAL OUTCOMES IN CONGENITAL AND CHILDHOOD-ONSET MYOTONIC DYSTROPHY TYPE 1.

10.5281/zenodo.15007147Zenodo