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Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families

Neurogenetics(2024)10.1007/s10048-024-00745-zSource: DataRank Database

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families is a research paper published in Neurogenetics (2024). On theSindex it has a DataRank of 0. It has been cited 4 times.

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Open Access4 citations

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Enrichment:Funding (3 grants)Impact (FWCI 0.64)OA: hybridTopics (65)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (6)

Kyle P. Flannery,Ahmed A. El Beheiry,Mohamed Mokhtar ORCID,Ebtesam Abdalla ORCID,M. Chiara Manzini ORCID

Live enrichment

PubMed:38296890 PMC:PMC11076401 OpenAlex:https://openalex.org/W4391446400

Robert Wood Johnson Foundation

Grant: 74260

NINDS NIH HHS

Grant: R01 NS109149

Ministry of Higher Education, Egypt

FWCI

0.64

Citation Percentile

0.6%

Citation Trend

2024

2025

hybridLicense: cc-by

journalhttps://link.springer.com/content/pdf/10.1007/s10048-024-00745-z.pdf

publisherhttps://link.springer.com/content/pdf/10.1007/s10048-024-00745-z.pdf

journalhttps://doi.org/10.1007/s10048-024-00745-z

repositoryhttps://pubmed.ncbi.nlm.nih.gov/38296890

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/11076401

Fields of Study

Muscle Physiology and DisordersRNA modifications and cancerCongenital heart defects researchHumansMaleEgyptFemaleMuscular DystrophiesExome SequencingChild, PreschoolBrainChildInfantLamininReceptors, VirusMannosyltransferasesPedigreePentosyltransferasesDNA Copy Number VariationsMutationAdolescentNervous System MalformationsN-AcetylglucosaminyltransferasesMuscular dystrophy congenital, merosin negative

MeSH Terms

Exome SequencingAdolescentBrainChildChild, PreschoolEgyptFemaleHumansInfantLamininMaleMannosyltransferasesMuscular DystrophiesMutationNervous System MalformationsPedigreePentosyltransferasesReceptors, VirusN-AcetylglucosaminyltransferasesDNA Copy Number Variations

Keywords

Exome sequencingCongenital muscular dystrophyLoss functionGenetic counselingGenetic testingPopulationPediatricsGenetic heterogeneityIntellectual disabilityGeneticsExomeMedical geneticsMedicineBiologyMuscular dystrophyMutationPhenotypeHydrocephalusLissencephalyDystroglycanopathyFlvcr1

Sustainable Development Goals

SDG 0: Partnerships for the goals

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families

FAIR Checklist

Authors (6)

Funding (3 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)