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Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders

Journal of Neuromuscular Diseases(2024)10.3233/jnd-240014Source: DataRank Database

Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders is a research paper published in Journal of Neuromuscular Diseases (2024). On theSindex it has a DataRank of 0. It has been cited 9 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access9 citations

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Linked data & code

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (3 grants)Impact (FWCI 1.71)OA: hybridTopics (49)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 (4)

Meher Abdullah,Florian Eichler ORCID,Teresa Dunn ORCID,Payam Mohassel ORCID

Live enrichment

PubMed:38788085 PMC:PMC11307022 OpenAlex:https://openalex.org/W4398166829

National Institutes of Health

Grant: 3U54NS115052-03S1

Utility of advanced MRI and wearable technology to identify sensory motor outcome measures in leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)

National Institutes of Health

Grant: 5U01HG007530-03

Coordinating Center for the Undiagnosed Diseases Network

National Institutes of Health

Grant: 5U01HG007672-04

An integrated and diverse genomic medicine program for undiagnosed diseases

FWCI

1.71

Citation Percentile

0.8%

Citation Trend

2025

2026

hybridLicense: cc-by

journalhttps://content.iospress.com:443/download/journal-of-neuromuscular-diseases/jnd240014?id=journal-of-neuromuscular-diseases%2Fjnd240014

publisherhttps://content.iospress.com:443/download/journal-of-neuromuscular-diseases/jnd240014?id=journal-of-neuromuscular-diseases%2Fjnd240014

publisherhttps://journals.sagepub.com/doi/pdf/10.3233/JND-240014

publisherhttps://journals.sagepub.com/doi/full-xml/10.3233/JND-240014

journalhttps://doi.org/10.3233/jnd-240014

Fields of Study

Hereditary Neurological DisordersNeurogenetic and Muscular Disorders ResearchAmyotrophic Lateral Sclerosis Research0301 basic medicine0303 health sciences03 medical and health sciencesHumansAmyotrophic Lateral SclerosisHereditary Sensory and Autonomic NeuropathiesNeurodegenerative DiseasesNeurodevelopmental DisordersSerine C-PalmitoyltransferaseSpastic Paraplegia, HereditarySphingolipids

MeSH Terms

Amyotrophic Lateral SclerosisHumansHereditary Sensory and Autonomic NeuropathiesSphingolipidsSpastic Paraplegia, HereditaryNeurodegenerative DiseasesSerine C-PalmitoyltransferaseNeurodevelopmental Disorders

Keywords

Amyotrophic lateral sclerosisSphingolipidNeurodegenerationHereditary spastic paraplegiaNeuroscienceMedicineMotor neuronDiseaseBiologyMyelinPhenotypeCentral nervous systemSpinal cordPathologyGeneticsGeneSerine PalmitoyltransferaseHereditary Sensory And Autonomic NeuropathySphingolipid BiosynthesisSphingolipidsNeurodevelopmental DisordersSpastic Paraplegia, HereditarySerine C-PalmitoyltransferaseHumansNeurodegenerative DiseasesReviewHereditary Sensory and Autonomic Neuropathies

Sustainable Development Goals

SDG 0: Good health and well-being