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Characterization of the Metabolic, Clinical and Neuropsychological Phenotype of Female Carriers of the Premutation in the X-Linked FMR1 Gene

Frontiers in Molecular Biosciences(2020)10.3389/fmolb.2020.578640Source: DataRank Database

Characterization of the Metabolic, Clinical and Neuropsychological Phenotype of Female Carriers of the Premutation in the X-Linked FMR1 Gene is a research paper published in Frontiers in Molecular Biosciences (2020). On theSindex it has a DataRank of 0. It has been cited 17 times.

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Open Access17 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (3 grants)OA: goldTopics (60)IDs (PubMed)SDGs (1)

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Open Access

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Reusable (0/3)

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Authors (6)

Yingratana McLennan ORCID,Andrea Schneider ORCID,Flora Tassone ORCID,Randi J. Hagerman ORCID,Cecilia Giulivi ORCID

Live enrichment

PubMed:33195422

National Institutes of Health

Grant: 3U54HD079125-05S1

MIND Institute Intellectual and Developmental Disabilities Research Center

National Institutes of Health

Grant: 5UL1TR001860-10

UC Davis Clinical and Translational Science Center

National Institutes of Health

Grant: 5R01HD036071-26

Genotype-Phenotype Relationships in Fragile X Families

goldLicense: CC BY

https://doi.org/10.3389/fmolb.2020.578640

https://www.frontiersin.org/articles/10.3389/fmolb.2020.578640/pdf

https://dx.doi.org/10.26181/13559543.v1

https://dx.doi.org/10.26181/60109eef0ea47

https://dx.doi.org/10.26181/13559543

Fields of Study

0301 basic medicine0303 health sciences03 medical and health sciences

Keywords

TREMOR/ATAXIA SYNDROMEWomen's Health (rcdc)NeurodegenerativePREMATURE OVARIAN FAILUREFragile X Syndrome (rcdc)Brain Disorders (rcdc)2.1 Biological and endogenous factorsIntellectual and Developmental Disabilities (IDD) (rcdc)Molecular BiosciencesBiology (General)32 Biomedical and Clinical Sciences (for-2020)3101 Biochemistry and cell biology (for-2020)Neurosciences (rcdc)Neurodegenerative (rcdc)UncategorizedMITOCHONDRIAL-DNA MUTATIONSGLUCOSE-METABOLISMglycolysisomicsALZHEIMERS-DISEASEMental HealthNeurologicalSKELETAL-MUSCLELife Sciences & BiomedicineFRAGILE-Xcellular response to stressfragile X-associated primary ovarian insufficiencyMental Health (rcdc)Biochemistry & Molecular Biology570QH301-705.5Intellectual and Developmental Disabilities (IDD)Clinical Sciencesoxidative phosphorylation610UBIQUITIN-PROTEASOME SYSTEMRare Diseases (rcdc)Rare Diseasesmitochondrial dysfunctionGeneticsfragile X-associated tremor and ataxia syndromeMedical biochemistry and metabolomics3202 Clinical Sciences (for-2020)Science & TechnologyEXPANDED ALLELESBiomedical and Clinical SciencesGenetics (rcdc)Neurological (hrcs-hc)NeurosciencesRESPIRATORY-CHAIN ACTIVITY2.1 Biological and endogenous factors (hrcs-rac)Brain DisordersMental health (hrcs-hc)Fragile X SyndromeBiochemistry and cell biologyWomen's Health3205 Medical biochemistry and metabolomics (for-2020)

Sustainable Development Goals

SDG 3: 3. Good health