8761 - 8770 of 9038 Results
Title
Year
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OPENTitle: Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar DisordersJournal Name: GenesPublisher: MDPI AGVol: 14Issue #: 7Start Page: 1404End Page: 1404Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.3390/genes14071404Best OA location URL: https://www.mdpi.com/2073-4425/14/7/1404/pdf?version=1688622677Citation Count: 9
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OPENTitle: NIAGADS: A data repository for Alzheimer's disease and related dementia genomicsJournal Name: Alzheimer's & DementiaPublisher: WileyVol: 21Issue #: 6Start Page: e70255End Page: e70255Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-nd, cc-by-nc-ndDOI - Digital Object Identifier: 10.1002/alz.70255Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/alz.70255Citation Count: 5
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OPENTitle: Longitudinal decline in striatal dopamine transporter binding in Parkinson’s disease: associations with apathy and anhedoniaJournal Name: Journal of Neurology, Neurosurgery & PsychiatryPublisher: BMJVol: 94Issue #: 10Start Page: 863End Page: 870Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1136/jnnp-2022-330790Best OA location URL: https://jnnp.bmj.com/content/jnnp/early/2023/05/25/jnnp-2022-330790.full.pdfCitation Count: 25
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OPENTitle: Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomaliesJournal Name: Brain CommunicationsPublisher: Oxford University Press (OUP)Vol: 5Issue #: 5Start Page: fcad222End Page: fcad222Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1093/braincomms/fcad222Best OA location URL: https://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcad222/51119555/fcad222.pdfCitation Count: 6
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OPENTitle: Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathwayJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 148Issue #: 10Start Page: 3514End Page: 3522Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1093/brain/awaf202Best OA location URL: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awaf202/63419094/awaf202.pdfCitation Count: 3
- Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies2024OPENTitle: Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathiesJournal Name: Brain CommunicationsPublisher: Oxford University Press (OUP)Vol: 6Issue #: 4Start Page: fcae163End Page: fcae163Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1093/braincomms/fcae163Best OA location URL: https://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcae163/58040219/fcae163.pdfCitation Count: 2
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OPENTitle: The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral FounderJournal Name: Movement DisordersPublisher: WileyVol: 40Issue #: 2Start Page: 363End Page: 369Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1002/mds.30077Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.30077Citation Count: 5
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OPENTitle: ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsyJournal Name: Genetics in MedicinePublisher: Elsevier BVVol: 27Issue #: 9Start Page: 101506End Page: 101506Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1016/j.gim.2025.101506Best OA location URL: https://doi.org/10.1016/j.gim.2025.101506Citation Count: 2
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OPENTitle: Clinical and neuroradiological spectrum of biallelic variants in NOTCH3Journal Name: eBioMedicinePublisher: Elsevier BVVol: 107Issue #:Start Page: 105297End Page: 105297Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1016/j.ebiom.2024.105297Best OA location URL: https://doi.org/10.1016/j.ebiom.2024.105297Citation Count: 12
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OPENTitle: Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamicsJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 147Issue #: 5Start Page: 1751End Page: 1767Publication Date:Open Access(OA) Status: OPENLicense: public-domain, public-domainDOI - Digital Object Identifier: 10.1093/brain/awad427Best OA location URL: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad427/54752638/awad427.pdfCitation Count: 23