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Whole Exome Sequencing Study of Parkinson Disease and Related Endophenotypes in the Italian Population.
Gialluisi A, Reccia MG, Tirozzi A, Nutile T, Lombardi A, De Sanctis C; International Parkinson's Disease Genomic Consortium (IPDGC); Varanese S, Pietracupa S, Modugno N, Simeone A, Ciullo M, Esposito T. Gialluisi A, et al. Among authors: esposito t. Front Neurol. 2020 Jan 10;10:1362. doi: 10.3389/fneur.2019.01362. eCollection 2019. Front Neurol. 2020. PMID: 31998221 Free PMC article.
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.
Sampaolo S, Napolitano F, Tirozzi A, Reccia MG, Lombardi L, Farina O, Barra A, Cirillo F, Melone MAB, Gianfrancesco F, Iorio GD, Esposito T. Sampaolo S, et al. Among authors: esposito t. J Med Genet. 2017 Oct;54(10):710-720. doi: 10.1136/jmedgenet-2017-104555. Epub 2017 Jul 22. J Med Genet. 2017. PMID: 28735299
Novel autophagic vacuolar myopathies: Phenotype and genotype features.
Napolitano F, Terracciano C, Bruno G, De Blasiis P, Lombardi L, Gialluisi A, Gianfrancesco F, De Giovanni D, Tummolo A, Di Iorio G, Limongelli G, Esposito T, Melone MAB, Sampaolo S. Napolitano F, et al. Among authors: esposito t. Neuropathol Appl Neurobiol. 2021 Aug;47(5):664-678. doi: 10.1111/nan.12690. Epub 2021 Feb 1. Neuropathol Appl Neurobiol. 2021. PMID: 33393119
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
Napolitano F, Bruno G, Terracciano C, Franzese G, Palomba NP, Scotto di Carlo F, Signoriello E, De Blasiis P, Navarro S, Gialluisi A, Melone MAB, Sampaolo S, Esposito T. Napolitano F, et al. Among authors: esposito t. Int J Mol Sci. 2021 Mar 31;22(7):3625. doi: 10.3390/ijms22073625. Int J Mol Sci. 2021. PMID: 33807278 Free PMC article.
Identification of sixteen novel candidate genes for late onset Parkinson's disease.
Gialluisi A, Reccia MG, Modugno N, Nutile T, Lombardi A, Di Giovannantonio LG, Pietracupa S, Ruggiero D, Scala S, Gambardella S; International Parkinson’s Disease Genomics Consortium (IPDGC); Iacoviello L, Gianfrancesco F, Acampora D, D'Esposito M, Simeone A, Ciullo M, Esposito T. Gialluisi A, et al. Among authors: esposito t. Mol Neurodegener. 2021 Jun 21;16(1):35. doi: 10.1186/s13024-021-00455-2. Mol Neurodegener. 2021. PMID: 34148545 Free PMC article.
Exome-wide association study of levodopa-induced dyskinesia in Parkinson's disease.
König E, Nicoletti A, Pattaro C, Annesi G, Melotti R, Gialluisi A, Schwienbacher C, Picard A, Blankenburg H, Pichler I, Modugno N, Ciullo M, Esposito T, Domingues FS, Hicks AA, Zappia M, Pramstaller PP. König E, et al. Among authors: esposito t. Sci Rep. 2021 Oct 1;11(1):19582. doi: 10.1038/s41598-021-99393-8. Sci Rep. 2021. PMID: 34599261 Free PMC article.
Common and Rare Variants in TMEM175 Gene Concur to the Pathogenesis of Parkinson's Disease in Italian Patients.
Palomba NP, Fortunato G, Pepe G, Modugno N, Pietracupa S, Damiano I, Mascio G, Carrillo F, Di Giovannantonio LG, Ianiro L, Martinello K, Volpato V, Desiato V, Acri R, Storto M, Nicoletti F, Webber C, Simeone A, Fucile S, Maglione V, Esposito T. Palomba NP, et al. Among authors: esposito t. Mol Neurobiol. 2023 Apr;60(4):2150-2173. doi: 10.1007/s12035-022-03203-9. Epub 2023 Jan 7. Mol Neurobiol. 2023. PMID: 36609826 Free PMC article.
321 results