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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: scala s. Mol Neurodegener. 2021 Jun 21;16(1):35. doi: 10.1186/s13024-021-00455-2. Mol Neurodegener. 2021. PMID: 34148545 Free PMC article.
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants.
Ferese R, Campopiano R, Scala S, D'Alessio C, Storto M, Buttari F, Centonze D, Logroscino G, Zecca C, Zampatti S, Fornai F, Cianci V, Manfroi E, Giardina E, Magnani M, Suppa A, Novelli G, Gambardella S. Ferese R, et al. Among authors: scala s. Front Genet. 2021 Jul 19;12:682050. doi: 10.3389/fgene.2021.682050. eCollection 2021. Front Genet. 2021. PMID: 34354735 Free PMC article.
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).
Ferese R, Scala S, Suppa A, Campopiano R, Asci F, Chiaravalloti MA, Zampogna A, D'Alessio C, Fittipaldi F, Buttari F, Di Pardo A, Giardina E, Zampatti S, Fornai F, Novelli G, Fanelli M, Zecca C, Logroscino G, Centonze D, Gambardella S. Ferese R, et al. Among authors: scala s. Clin Genet. 2022 Aug;102(2):155-156. doi: 10.1111/cge.14142. Epub 2022 May 6. Clin Genet. 2022. PMID: 35524423
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease).
Ferese R, Albano V, Falconi M, Iacovelli F, Campopiano R, Scala S, Griguoli AM, Gaglione A, Giardina E, Zampatti S, Storto M, Fornai F, D'Alessio C, Novelli G, Gambardella S. Ferese R, et al. Among authors: scala s. Arch Ital Biol. 2017 Dec 1;155(4):118-130. doi: 10.12871/000398292017410. Arch Ital Biol. 2017. PMID: 29405036 No abstract available.
PCR-based approach for qualitative molecular analysis of six neurotropic pathogens.
Ferese R, Scorzolini L, Campopiano R, Albano V, Griguoli AM, Giardina E, Scala S, Ryskalin L, D'Alessio C, Zampatti S, Fantozzi R, Storto M, Fornai F, Gambardella S. Ferese R, et al. Among authors: scala s. Acta Virol. 2017;61(3):273-279. doi: 10.4149/av_2017_305. Acta Virol. 2017. PMID: 28854791
246 results