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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. Front Genet. 2021 Jul 19;12:682050. doi: 10.3389/fgene.2021.682050. eCollection 2021. Front Genet. 2021. PMID: 34354735 Free PMC article.
A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers.
Campopiano R, Femiano C, Chiaravalloti MA, Ferese R, Centonze D, Buttari F, Zampatti S, Fanelli M, Amatori S, D'Alessio C, Giardina E, Fornai F, Biagioni F, Storto M, Gambardella S. Campopiano R, et al. Genes (Basel). 2021 May 19;12(5):775. doi: 10.3390/genes12050775. Genes (Basel). 2021. PMID: 34069712 Free PMC article. Clinical Trial.
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: d alessio c. 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. Arch Ital Biol. 2017 Dec 1;155(4):118-130. doi: 10.12871/000398292017410. Arch Ital Biol. 2017. PMID: 29405036 No abstract available.
64 results