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Page 1
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
Neri M, Rossi R, Trabanelli C, Mauro A, Selvatici R, Falzarano MS, Spedicato N, Margutti A, Rimessi P, Fortunato F, Fabris M, Gualandi F, Comi G, Tedeschi S, Seia M, Fiorillo C, Traverso M, Bruno C, Giardina E, Piemontese MR, Merla G, Cau M, Marica M, Scuderi C, Borgione E, Tessa A, Astrea G, Santorelli FM, Merlini L, Mora M, Bernasconi P, Gibertini S, Sansone V, Mongini T, Berardinelli A, Pini A, Liguori R, Filosto M, Messina S, Vita G, Toscano A, Vita G, Pane M, Servidei S, Pegoraro E, Bello L, Travaglini L, Bertini E, D'Amico A, Ergoli M, Politano L, Torella A, Nigro V, Mercuri E, Ferlini A. Neri M, et al. Among authors: giardina e. Front Genet. 2020 Mar 3;11:131. doi: 10.3389/fgene.2020.00131. eCollection 2020. Front Genet. 2020. PMID: 32194622 Free PMC article.
Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD.
Cascella R, Strafella C, Caputo V, Galota RM, Errichiello V, Scutifero M, Petillo R, Marella GL, Arcangeli M, Colantoni L, Zampatti S, Ricci E, Deidda G, Politano L, Giardina E. Cascella R, et al. Among authors: giardina e. Front Neurol. 2018 Nov 28;9:1027. doi: 10.3389/fneur.2018.01027. eCollection 2018. Front Neurol. 2018. PMID: 30546343 Free PMC article.
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report.
Strafella C, Campoli G, Galota RM, Caputo V, Pagliaroli G, Carboni S, Zampatti S, Peconi C, Mela J, Sancricca C, Primiano G, Minozzi G, Servidei S, Cascella R, Giardina E. Strafella C, et al. Among authors: giardina e. Front Neurol. 2019 Jun 13;10:619. doi: 10.3389/fneur.2019.00619. eCollection 2019. Front Neurol. 2019. PMID: 31263448 Free PMC article.
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.
Strafella C, Caputo V, Galota RM, Campoli G, Bax C, Colantoni L, Minozzi G, Orsini C, Politano L, Tasca G, Novelli G, Ricci E, Giardina E, Cascella R. Strafella C, et al. Among authors: giardina e. Hum Mol Genet. 2019 Dec 1;28(23):3912-3920. doi: 10.1093/hmg/ddz239. Hum Mol Genet. 2019. PMID: 31600781 Free PMC article.
Genetic Counseling and NGS Screening for Recessive LGMD2A Families.
Strafella C, Caputo V, Campoli G, Galota RM, Mela J, Zampatti S, Minozzi G, Sancricca C, Servidei S, Giardina E, Cascella R. Strafella C, et al. Among authors: giardina e. High Throughput. 2020 May 10;9(2):13. doi: 10.3390/ht9020013. High Throughput. 2020. PMID: 32397577 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: giardina e. Front Genet. 2021 Jul 19;12:682050. doi: 10.3389/fgene.2021.682050. eCollection 2021. Front Genet. 2021. PMID: 34354735 Free PMC article.
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
Strafella C, Colantoni L, Megalizzi D, Trastulli G, Piorgo EP, Primiano G, Sancricca C, Ricci G, Siciliano G, Caltagirone C, Filosto M, Tasca G, Ricci E, Cascella R, Giardina E. Strafella C, et al. Among authors: giardina e. Clin Genet. 2024 Mar;105(3):335-339. doi: 10.1111/cge.14466. Epub 2023 Dec 2. Clin Genet. 2024. PMID: 38041579
DNA Methylation in the Diagnosis of Monogenic Diseases.
Cerrato F, Sparago A, Ariani F, Brugnoletti F, Calzari L, Coppedè F, De Luca A, Gervasini C, Giardina E, Gurrieri F, Lo Nigro C, Merla G, Miozzo M, Russo S, Sangiorgi E, Sirchia SM, Squeo GM, Tabano S, Tabolacci E, Torrente I, Genuardi M, Neri G, Riccio A. Cerrato F, et al. Among authors: giardina e. Genes (Basel). 2020 Mar 26;11(4):355. doi: 10.3390/genes11040355. Genes (Basel). 2020. PMID: 32224912 Free PMC article. Review.
Genetic Determinants Highlight the Existence of Shared Etiopathogenetic Mechanisms Characterizing Age-Related Macular Degeneration and Neurodegenerative Disorders.
Strafella C, Caputo V, Termine A, Fabrizio C, Ruffo P, Potenza S, Cusumano A, Ricci F, Caltagirone C, Giardina E, Cascella R. Strafella C, et al. Among authors: giardina e. Front Neurol. 2021 May 31;12:626066. doi: 10.3389/fneur.2021.626066. eCollection 2021. Front Neurol. 2021. PMID: 34135841 Free PMC article.
Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions.
Strafella C, Caputo V, Termine A, Assogna F, Pellicano C, Pontieri FE, Macchiusi L, Minozzi G, Gambardella S, Centonze D, Bossù P, Spalletta G, Caltagirone C, Giardina E, Cascella R. Strafella C, et al. Among authors: giardina e. Front Genet. 2021 Jun 3;12:651971. doi: 10.3389/fgene.2021.651971. eCollection 2021. Front Genet. 2021. PMID: 34149802 Free PMC article.
309 results