Bosco L - Search Results

1

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy.

Bosco L, Leone D, Costa Comellas L, Monforte M, Pane M, Mercuri E, Bertini E, D'Amico A, Fattori F. Bosco L, et al. Int J Mol Sci. 2022 Sep 7;23(18):10274. doi: 10.3390/ijms231810274. Int J Mol Sci. 2022. PMID: 36142184 Free PMC article.

2

A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder.

Graziola F, Stregapede F, Travaglini L, Garone G, Verardo M, Bosco L, Pro S, Bertini E, Curatolo P, Vigevano F, Capuano A. Graziola F, et al. Among authors: bosco l. Parkinsonism Relat Disord. 2019 Apr;61:4-6. doi: 10.1016/j.parkreldis.2018.12.001. Epub 2018 Dec 7. Parkinsonism Relat Disord. 2019. PMID: 30579817 No abstract available.

3

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.

Stregapede F, Travaglini L, Rebelo AP, Cintra VP, Bellacchio E, Bosco L, Alfieri P, Pro S, Zuchner S, Bertini E, Nicita F. Stregapede F, et al. Among authors: bosco l. Clin Genet. 2020 Mar;97(3):521-526. doi: 10.1111/cge.13668. Epub 2019 Dec 5. Clin Genet. 2020. PMID: 31705535

4

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.

Graziola F, Garone G, Stregapede F, Bosco L, Vigevano F, Curatolo P, Bertini E, Travaglini L, Capuano A. Graziola F, et al. Among authors: bosco l. Front Genet. 2019 Oct 29;10:1026. doi: 10.3389/fgene.2019.01026. eCollection 2019. Front Genet. 2019. PMID: 31737037 Free PMC article.

5

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.

Nicita F, Ginevrino M, Travaglini L, D'Arrigo S, Zorzi G, Borgatti R, Terrone G, Catteruccia M, Vasco G, Brankovic V, Siliquini S, Romano S, Veredice C, Pedemonte M, Armando M, Lettori D, Stregapede F, Bosco L, Sferra A, Tessarollo V, Romaniello R, Ristori G, Bertini E, Valente EM, Zanni G. Nicita F, et al. Among authors: bosco l. J Med Genet. 2021 Jul;58(7):475-483. doi: 10.1136/jmedgenet-2020-107007. Epub 2020 Jul 31. J Med Genet. 2021. PMID: 32737135

6

Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K_V4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.

Zanni G, Hsiao CT, Fu SJ, Tang CY, Capuano A, Bosco L, Graziola F, Bellacchio E, Servidei S, Primiano G, Soong BW, Jeng CJ. Zanni G, et al. Among authors: bosco l. Int J Mol Sci. 2021 May 7;22(9):4986. doi: 10.3390/ijms22094986. Int J Mol Sci. 2021. PMID: 34067185 Free PMC article.

7

Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.

Nuovo S, Micalizzi A, Romaniello R, Arrigoni F, Ginevrino M, Casella A, Serpieri V, D'Arrigo S, Briguglio M, Salerno GG, Rossato S, Sartori S, Leuzzi V, Battini R, Ben-Zeev B, Graziano C, Mirabelli Badenier M, Brankovic V, Nardocci N, Spiegel R, Petković Ramadža D, Vento G, Marti I, Simonati A, Dipresa S, Freri E, Mazza T, Bassi MT, Bosco L, Travaglini L, Zanni G, Bertini ES, Vanacore N, Borgatti R, Valente EM. Nuovo S, et al. Among authors: bosco l. J Med Genet. 2022 Apr;59(4):399-409. doi: 10.1136/jmedgenet-2020-107497. Epub 2021 Mar 5. J Med Genet. 2022. PMID: 34085948

8

Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies.

D'Amico A, Longo A, Fattori F, Tosi M, Bosco L, Chiarini Testa MB, Paglietti MG, Cherchi C, Carlesi A, Mizzoni I, Bertini E. D'Amico A, et al. Among authors: bosco l. Orphanet J Rare Dis. 2021 Oct 12;16(1):425. doi: 10.1186/s13023-021-02055-1. Orphanet J Rare Dis. 2021. PMID: 34641930 Free PMC article.

9

Correction to: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies.

D'Amico A, Longo A, Fattori F, Tosi M, Bosco L, Testa MBC, Paglietti MG, Cherchi C, Carlesi A, Mizzoni I, Bertini E. D'Amico A, et al. Among authors: bosco l. Orphanet J Rare Dis. 2022 Jan 17;17(1):18. doi: 10.1186/s13023-021-02171-y. Orphanet J Rare Dis. 2022. PMID: 35039067 Free PMC article. No abstract available.

10

Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature.

De Rose DU, Ronci S, Caoci S, Maddaloni C, Diodato D, Catteruccia M, Fattori F, Bosco L, Pro S, Savarese I, Bersani I, Randi F, Trozzi M, Meucci D, Calzolari F, Salvatori G, Solinas A, Dotta A, Campi F. De Rose DU, et al. Among authors: bosco l. J Pers Med. 2023 May 6;13(5):798. doi: 10.3390/jpm13050798. J Pers Med. 2023. PMID: 37240968 Free PMC article. Review.

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