Bosco L - Search Results

1

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

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

NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor.

Riso V, Rossi S, Perna A, Nicoletti T, Bosco L, Zanni G, Silvestri G. Riso V, et al. Among authors: bosco l. Neurol Sci. 2020 Oct;41(10):2989-2991. doi: 10.1007/s10072-020-04443-0. Epub 2020 May 5. Neurol Sci. 2020. PMID: 32367327 No abstract available.

6

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

7

Clinical phenotypes of infantile onset CACNA1A-related disorder.

Gur-Hartman T, Berkowitz O, Yosovich K, Roubertie A, Zanni G, Macaya A, Heimer G, Dueñas BP, Sival DA, Pode-Shakked B, López-Laso E, Humbertclaude V, Riant F, Bosco L, Cayron LB, Nissenkorn A, Nicita F, Bertini E, Hassin S, Ben Zeev B, Zerem A, Libzon S, Lev D, Linder I, Lerman-Sagie T, Blumkin L. Gur-Hartman T, et al. Among authors: bosco l. Eur J Paediatr Neurol. 2021 Jan;30:144-154. doi: 10.1016/j.ejpn.2020.10.004. Epub 2020 Oct 20. Eur J Paediatr Neurol. 2021. PMID: 33349592

8

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.

9

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.

10

Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene.

Perna A, Bosco L, Fattori F, Torchia E, Modoni A, Papacci M, Petrucci A, Tasca G, Ricci E, Bertini ES, Silvestri G. Perna A, et al. Among authors: bosco l. Neuromuscul Disord. 2024 Apr;37:1-5. doi: 10.1016/j.nmd.2024.02.001. Epub 2024 Feb 8. Neuromuscul Disord. 2024. PMID: 38430701

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