Gotta F - Search Results

1

Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.

Geroldi A, Ponti C, Mammi A, Patrone S, Gotta F, Trevisan L, Sanguineri F, Origone P, Gaudio A, La Barbera A, Cataldi M, Gemelli C, Massucco S, Schenone A, Lanteri P, Fiorillo C, Grandis M, Mandich P, Bellone E. Geroldi A, et al. Among authors: gotta f. Pediatr Neurol. 2024 May;154:4-8. doi: 10.1016/j.pediatrneurol.2024.02.002. Epub 2024 Feb 10. Pediatr Neurol. 2024. PMID: 38428336

2

Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results.

Mandich P, Mantero V, Verdiani S, Gotta F, Caponnetto C, Bellone E, Ferrandes G, Origone P. Mandich P, et al. Among authors: gotta f. J Genet Couns. 2015 Aug;24(4):553-7. doi: 10.1007/s10897-015-9831-y. Epub 2015 Apr 7. J Genet Couns. 2015. PMID: 25843563

3

Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance.

Geroldi A, Lastella P, Patruno M, Gotta F, Resta N, Devigili G, Sabbà C, Gulli R, Lamp M, Origone P, Mandich P, Bellone E. Geroldi A, et al. Among authors: gotta f. Neuromuscul Disord. 2017 Apr;27(4):377-381. doi: 10.1016/j.nmd.2017.01.010. Epub 2017 Jan 17. Neuromuscul Disord. 2017. PMID: 28215760

4

1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa.

Mandich P, Lamp M, Gotta F, Gulli R, Iacometti A, Marchese R, Bellone E, Abbruzzese G, Ferrandes G. Mandich P, et al. Among authors: gotta f. Mol Genet Genomic Med. 2017 Jun 17;5(5):473-480. doi: 10.1002/mgg3.238. eCollection 2017 Sep. Mol Genet Genomic Med. 2017. PMID: 28944231 Free PMC article.

5

Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients.

Lamp M, Origone P, Geroldi A, Verdiani S, Gotta F, Caponnetto C, Devigili G, Verriello L, Scialò C, Cabona C, Canosa A, Vanni I, Bellone E, Eleopra R, Mandich P. Lamp M, et al. Among authors: gotta f. Neurobiol Aging. 2018 Jun;66:179.e5-179.e16. doi: 10.1016/j.neurobiolaging.2018.01.013. Epub 2018 Feb 1. Neurobiol Aging. 2018. PMID: 29525178

6

Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier.

Origone P, Gotta F, Lamp M, Trevisan L, Geroldi A, Massucco D, Grazzini M, Massa F, Ticconi F, Bauckneht M, Marchese R, Abbruzzese G, Bellone E, Mandich P. Origone P, et al. Among authors: gotta f. Cerebellum Ataxias. 2018 Mar 14;5:7. doi: 10.1186/s40673-018-0086-x. eCollection 2018. Cerebellum Ataxias. 2018. PMID: 29564144 Free PMC article.

7

Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise".

Grandis M, Geroldi A, Gulli R, Manganelli F, Gotta F, Lamp M, Origone P, Trevisan L, Gemelli C, Fabbri S, Schenone A, Tozza S, Santoro L, Bellone E, Mandich P. Grandis M, et al. Among authors: gotta f. Orphanet J Rare Dis. 2018 Oct 4;13(1):177. doi: 10.1186/s13023-018-0917-0. Orphanet J Rare Dis. 2018. PMID: 30286783 Free PMC article.

8

Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients.

Origone P, Geroldi A, Lamp M, Sanguineri F, Caponnetto C, Cabona C, Gotta F, Trevisan L, Bellone E, Manganelli F, Devigili G, Mandich P. Origone P, et al. Among authors: gotta f. Neurodegener Dis. 2018;18(5-6):310-314. doi: 10.1159/000497820. Epub 2019 Mar 20. Neurodegener Dis. 2018. PMID: 30893702

9

A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

Gotta F, Lamp M, Geroldi A, Trevisan L, Origone P, Fugazza G, Fabbri S, Nesti C, Rubegni A, Morani F, Santorelli FM, Bellone E, Mandich P. Gotta F, et al. Ann Hum Genet. 2020 Sep;84(5):417-422. doi: 10.1111/ahg.12384. Epub 2020 Apr 12. Ann Hum Genet. 2020. PMID: 32281099

10

A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.

Ruscitti F, Trevisan L, Rosti G, Gotta F, Cianflone A, Geroldi A, Origone P, Pichiecchio A, Viglio S, Iascone M, Mandich P. Ruscitti F, et al. Among authors: gotta f. Mol Genet Genomic Med. 2021 Sep;9(9):e1753. doi: 10.1002/mgg3.1753. Epub 2021 Jul 28. Mol Genet Genomic Med. 2021. PMID: 34318601 Free PMC article.

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