Gotta F - Search Results

1

A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.

Geroldi A, Tozza S, Fiorillo C, Nolano M, Fossa P, Vitale F, Domi R, Gaudio A, Mammi A, Patrone S, Barbera A, Origone P, Ponti C, Sanguineri F, Zara F, Cataldi M, Salpietro V, Venturi CB, Massucco S, Schenone A, Manganelli F, Mandich P, Bellone E, Gotta F. Geroldi A, et al. Among authors: gotta f. J Peripher Nerv Syst. 2023 Dec;28(4):620-628. doi: 10.1111/jns.12602. Epub 2023 Nov 13. J Peripher Nerv Syst. 2023. PMID: 37897416

2

Quiz page February 2015: renal colic in an adolescent.

Piccoli GB, Cimmino MA, Lamp M, Gotta F, Vigotti FN, Priola AM, Veltri A, Mandich P. Piccoli GB, et al. Among authors: gotta f. Am J Kidney Dis. 2015 Feb;65(2):A17-9. doi: 10.1053/j.ajkd.2014.10.007. Am J Kidney Dis. 2015. PMID: 25616637 No abstract available.

3

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

4

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

5

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.

6

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

7

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.

8

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.

9

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

10

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

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