Lastella P - Search Results

1

A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P.

Milella G, Amati A, Lastella P, Zanfardino P, Petruzzella V, Zoccolella S. Milella G, et al. Among authors: lastella p. Clin Neurol Neurosurg. 2024 Feb;237:108158. doi: 10.1016/j.clineuro.2024.108158. Epub 2024 Feb 3. Clin Neurol Neurosurg. 2024. PMID: 38330802

2

A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating Charcot-Marie-Tooth disease.

Citrigno L, Zoccolella S, Lastella P, Simone IL, Muglia M. Citrigno L, et al. Among authors: lastella p. Eur J Neurol. 2020 Oct;27(10):2109-2110. doi: 10.1111/ene.14362. Eur J Neurol. 2020. PMID: 32460404

3

Anticipation in lynch syndrome: where we are where we go.

Bozzao C, Lastella P, Stella A. Bozzao C, et al. Among authors: lastella p. Curr Genomics. 2011 Nov;12(7):451-65. doi: 10.2174/138920211797904070. Curr Genomics. 2011. PMID: 22547953 Free PMC article.

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: lastella p. 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

A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study.

Pierucci P, Lenato GM, Suppressa P, Lastella P, Triggiani V, Valerio R, Comelli M, Salvante D, Stella A, Resta N, Logroscino G, Resta F, Sabbà C. Pierucci P, et al. Among authors: lastella p. Orphanet J Rare Dis. 2012 Jun 7;7:33. doi: 10.1186/1750-1172-7-33. Orphanet J Rare Dis. 2012. PMID: 22676497 Free PMC article.

6

Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene.

Stella A, Lastella P, Viggiano L, Bagnulo R, Resta N. Stella A, et al. Among authors: lastella p. Hum Mutat. 2022 Oct;43(10):1354-1360. doi: 10.1002/humu.24423. Epub 2022 Jun 28. Hum Mutat. 2022. PMID: 35723633 Free PMC article.

7

Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation.

Lastella P, Patruno M, Forte G, Montanaro A, Di Gregorio C, Sabbà C, Suppressa P, Piepoli A, Panza A, Andriulli A, Resta N, Stella A. Lastella P, et al. Fam Cancer. 2011 Jun;10(2):285-95. doi: 10.1007/s10689-011-9419-0. Fam Cancer. 2011. PMID: 21286823

8

The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.

Laforgia N, De Cosmo L, Palumbo O, Ranieri C, Sesta M, Capodiferro D, Pantaleo A, Iapicca P, Lastella P, Capozza M, Schettini F, Bukvic N, Bagnulo R, Resta N. Laforgia N, et al. Among authors: lastella p. Genes (Basel). 2020 Dec 18;11(12):1519. doi: 10.3390/genes11121519. Genes (Basel). 2020. PMID: 33353066 Free PMC article.

9

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Mussa A, Leoni C, Iacoviello M, Carli D, Ranieri C, Pantaleo A, Buonuomo PS, Bagnulo R, Ferrero GB, Bartuli A, Melis D, Maitz S, Loconte DC, Turchiano A, Piglionica M, De Luisi A, Susca FC, Bukvic N, Forleo C, Selicorni A, Zampino G, Onesimo R, Cappuccio G, Garavelli L, Novelli C, Memo L, Morando C, Della Monica M, Accadia M, Capurso M, Piscopo C, Cereda A, Di Giacomo MC, Saletti V, Spinelli AM, Lastella P, Tenconi R, Dvorakova V, Irvine AD, Resta N. Mussa A, et al. Among authors: lastella p. J Med Genet. 2023 Feb;60(2):163-173. doi: 10.1136/jmedgenet-2021-108093. Epub 2022 Mar 7. J Med Genet. 2023. PMID: 35256403

10

Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review.

Falcicchio G, Riva A, La Neve A, Iacomino M, Lastella P, Suppressa P, Sciruicchio V, Trojano M, Striano P. Falcicchio G, et al. Among authors: lastella p. Front Genet. 2023 Jan 6;13:990350. doi: 10.3389/fgene.2022.990350. eCollection 2022. Front Genet. 2023. PMID: 36685914 Free PMC article.

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