Straniero L - Search Results

1

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

Rimoldi V, Straniero L, Asselta R, Mauri L, Manfredini E, Penco S, Gesu GP, Del Longo A, Piozzi E, Soldà G, Primignani P. Rimoldi V, et al. Among authors: straniero l. Gene. 2014 Mar 1;537(1):79-84. doi: 10.1016/j.gene.2013.11.102. Epub 2013 Dec 18. Gene. 2014. PMID: 24361966

2

Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.

Straniero L, Rimoldi V, Soldà G, Mauri L, Manfredini E, Andreucci E, Bargiacchi S, Penco S, Gesu GP, Del Longo A, Piozzi E, Asselta R, Primignani P. Straniero L, et al. J Hum Genet. 2015 Sep;60(9):467-71. doi: 10.1038/jhg.2015.56. Epub 2015 May 28. J Hum Genet. 2015. PMID: 26016411

3

Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.

Straniero L, Soldà G, Costantino L, Seia M, Melotti P, Colombo C, Asselta R, Duga S. Straniero L, et al. J Hum Genet. 2016 Dec;61(12):977-984. doi: 10.1038/jhg.2016.101. Epub 2016 Aug 4. J Hum Genet. 2016. PMID: 27488443

4

DNAJC12 and dopa-responsive nonprogressive parkinsonism.

Straniero L, Guella I, Cilia R, Parkkinen L, Rimoldi V, Young A, Asselta R, Soldà G, Sossi V, Stoessl AJ, Priori A, Nishioka K, Hattori N, Follett J, Rajput A, Blau N, Pezzoli G, Farrer MJ, Goldwurm S, Rajput AH, Duga S. Straniero L, et al. Ann Neurol. 2017 Oct;82(4):640-646. doi: 10.1002/ana.25048. Epub 2017 Oct 11. Ann Neurol. 2017. PMID: 28892570

5

The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p.

Straniero L, Rimoldi V, Samarani M, Goldwurm S, Di Fonzo A, Krüger R, Deleidi M, Aureli M, Soldà G, Duga S, Asselta R. Straniero L, et al. Sci Rep. 2017 Oct 5;7(1):12702. doi: 10.1038/s41598-017-12973-5. Sci Rep. 2017. PMID: 28983119 Free PMC article.

6

A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest.

Samarani M, Loberto N, Soldà G, Straniero L, Asselta R, Duga S, Lunghi G, Zucca FA, Mauri L, Ciampa MG, Schiumarini D, Bassi R, Giussani P, Chiricozzi E, Prinetti A, Aureli M, Sonnino S. Samarani M, et al. Among authors: straniero l. FASEB J. 2018 Oct;32(10):5685-5702. doi: 10.1096/fj.201701512RR. Epub 2018 May 10. FASEB J. 2018. PMID: 29746165 Free PMC article.

-Samarani, M., Loberto, N., Solda, G., Straniero, L., Asselta, R., Duga, S., Lunghi, G., Zucca, F. A., Mauri, L., Ciampa, M. G., Schiumarini, D., Bassi, R., Giussani, P., Chiricozzi, E., Prinetti, A., Aureli, M., Sonnino, S. ...

-Samarani, M., Loberto, N., Solda, G., Straniero, L., Asselta, R., Duga, S., Lunghi, G., Zucca, F. A., Mauri, L., Ciamp …

7

First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features.

Straniero L, Rimoldi V, Soldà G, Bellini M, Biasucci G, Asselta R, Duga S. Straniero L, et al. Front Genet. 2018 Oct 10;9:464. doi: 10.3389/fgene.2018.00464. eCollection 2018. Front Genet. 2018. PMID: 30364145 Free PMC article.

8

Saposin D variants are not a common cause of familial Parkinson's disease among Italians.

Facchi D, Rimoldi V, Straniero L, Paraboschi EM, Soldà G, Zecchinelli AL, Cilia R, Duga S, Pezzoli G, Asselta R. Facchi D, et al. Among authors: straniero l. Brain. 2020 Sep 1;143(9):e71. doi: 10.1093/brain/awaa213. Brain. 2020. PMID: 32793950 No abstract available.

9

A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants.

Straniero L, Rimoldi V, Melistaccio G, Di Fonzo A, Pezzoli G, Duga S, Asselta R. Straniero L, et al. Parkinsonism Relat Disord. 2020 Nov;80:138-141. doi: 10.1016/j.parkreldis.2020.09.036. Epub 2020 Sep 22. Parkinsonism Relat Disord. 2020. PMID: 32987361

10

The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD.

Straniero L, Asselta R, Bonvegna S, Rimoldi V, Melistaccio G, Soldà G, Aureli M, Della Porta M, Lucca U, Di Fonzo A, Zecchinelli A, Pezzoli G, Cilia R, Duga S. Straniero L, et al. Neurol Genet. 2020 Oct 20;6(6):e523. doi: 10.1212/NXG.0000000000000523. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33209983 Free PMC article.

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