Valente EM - Search Results

1

Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models.

Petrucci S, Ginevrino M, Valente EM. Petrucci S, et al. Among authors: valente em. Parkinsonism Relat Disord. 2016 Jan;22 Suppl 1:S16-20. doi: 10.1016/j.parkreldis.2015.08.015. Epub 2015 Aug 18. Parkinsonism Relat Disord. 2016. PMID: 26341711 Review.

2

PINK1 mutations are associated with sporadic early-onset parkinsonism.

Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, Romito L, Albanese A, Dallapiccola B, Bentivoglio AR. Valente EM, et al. Ann Neurol. 2004 Sep;56(3):336-41. doi: 10.1002/ana.20256. Ann Neurol. 2004. PMID: 15349860

3

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.

Marongiu R, Brancati F, Antonini A, Ialongo T, Ceccarini C, Scarciolla O, Capalbo A, Benti R, Pezzoli G, Dallapiccola B, Goldwurm S, Valente EM. Marongiu R, et al. Among authors: valente em. Hum Mutat. 2007 Jan;28(1):98. doi: 10.1002/humu.9472. Hum Mutat. 2007. PMID: 17154281

4

Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study.

Gelmetti V, Ferraris A, Brusa L, Romano F, Lombardi F, Barzaghi C, Stanzione P, Garavaglia B, Dallapiccola B, Valente EM. Gelmetti V, et al. Among authors: valente em. Mov Disord. 2008 Apr 30;23(6):881-5. doi: 10.1002/mds.21960. Mov Disord. 2008. PMID: 18307263

5

Molecular pathways in sporadic PD.

Valente EM, Arena G, Torosantucci L, Gelmetti V. Valente EM, et al. Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1:S71-3. doi: 10.1016/S1353-8020(11)70023-2. Parkinsonism Relat Disord. 2012. PMID: 22166460 Review.

6

Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease.

Stefani A, Marzetti F, Pierantozzi M, Petrucci S, Olivola E, Galati S, Bassi MS, Imbriani P, Valente EM, Pastore FS. Stefani A, et al. Among authors: valente em. Neurol Sci. 2013 Mar;34(3):383-6. doi: 10.1007/s10072-012-1014-0. Epub 2012 Mar 22. Neurol Sci. 2013. PMID: 22437494

7

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Among authors: valente em. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.

8

Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies.

Onofrj M, Varanese S, Bonanni L, Taylor JP, Antonini A, Valente EM, Petrucci S, Stocchi F, Thomas A, Perfetti B. Onofrj M, et al. Among authors: valente em. J Neurol. 2013 Jul;260(7):1731-42. doi: 10.1007/s00415-013-6853-y. Epub 2013 Feb 12. J Neurol. 2013. PMID: 23400498 Free PMC article.

9

Novel genes and novel pathogenetic mechanisms in adult-onset primary dystonia.

Petrucci S, Valente EM. Petrucci S, et al. Among authors: valente em. Mov Disord. 2013 Apr;28(4):440. doi: 10.1002/mds.25412. Mov Disord. 2013. PMID: 23568843 No abstract available.

10

Genetic issues in the diagnosis of dystonias.

Petrucci S, Valente EM. Petrucci S, et al. Among authors: valente em. Front Neurol. 2013 Apr 10;4:34. doi: 10.3389/fneur.2013.00034. eCollection 2013. Front Neurol. 2013. PMID: 23596437 Free PMC article.

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