Valente EM - Search Results

1

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MC, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MT, Pezzoli G, Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B, Dallapiccola B, Bentivoglio AR, Valente EM; Italian PD Study Group. Marongiu R, et al. Among authors: valente em. Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20719. Hum Mutat. 2008. PMID: 18330912 Free article.

2

Italian family with cranial cervical dystonia: clinical and genetic study.

Cassetta E, Del Grosso N, Bentivoglio AR, Valente EM, Frontali M, Albanese A. Cassetta E, et al. Among authors: valente em. Mov Disord. 1999 Sep;14(5):820-5. doi: 10.1002/1531-8257(199909)14:5<820::aid-mds1015>3.0.co;2-i. Mov Disord. 1999. PMID: 10495044

3

Phenotype variability of dystonia in monozygotic twins.

Albanese A, Bentivoglio AR, Del Grosso N, Cassetta E, Frontali M, Valente EM, Tonali P. Albanese A, et al. Among authors: valente em. J Neurol. 2000 Feb;247(2):148-50. doi: 10.1007/s004150050035. J Neurol. 2000. PMID: 10751123 No abstract available.

4

Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36.

Valente EM, Bentivoglio AR, Dixon PH, Ferraris A, Ialongo T, Frontali M, Albanese A, Wood NW. Valente EM, et al. Am J Hum Genet. 2001 Apr;68(4):895-900. doi: 10.1086/319522. Epub 2001 Mar 7. Am J Hum Genet. 2001. PMID: 11254447 Free PMC article.

5

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset.

Valente EM, Bentivoglio AR, Cassetta E, Dixon PH, Davis MB, Ferraris A, Ialongo T, Frontali M, Wood NW, Albanese A. Valente EM, et al. Ann Neurol. 2001 Mar;49(3):362-6. Ann Neurol. 2001. PMID: 11261511

6

Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset.

Valente EM, Bentivoglio AR, Cassetta E, Dixon PH, Davis MB, Ferraris A, Ialongo T, Frontali M, Wood NW, Albanese A. Valente EM, et al. Neurol Sci. 2001 Feb;22(1):95-6. doi: 10.1007/s100720170063. Neurol Sci. 2001. PMID: 11487218

7

Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families.

Bentivoglio AR, Cortelli P, Valente EM, Ialongo T, Ferraris A, Elia A, Montagna P, Albanese A. Bentivoglio AR, et al. Among authors: valente em. Mov Disord. 2001 Nov;16(6):999-1006. doi: 10.1002/mds.10034. Mov Disord. 2001. PMID: 11748730

8

PARK6-linked parkinsonism occurs in several European families.

Valente EM, Brancati F, Ferraris A, Graham EA, Davis MB, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Wassilowsky D, Harhangi BS, Rawal N, Caputo V, Filla A, Meco G, Oostra BA, Brice A, Albanese A, Dallapiccola B, Wood NW; European Consortium on Genetic Susceptibility in Parkinson's Disease. Valente EM, et al. Ann Neurol. 2002 Jan;51(1):14-8. Ann Neurol. 2002. PMID: 11782979

9

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.

Brancati F, Defazio G, Caputo V, Valente EM, Pizzuti A, Livrea P, Berardelli A, Dallapiccola B. Brancati F, et al. Among authors: valente em. Mov Disord. 2002 Mar;17(2):392-7. doi: 10.1002/mds.10077. Mov Disord. 2002. PMID: 11921130

10

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34.

Valente EM, Brancati F, Caputo V, Bertini E, Patrono C, Costanti D, Dallapiccola B. Valente EM, et al. Ann Neurol. 2002 Jun;51(6):681-5. doi: 10.1002/ana.10204. Ann Neurol. 2002. PMID: 12112072

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