Calabrese O - Search Results

1

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.

Fichera M, Lo Giudice M, Falco M, Sturnio M, Amata S, Calabrese O, Bigoni S, Calzolari E, Neri M. Fichera M, et al. Among authors: calabrese o. Neurology. 2004 Sep 28;63(6):1108-10. doi: 10.1212/01.wnl.0000138731.60693.d2. Neurology. 2004. PMID: 15452312 Review.

2

Mole maker phenotype: possible narrowing of the candidate region.

Sensi A, Gualandi F, Pittalis MC, Calabrese O, Falciano F, Maestri I, Bovicelli L, Calzolari E. Sensi A, et al. Among authors: calabrese o. Eur J Hum Genet. 2000 Aug;8(8):641-4. doi: 10.1038/sj.ejhg.5200501. Eur J Hum Genet. 2000. PMID: 10951527

3

Prenatal exclusion of UPD from cytogenetic slides: a simple method.

Gualandi F, Sensi A, Calabrese O, Gruppioni R, Pittalis MC, Calzolari E. Gualandi F, et al. Among authors: calabrese o. Prenat Diagn. 1999 Jan;19(1):87-8. Prenat Diagn. 1999. PMID: 10073917 No abstract available.

4

Age and sex prevalence estimate of Joubert syndrome in Italy.

Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group. Nuovo S, et al. Neurology. 2020 Feb 25;94(8):e797-e801. doi: 10.1212/WNL.0000000000008996. Epub 2020 Jan 22. Neurology. 2020. PMID: 31969461 Free PMC article.

5

Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG".

Lugli L, Pollazzon M, Bigoni S, Caraffi SG, Ferlini A, Ferri L, Morrone A, Calabrese O, Iughetti L, Garavelli L, Berardi A. Lugli L, et al. Among authors: calabrese o. Am J Med Genet A. 2022 Jan;188(1):382-383. doi: 10.1002/ajmg.a.62511. Epub 2021 Sep 25. Am J Med Genet A. 2022. PMID: 34562059 No abstract available.

6

Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study.

Godino L, Ambrosini E, Barili V, Graziano C, Garavelli L, Calabrese O, Neri M, Sangiorgi L, Bertonazzi B, Innella G, Turchetti D, Percesepe A. Godino L, et al. Among authors: calabrese o. J Community Genet. 2025 Jan 11. doi: 10.1007/s12687-024-00750-7. Online ahead of print. J Community Genet. 2025. PMID: 39797934

7

Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.

De Michele G, Filla A, Cavalcanti F, Di Maio L, Pianese L, Castaldo I, Calabrese O, Monticelli A, Varrone S, Campanella G, et al. De Michele G, et al. Among authors: calabrese o. J Neurol Neurosurg Psychiatry. 1994 Aug;57(8):977-9. doi: 10.1136/jnnp.57.8.977. J Neurol Neurosurg Psychiatry. 1994. PMID: 8057123 Free PMC article.

8

Prenatal genetic counseling referrals for advanced maternal age: still room for improvement.

Pompilii E, Astolfi G, Calabrese O, Calzolari E, Ferlini A, Lucci M, Parmeggiani G, Seri M, Baroncini A. Pompilii E, et al. Among authors: calabrese o. Prenat Diagn. 2014 Jan;34(1):71-4. doi: 10.1002/pd.4257. Prenat Diagn. 2014. PMID: 24166136

9

Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families.

Filla A, De Michele G, Santoro L, Calabrese O, Castaldo I, Giuffrida S, Restivo D, Serlenga L, Condorelli DF, Bonuccelli U, Scala R, Coppola G, Caruso G, Cocozza S. Filla A, et al. Among authors: calabrese o. J Neurol. 1999 Jun;246(6):467-71. doi: 10.1007/s004150050385. J Neurol. 1999. PMID: 10431773

10

Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families.

Filla A, Mariotti C, Caruso G, Coppola G, Cocozza S, Castaldo I, Calabrese O, Salvatore E, De Michele G, Riggio MC, Pareyson D, Gellera C, Di Donato S. Filla A, et al. Among authors: calabrese o. Eur Neurol. 2000;44(1):31-6. doi: 10.1159/000008189. Eur Neurol. 2000. PMID: 10894992

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