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Results: 16

1.

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.

Ramos EM, Latourelle JC, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Gellera C, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME.

Neurogenetics. 2013 Nov;14(3-4):173-9. doi: 10.1007/s10048-013-0364-y. Epub 2013 May 4.

PMID:
23644918
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Plasma 24S-hydroxycholesterol correlation with markers of Huntington disease progression.

Leoni V, Long JD, Mills JA, Di Donato S, Paulsen JS; PREDICT-HD study group.

Neurobiol Dis. 2013 Jul;55:37-43. doi: 10.1016/j.nbd.2013.03.013. Epub 2013 Apr 1.

PMID:
23557875
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Sudden death as presenting symptom caused by cardiac primary multicentric left ventricle rhabdomyoma, in an 11-month-old baby. An immunohistochemical study.

Neri M, Di Donato S, Maglietta R, Pomara C, Riezzo I, Turillazzi E, Fineschi V.

Diagn Pathol. 2012 Dec 3;7:169. doi: 10.1186/1746-1596-7-169.

PMID:
23206573
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Pitfalls in the detection of cholesterol in Huntington's disease models.

Marullo M, Valenza M, Leoni V, Caccia C, Scarlatti C, De Mario A, Zuccato C, Di Donato S, Carafoli E, Cattaneo E.

PLoS Curr. 2012 Oct 11;4:e505886e9a1968. doi: 10.1371/505886e9a1968.

PMID:
23145355
[PubMed]
Free PMC Article
5.

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.

Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME.

Hum Genet. 2012 Dec;131(12):1833-40. doi: 10.1007/s00439-012-1205-z. Epub 2012 Jul 25.

PMID:
22825315
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

Lee JM, Gillis T, Mysore JS, Ramos EM, Myers RH, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Griguoli A, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, MacDonald ME, Gusella JF.

Am J Hum Genet. 2012 Mar 9;90(3):434-44. doi: 10.1016/j.ajhg.2012.01.005. Epub 2012 Mar 1.

PMID:
22387017
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS; PREDICT-HD study of the Huntington Study Group (HSG), Landwehrmeyer GB; REGISTRY study of the European Huntington's Disease Network, Myers RH; HD-MAPS Study Group, MacDonald ME, Gusella JF; COHORT study of the HSG.

Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8.

PMID:
22323755
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Brain-derived neurotrophic factor in patients with Huntington's disease.

Zuccato C, Marullo M, Vitali B, Tarditi A, Mariotti C, Valenza M, Lahiri N, Wild EJ, Sassone J, Ciammola A, Bachoud-Lèvi AC, Tabrizi SJ, Di Donato S, Cattaneo E.

PLoS One. 2011;6(8):e22966. doi: 10.1371/journal.pone.0022966. Epub 2011 Aug 12.

PMID:
21857974
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Expressed Alu repeats as a novel, reliable tool for normalization of real-time quantitative RT-PCR data.

Marullo M, Zuccato C, Mariotti C, Lahiri N, Tabrizi SJ, Di Donato S, Cattaneo E.

Genome Biol. 2010 Jan 28;11(1):R9. doi: 10.1186/gb-2010-11-1-r9.

PMID:
20109193
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A multicenter phase II study of the combination of oxaliplatin, irinotecan and capecitabine in the first-line treatment of metastatic colorectal cancer.

Vasile E, Masi G, Fornaro L, Cupini S, Loupakis F, Bursi S, Petrini I, Di Donato S, Brunetti IM, Ricci S, Antonuzzo A, Chiara S, Amoroso D, Andreuccetti M, Falcone A.

Br J Cancer. 2009 Jun 2;100(11):1720-4. doi: 10.1038/sj.bjc.6605075. Epub 2009 May 12.

PMID:
19436300
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Propriospinal myoclonus with life threatening tonic spasms as paraneoplastic presentation of breast cancer.

Salsano E, Ciano C, Romano S, Cornelio F, Di Donato S, Pareyson D.

J Neurol Neurosurg Psychiatry. 2006 Mar;77(3):422-4. No abstract available.

PMID:
16484662
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

Cavalier L, Ouahchi K, Kayden HJ, Di Donato S, Reutenauer L, Mandel JL, Koenig M.

Am J Hum Genet. 1998 Feb;62(2):301-10.

PMID:
9463307
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.

Lorenzetti D, Pareyson D, Sghirlanzoni A, Roa BB, Abbas NE, Pandolfo M, Di Donato S, Lupski JR.

Am J Hum Genet. 1995 Jan;56(1):91-8.

PMID:
7825607
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.

Romeo G, Menozzi P, Ferlini A, Fadda S, Di Donato S, Uziel G, Lucci B, Capodaglio L, Filla A, Campanella G.

Am J Hum Genet. 1983 May;35(3):523-9.

PMID:
6859045
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult.

Franceschetti S, Uziel G, Di Donato S, Caimi L, Avanzini G.

J Neurol Neurosurg Psychiatry. 1980 Oct;43(10):934-40.

PMID:
6777461
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Fatal cases of lipid storage myopathy with carnitine deficiency.

Cornelio F, Di Donato S, Peluchetti D, Bizze A, Bertagnolio B, D'Angelo A, Wiesmann U.

J Neurol Neurosurg Psychiatry. 1977 Feb;40(2):170-8.

PMID:
194020
[PubMed - indexed for MEDLINE]
Free PMC Article

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