Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 131

1.

Frontal cortex BOLD signal changes in premanifest Huntington disease: a possible fMRI biomarker.

Ferraro S, Nanetti L, Piacentini S, Mandelli ML, Bertolino N, Ghielmetti F, Epifani F, Nigri A, Taroni F, Bruzzone MG, Di Donato S, Savoiardo M, Mariotti C, Grisoli M.

Neurology. 2014 Jul 1;83(1):65-72. doi: 10.1212/WNL.0000000000000538. Epub 2014 Jun 4.

PMID:
24898924
[PubMed - in process]
2.

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
3.

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
4.

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
5.

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
6.

The influence of gender on phenotype and disease progression in patients with Huntington's disease.

Zielonka D, Marinus J, Roos RA, De Michele G, Di Donato S, Putter H, Marcinkowski J, Squitieri F, Bentivoglio AR, Landwehrmeyer GB.

Parkinsonism Relat Disord. 2013 Feb;19(2):192-7. doi: 10.1016/j.parkreldis.2012.09.012. Epub 2012 Oct 25.

PMID:
23102616
[PubMed - indexed for MEDLINE]
7.

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
8.

The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity.

Camnasio S, Delli Carri A, Lombardo A, Grad I, Mariotti C, Castucci A, Rozell B, Lo Riso P, Castiglioni V, Zuccato C, Rochon C, Takashima Y, Diaferia G, Biunno I, Gellera C, Jaconi M, Smith A, Hovatta O, Naldini L, Di Donato S, Feki A, Cattaneo E.

Neurobiol Dis. 2012 Apr;46(1):41-51. doi: 10.1016/j.nbd.2011.12.042.

PMID:
22405424
[PubMed - indexed for MEDLINE]
9.

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
10.

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
11.

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
12.

Spinocerebellar ataxia type 28.

Mariotti C, Bella DD, Di Donato S, Taroni F.

Handb Clin Neurol. 2012;103:575-9. doi: 10.1016/B978-0-444-51892-7.00039-5.

PMID:
21827917
[PubMed - indexed for MEDLINE]
13.

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.

Castellotti B, Mariotti C, Rimoldi M, Fancellu R, Plumari M, Caimi S, Uziel G, Nardocci N, Moroni I, Zorzi G, Pareyson D, Di Bella D, Di Donato S, Taroni F, Gellera C.

Neurogenetics. 2011 Aug;12(3):193-201. doi: 10.1007/s10048-011-0281-x. Epub 2011 Apr 5.

PMID:
21465257
[PubMed - indexed for MEDLINE]
14.

Whole body cholesterol metabolism is impaired in Huntington's disease.

Leoni V, Mariotti C, Nanetti L, Salvatore E, Squitieri F, Bentivoglio AR, Bandettini di Poggio M, Piacentini S, Monza D, Valenza M, Cattaneo E, Di Donato S.

Neurosci Lett. 2011 May 2;494(3):245-9. doi: 10.1016/j.neulet.2011.03.025. Epub 2011 Mar 22. Erratum in: Neurosci Lett. 2011 Jul 8;498(2):171. Bandettini Del Poggio, M [corrected to Bandettini di Poggio, M].

PMID:
21406216
[PubMed - indexed for MEDLINE]
15.

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.

Burgunder JM, Schöls L, Baets J, Andersen P, Gasser T, Szolnoki Z, Fontaine B, Van Broeckhoven C, Di Donato S, De Jonghe P, Lynch T, Mariotti C, Spinazzola A, Tabrizi SJ, Tallaksen C, Zeviani M, Harbo HF, Finsterer J; EFNS.

Eur J Neurol. 2011 Feb;18(2):207-17. doi: 10.1111/j.1468-1331.2010.03069.x.

PMID:
20500522
[PubMed - indexed for MEDLINE]
16.

A multidisciplinary approach to the investigation of a collapsed building.

Pomara C, Turillazzi E, Neri M, Bello SC, Di Donato S, Riezzo I, D'Errico S, Fiore C, Zizzo G, Karch SB, Fineschi V.

Am J Forensic Med Pathol. 2010 Sep;31(3):264-8. doi: 10.1097/PAF.0b013e3181dfc9b4.

PMID:
20498592
[PubMed - indexed for MEDLINE]
17.

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

Burgunder JM, Finsterer J, Szolnoki Z, Fontaine B, Baets J, Van Broeckhoven C, Di Donato S, De Jonghe P, Lynch T, Mariotti C, Schöls L, Spinazzola A, Tabrizi SJ, Tallaksen C, Zeviani M, Harbo HF, Gasser T; EFNS.

Eur J Neurol. 2010 May;17(5):641-8. doi: 10.1111/j.1468-1331.2010.02985.x. Epub 2010 Mar 9.

PMID:
20298421
[PubMed - indexed for MEDLINE]
18.

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F.

Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7.

PMID:
20208537
[PubMed - indexed for MEDLINE]
19.

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
20.

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS.

Eur J Neurol. 2010 Feb;17(2):179-88. doi: 10.1111/j.1468-1331.2009.02873.x. Epub 2009 Dec 28.

PMID:
20050888
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk