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Results: 13

1.

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.

Mandrile G, Gallus GN, Mura G, Di Sapio A, Sotgiu MA, Montella A, Giachino DF, Dotti MT, Ulgheri L, Federico A.

Neurol Sci. 2014 Aug;35(8):1303-5. doi: 10.1007/s10072-014-1696-6. Epub 2014 Mar 2. No abstract available.

PMID:
24584636
[PubMed - in process]
2.

Genetic counselling in ALS: facts, uncertainties and clinical suggestions.

Chiò A, Battistini S, Calvo A, Caponnetto C, Conforti FL, Corbo M, Giannini F, Mandrioli J, Mora G, Sabatelli M; ITALSGEN Consortium, Ajmone C, Mastro E, Pain D, Mandich P, Penco S, Restagno G, Zollino M, Surbone A.

J Neurol Neurosurg Psychiatry. 2014 May;85(5):478-85. doi: 10.1136/jnnp-2013-305546. Epub 2013 Jul 6. Review.

PMID:
23833266
[PubMed - indexed for MEDLINE]
3.

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.

Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, Canosa A, Moglia C, Floris G, Tacconi P, Marrosu F, Marrosu MG, Murru MR, Majounie E, Renton AE, Abramzon Y, Pugliatti M, Sotgiu MA, Traynor BJ, Borghero G; SARDINIALS Consortium.

J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):730-3. doi: 10.1136/jnnp-2012-302219. Epub 2012 May 1.

PMID:
22550220
[PubMed - indexed for MEDLINE]
4.

Cadmium influences the 5-Fluorouracil cytotoxic effects on breast cancer cells.

Asara Y, Marchal JA, Bandiera P, Mazzarello V, Delogu LG, Sotgiu MA, Montella A, Madeddu R.

Eur J Histochem. 2012 Jan 20;56(1):e1. doi: 10.4081/ejh.2012.e1.

PMID:
22472887
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.

Sabatelli M, Conforti FL, Zollino M, Mora G, Monsurrò MR, Volanti P, Marinou K, Salvi F, Corbo M, Giannini F, Battistini S, Penco S, Lunetta C, Quattrone A, Gambardella A, Logroscino G, Simone I, Bartolomei I, Pisano F, Tedeschi G, Conte A, Spataro R, La Bella V, Caponnetto C, Mancardi G, Mandich P, Sola P, Mandrioli J, Renton AE, Majounie E, Abramzon Y, Marrosu F, Marrosu MG, Murru MR, Sotgiu MA, Pugliatti M, Rodolico C; ITALSGEN Consortium, Moglia C, Calvo A, Ossola I, Brunetti M, Traynor BJ, Borghero G, Restagno G, Chiò A.

Neurobiol Aging. 2012 Aug;33(8):1848.e15-20. doi: 10.1016/j.neurobiolaging.2012.02.011. Epub 2012 Mar 13.

PMID:
22418734
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Chiò A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, Sendtner M, Brunetti M, Ossola I, Calvo A, Pugliatti M, Sotgiu MA, Murru MR, Marrosu MG, Marrosu F, Marinou K, Mandrioli J, Sola P, Caponnetto C, Mancardi G, Mandich P, La Bella V, Spataro R, Conte A, Monsurrò MR, Tedeschi G, Pisano F, Bartolomei I, Salvi F, Lauria Pinter G, Simone I, Logroscino G, Gambardella A, Quattrone A, Lunetta C, Volanti P, Zollino M, Penco S, Battistini S; ITALSGEN consortium, Renton AE, Majounie E, Abramzon Y, Conforti FL, Giannini F, Corbo M, Sabatelli M.

Brain. 2012 Mar;135(Pt 3):784-93. doi: 10.1093/brain/awr366.

PMID:
22366794
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Cytoskeletal proteins in the cerebrospinal fluid as biomarker of multiple sclerosis.

Madeddu R, Farace C, Tolu P, Solinas G, Asara Y, Sotgiu MA, Delogu LG, Prados JC, Sotgiu S, Montella A.

Neurol Sci. 2013 Feb;34(2):181-6. doi: 10.1007/s10072-012-0974-4. Epub 2012 Feb 24.

PMID:
22362332
[PubMed - indexed for MEDLINE]
8.

Self-perceived physical functioning and health status among fully ambulatory multiple sclerosis patients.

Pugliatti M, Riise T, Nortvedt MW, Carpentras G, Sotgiu MA, Sotgiu S, Rosati G.

J Neurol. 2008 Feb;255(2):157-62. doi: 10.1007/s00415-008-0543-1. Epub 2008 Feb 20.

PMID:
18283408
[PubMed - indexed for MEDLINE]
9.

Evidence of early childhood as the susceptibility period in multiple sclerosis: space-time cluster analysis in a Sardinian population.

Pugliatti M, Riise T, Sotgiu MA, Satta WM, Sotgiu S, Pirastru MI, Rosati G.

Am J Epidemiol. 2006 Aug 15;164(4):326-33. Epub 2006 Jun 5.

PMID:
16754634
[PubMed - indexed for MEDLINE]
Free Article
10.

Seasonal fluctuation of multiple sclerosis births in Sardinia.

Sotgiu S, Pugliatti M, Sotgiu MA, Fois ML, Arru G, Sanna A, Rosati G.

J Neurol. 2006 Jan;253(1):38-44. Epub 2005 Jul 20.

PMID:
16021348
[PubMed - indexed for MEDLINE]
11.

Increasing incidence of multiple sclerosis in the province of Sassari, northern Sardinia.

Pugliatti M, Riise T, Sotgiu MA, Sotgiu S, Satta WM, Mannu L, Sanna G, Rosati G.

Neuroepidemiology. 2005;25(3):129-34. Epub 2005 Jun 29.

PMID:
15990443
[PubMed - indexed for MEDLINE]
12.

Genes, environment, and susceptibility to multiple sclerosis.

Sotgiu S, Pugliatti M, Fois ML, Arru G, Sanna A, Sotgiu MA, Rosati G.

Neurobiol Dis. 2004 Nov;17(2):131-43. Review.

PMID:
15474351
[PubMed - indexed for MEDLINE]
13.

Multiple sclerosis in Northern Sardinia, Italy: a methodological approach for genetic epidemiological studies.

Pugliatti M, Sotgiu S, Sadovnick AD, Yee IM, Sotgiu MA, Poser CM, Rosati G.

Neuroepidemiology. 2003 Nov-Dec;22(6):362-5.

PMID:
14557688
[PubMed - indexed for MEDLINE]

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