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Items: 20

1.

Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci.

Fazia T, Pastorino R, Foco L, Han L, Abney M, Beecham A, Hadjixenofontos A, Guo H, Gentilini D, Papachristou C, Bitti PP, Ticca A, Berzuini C, McCauley JL, Bernardinelli L.

Mult Scler. 2017 Sep 1:1352458517732841. doi: 10.1177/1352458517732841. [Epub ahead of print]

PMID:
28933650
2.

Posterior Reversible Encephalopathy Syndrome with Bilateral Independent Epileptic Foci Precipitated By Guillain-Barrè Syndrome.

Rossi R, Saddi MV, Mela A, Ticca A.

Case Rep Neurol Med. 2016;2016:5913840. doi: 10.1155/2016/5913840. Epub 2016 Jun 15.

3.

TBK1 is associated with ALS and ALS-FTD in Sardinian patients.

Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Gibbs JR, Renton AE, Errichiello E, Zoledziewska M, Mulas A, Qian Y, Din J, Pliner HA, Traynor BJ, Chiò A; ITALSGEN and SARDINALS Consortia.

Neurobiol Aging. 2016 Jul;43:180.e1-5. doi: 10.1016/j.neurobiolaging.2016.03.028. Epub 2016 Apr 9.

PMID:
27156075
4.

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.

Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Renton AE, Nalls MA, Traynor BJ, Restagno G, Chiò A; ITALSGEN and SARDINALS consortia.

Neurobiol Aging. 2015 Oct;36(10):2906.e1-5. doi: 10.1016/j.neurobiolaging.2015.06.013. Epub 2015 Jun 25.

5.

Enrichment for Northern European-derived multiple sclerosis risk alleles in Sardinia.

Hadjixenofontos A, Gourraud PA, Bakthavachalam V, Foco L, Ticca A, Bitti P, Pastorino R, Bernardinelli L, McCauley JL.

Mult Scler. 2015 Oct;21(11):1396-403. doi: 10.1177/1352458515581872. Epub 2015 Apr 28.

PMID:
25921054
6.

Genetic architecture of ALS in Sardinia.

Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Pliner HA, Renton AE, Nalls MA, Traynor BJ, Restagno G, Chiò A; ITALSGEN and SARDINALS Consortia.

Neurobiol Aging. 2014 Dec;35(12):2882.e7-2882.e12. doi: 10.1016/j.neurobiolaging.2014.07.012. Epub 2014 Jul 18.

7.

Aquaporin-4 antibody neuromyelitis optica following anti-NMDA receptor encephalitis.

Zoccarato M, Saddi MV, Serra G, Pelizza MF, Rosellini I, Peddone L, Ticca A, Giometto B, Zuliani L.

J Neurol. 2013 Dec;260(12):3185-7. doi: 10.1007/s00415-013-7182-x. Epub 2013 Nov 20. No abstract available.

PMID:
24253480
8.

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C, Booth D, Goris A, Oturai A, Saarela J, Fontaine B, Hemmer B, Martin C, Zipp F, D'Alfonso S, Martinelli-Boneschi F, Taylor B, Harbo HF, Kockum I, Hillert J, Olsson T, Ban M, Oksenberg JR, Hintzen R, Barcellos LF; Wellcome Trust Case Control Consortium 2 (WTCCC2); International IBD Genetics Consortium (IIBDGC), Agliardi C, Alfredsson L, Alizadeh M, Anderson C, Andrews R, Søndergaard HB, Baker A, Band G, Baranzini SE, Barizzone N, Barrett J, Bellenguez C, Bergamaschi L, Bernardinelli L, Berthele A, Biberacher V, Binder TM, Blackburn H, Bomfim IL, Brambilla P, Broadley S, Brochet B, Brundin L, Buck D, Butzkueven H, Caillier SJ, Camu W, Carpentier W, Cavalla P, Celius EG, Coman I, Comi G, Corrado L, Cosemans L, Cournu-Rebeix I, Cree BA, Cusi D, Damotte V, Defer G, Delgado SR, Deloukas P, di Sapio A, Dilthey AT, Donnelly P, Dubois B, Duddy M, Edkins S, Elovaara I, Esposito F, Evangelou N, Fiddes B, Field J, Franke A, Freeman C, Frohlich IY, Galimberti D, Gieger C, Gourraud PA, Graetz C, Graham A, Grummel V, Guaschino C, Hadjixenofontos A, Hakonarson H, Halfpenny C, Hall G, Hall P, Hamsten A, Harley J, Harrower T, Hawkins C, Hellenthal G, Hillier C, Hobart J, Hoshi M, Hunt SE, Jagodic M, Jelčić I, Jochim A, Kendall B, Kermode A, Kilpatrick T, Koivisto K, Konidari I, Korn T, Kronsbein H, Langford C, Larsson M, Lathrop M, Lebrun-Frenay C, Lechner-Scott J, Lee MH, Leone MA, Leppä V, Liberatore G, Lie BA, Lill CM, Lindén M, Link J, Luessi F, Lycke J, Macciardi F, Männistö S, Manrique CP, Martin R, Martinelli V, Mason D, Mazibrada G, McCabe C, Mero IL, Mescheriakova J, Moutsianas L, Myhr KM, Nagels G, Nicholas R, Nilsson P, Piehl F, Pirinen M, Price SE, Quach H, Reunanen M, Robberecht W, Robertson NP, Rodegher M, Rog D, Salvetti M, Schnetz-Boutaud NC, Sellebjerg F, Selter RC, Schaefer C, Shaunak S, Shen L, Shields S, Siffrin V, Slee M, Sorensen PS, Sorosina M, Sospedra M, Spurkland A, Strange A, Sundqvist E, Thijs V, Thorpe J, Ticca A, Tienari P, van Duijn C, Visser EM, Vucic S, Westerlind H, Wiley JS, Wilkins A, Wilson JF, Winkelmann J, Zajicek J, Zindler E, Haines JL, Pericak-Vance MA, Ivinson AJ, Stewart G, Hafler D, Hauser SL, Compston A, McVean G, De Jager P, Sawcer SJ, McCauley JL.

Nat Genet. 2013 Nov;45(11):1353-60. doi: 10.1038/ng.2770. Epub 2013 Sep 29.

9.

Amyotrophic lateral sclerosis in Sardinia, insular Italy, 1995-2009.

Pugliatti M, Parish LD, Cossu P, Leoni S, Ticca A, Saddi MV, Ortu E, Traccis S, Borghero G, Puddu R, Chiò A, Pirina P.

J Neurol. 2013 Feb;260(2):572-9. doi: 10.1007/s00415-012-6681-5. Epub 2012 Sep 30.

PMID:
23052600
10.

A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD.

Borghero G, Floris G, Cannas A, Marrosu MG, Murru MR, Costantino E, Parish LD, Pugliatti M, Ticca A, Traynor BJ, Calvo A, Cammarosano S, Moglia C, Cistaro A, Brunetti M, Restagno G, Chiò A.

Neurobiol Aging. 2011 Dec;32(12):2327.e1-5. doi: 10.1016/j.neurobiolaging.2011.06.009. Epub 2011 Jul 30.

11.

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.

Quadri M, Cossu G, Saddi V, Simons EJ, Murgia D, Melis M, Ticca A, Oostra BA, Bonifati V.

Neurogenetics. 2011 Aug;12(3):203-9. doi: 10.1007/s10048-011-0288-3. Epub 2011 Jun 11.

12.

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.

Chiò A, Borghero G, Pugliatti M, Ticca A, Calvo A, Moglia C, Mutani R, Brunetti M, Ossola I, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Cossu P, Abramzon Y, Johnson JO, Nalls MA, Arepalli S, Chong S, Hernandez DG, Traynor BJ, Restagno G; Italian Amyotrophic Lateral Sclerosis Genetic (ITALSGEN) Consortium.

Arch Neurol. 2011 May;68(5):594-8. doi: 10.1001/archneurol.2010.352. Epub 2011 Jan 10.

13.

Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations.

Chiò A, Calvo A, Moglia C, Restagno G, Ossola I, Brunetti M, Montuschi A, Cistaro A, Ticca A, Traynor BJ, Schymick JC, Mutani R, Marrosu MG, Murru MR, Borghero G.

Arch Neurol. 2010 Aug;67(8):1002-9. doi: 10.1001/archneurol.2010.173.

14.

Association between protective and deleterious HLA alleles with multiple sclerosis in Central East Sardinia.

Pastorino R, Menni C, Barca M, Foco L, Saddi V, Gazzaniga G, Ferrai R, Mascaretti L, Dudbridge F, Berzuini C, Murgia SB, Piras ML, Ticca A, Bitti PP, Bernardinelli L.

PLoS One. 2009 Aug 5;4(8):e6526. doi: 10.1371/journal.pone.0006526.

15.

Partial status epilepticus related to independent occipital foci in posterior reversible encephalopathy syndrome (PRES).

Rossi R, Saddi MV, Ticca A, Murgia SB.

Neurol Sci. 2008 Dec;29(6):455-8. doi: 10.1007/s10072-008-1059-2. Epub 2008 Dec 6.

PMID:
19066721
16.

Association between the ACCN1 gene and multiple sclerosis in Central East Sardinia.

Bernardinelli L, Murgia SB, Bitti PP, Foco L, Ferrai R, Musu L, Prokopenko I, Pastorino R, Saddi V, Ticca A, Piras ML, Cox DR, Berzuini C.

PLoS One. 2007 May 30;2(5):e480.

17.

Risk for relatives of patients with multiple sclerosis in central Sardinia, Italy.

Prokopenko I, Montomoli C, Ferrai R, Musu L, Piras ML, Ticca A, Murgia BS, Bernardinelli L.

Neuroepidemiology. 2003 Sep-Oct;22(5):290-6.

PMID:
12902624
18.

Association between the ancestral haplotype HLA A30B18DR3 and multiple sclerosis in central Sardinia.

Bitti PP, Murgia BS, Ticca A, Ferrai R, Musu L, Piras ML, Puledda E, Campo S, Durando S, Montomoli C, Clayton DG, Mander AP, Bernardinelli L.

Genet Epidemiol. 2001 Feb;20(2):271-83.

PMID:
11180452
19.

The increasing incidence and prevalence of MS in a Sardinian province.

Granieri E, Casetta I, Govoni V, Tola MR, Marchi D, Murgia SB, Ticca A, Pugliatti M, Murgia B, Rosati G.

Neurology. 2000 Sep 26;55(6):842-8.

PMID:
10994006
20.

An epidemiological study of multiple sclerosis in central Sardinia, Italy.

Casetta I, Granieri E, Marchi D, Murgia SB, Tola MR, Ticca A, Lauria G, Govoni V, Murgia B, Pugliatti M.

Acta Neurol Scand. 1998 Dec;98(6):391-4.

PMID:
9875616

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