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Items: 1 to 50 of 59

1.

Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.

Giorgio E, Garelli E, Carando A, Bellora S, Rubino E, Quarello P, Sirchia F, Marrama F, Gallone S, Grosso E, Pasini B, Massa R, Brussino A, Brusco A.

J Hum Genet. 2019 Nov;64(11):1083-1090. doi: 10.1038/s10038-019-0668-3. Epub 2019 Sep 9.

PMID:
31501477
2.

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.

Gnoli M, Staals EL, Campanacci L, Bedeschi MF, Faletra F, Gallone S, Gaudio A, Mattina T, Gurrieri F, Percesepe A, Neri I, Virdi A, Tremosini M, Milanesi A, Brizola E, Pedrini E, Sangiorgi L.

Calcif Tissue Int. 2019 Aug;105(2):215-221. doi: 10.1007/s00223-019-00565-6. Epub 2019 May 25.

PMID:
31129707
3.

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

D'Amore A, Tessa A, Casali C, Dotti MT, Filla A, Silvestri G, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Bruno I, Cereda C, Dato C, Di Iorio G, Donadio V, Felicori M, Fini N, Fiorillo C, Gallone S, Gemignani F, Gigli GL, Graziano C, Guerrini R, Gurrieri F, Kariminejad A, Lieto M, Marques LourenḈo C, Malandrini A, Mandich P, Marcotulli C, Mari F, Massacesi L, Melone MAB, Mignarri A, Milone R, Musumeci O, Pegoraro E, Perna A, Petrucci A, Pini A, Pochiero F, Pons MR, Ricca I, Rossi S, Seri M, Stanzial F, Tinelli F, Toscano A, Valente M, Federico A, Rubegni A, Santorelli FM.

Front Neurol. 2018 Dec 4;9:981. doi: 10.3389/fneur.2018.00981. eCollection 2018.

4.

Blood-tissue analysis of TP53 polymorphisms and survival of patients with glioma.

Panciani PP, Giordana MT, Gallone S, Muratori A, Rotunno R, Migliorati K, Spena G, Ducati A, Fontanella M.

J Neurosurg Sci. 2018 Jan 4. doi: 10.23736/S0390-5616.18.04284-4. [Epub ahead of print]

PMID:
29308633
5.

Late onset bipolar disorder and frontotemporal dementia with mutation in progranulin gene: a case report.

Rubino E, Vacca A, Gallone S, Govone F, Zucca M, Gai A, Ferrero P, Fenoglio P, Giordana MT, Rainero I.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Nov;18(7-8):624-626. doi: 10.1080/21678421.2017.1339716. Epub 2017 Jun 30.

6.

Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification.

Rubino E, Giorgio E, Godani M, Grosso E, Zibetti M, Lopiano L, Ferrero P, Duca S, Moretti L, Gallone S, Rainero I, Brusco A.

J Neurol Sci. 2017 Jun 15;377:62-64. doi: 10.1016/j.jns.2017.03.053. Epub 2017 Mar 31. No abstract available.

7.

O056. Migraine as presenting symptom of SLC20A2gene mutations.

Rubino E, Giorgio E, Rainero I, Ferrero P, Gallone S, Govone F, Pinessi L, Orsi L, Duca S, Brusco A.

J Headache Pain. 2015 Dec;16(Suppl 1):A121. doi: 10.1186/1129-2377-16-S1-A121. No abstract available.

8.

Chemotherapy-Induced Neurotoxicity: Evidence of a Protective Role of CC Homozygosis in the Interleukin-1β Gene-511 C>T Polymorphism.

Peila E, D'Agata F, Caroppo P, Orsi L, Mortara P, Cauda S, Manfredi M, Caglio MM, Fenoglio P, Baudino B, Castellano G, Bisi G, Pinessi L, Gallone S.

Neurotox Res. 2016 Oct;30(3):521-9. doi: 10.1007/s12640-016-9637-1. Epub 2016 Jun 7.

9.

KCNK18 (TRESK) genetic variants in Italian patients with migraine.

Rainero I, Rubino E, Gallone S, Zavarise P, Carli D, Boschi S, Fenoglio P, Savi L, Gentile S, Benna P, Pinessi L, Dalla Volta G.

Headache. 2014 Oct;54(9):1515-22. doi: 10.1111/head.12439.

PMID:
25324165
10.

Novel mutation of SLC20A2 in an Italian patient presenting with migraine.

Rubino E, Giorgio E, Gallone S, Pinessi L, Orsi L, Gentile S, Duca S, Brusco A.

J Neurol. 2014 Oct;261(10):2019-21. doi: 10.1007/s00415-014-7475-8. Epub 2014 Sep 2. No abstract available.

11.

Is HCRTR2 a genetic risk factor for Alzheimer's disease?

Gallone S, Boschi S, Rubino E, De Martino P, Scarpini E, Galimberti D, Fenoglio C, Acutis PL, Maniaci MG, Pinessi L, Rainero I.

Dement Geriatr Cogn Disord. 2014;38(3-4):245-53. doi: 10.1159/000359964. Epub 2014 Jun 25.

PMID:
24969517
12.

Association between polymorphisms rs1333040 and rs7865618 of chromosome 9p21 and sporadic brain arteriovenous malformations.

Sturiale CL, Fontanella MM, Gatto I, Puca A, Giarretta I, D'Arrigo S, Lofrese G, Rainero I, Gallone S, Pinessi L, Ducati A, Maira G, Pola R.

Cerebrovasc Dis. 2014;37(4):290-5. doi: 10.1159/000360752. Epub 2014 May 7.

13.

Influenza vaccination coverage among medical residents: an Italian multicenter survey.

Costantino C, Mazzucco W, Azzolini E, Baldini C, Bergomi M, Biafiore AD, Bianco M, Borsari L, Cacciari P, Cadeddu C, Camia P, Carluccio E, Conti A, De Waure C, Di Gregori V, Fabiani L, Fallico R, Filisetti B, Flacco ME, Franco E, Furnari R, Galis V, Gallea MR, Gallone MF, Gallone S, Gelatti U, Gilardi F, Giuliani AR, Grillo OC, Lanati N, Mascaretti S, Mattei A, Micò R, Morciano L, Nante N, Napoli G, Nobile CG, Palladino R, Parisi S, Passaro M, Pelissero G, Quarto M, Ricciardi W, Romano G, Rustico E, Saponari A, Schioppa FS, Signorelli C, Siliquini R, Trabacchi V, Triassi M, Varetta A, Ziglio A, Zoccali A, Vitale F, Amodio E.

Hum Vaccin Immunother. 2014;10(5):1204-10. doi: 10.4161/hv.28081. Epub 2014 Mar 6.

14.

Vascular endothelial growth factor gene polymorphisms and intracranial aneurysms.

Fontanella M, Gallone S, Panciani PP, Garbossa D, Stefini R, Latronico N, Rubino E, Marengo N, Ducati A, Pinessi L, Rainero I.

Acta Neurochir (Wien). 2013 Aug;155(8):1511-5. doi: 10.1007/s00701-013-1779-9. Epub 2013 Jun 1.

PMID:
23728502
15.

Genetic variants in the NOTCH4 gene influence the clinical features of migraine.

Rubino E, Fenoglio P, Gallone S, Govone F, Vacca A, De Martino P, Giobbe ML, Boschi S, Pinessi L, Gentile S, Rainero I.

J Headache Pain. 2013 Mar 26;14:28. doi: 10.1186/1129-2377-14-28.

16.

Expression of the transcription factor Sp1 and its regulatory hsa-miR-29b in peripheral blood mononuclear cells from patients with Alzheimer's disease.

Villa C, Ridolfi E, Fenoglio C, Ghezzi L, Vimercati R, Clerici F, Marcone A, Gallone S, Serpente M, Cantoni C, Bonsi R, Cioffi S, Cappa S, Franceschi M, Rainero I, Mariani C, Scarpini E, Galimberti D.

J Alzheimers Dis. 2013;35(3):487-94. doi: 10.3233/JAD-122263.

PMID:
23435408
17.

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Rubino E, Rainero I, Chiò A, Rogaeva E, Galimberti D, Fenoglio P, Grinberg Y, Isaia G, Calvo A, Gentile S, Bruni AC, St George-Hyslop PH, Scarpini E, Gallone S, Pinessi L; TODEM Study Group.

Neurology. 2012 Oct 9;79(15):1556-62. doi: 10.1212/WNL.0b013e31826e25df. Epub 2012 Sep 12.

18.

Genetics and expression analysis of the specificity protein 4 gene (SP4) in patients with Alzheimer's disease and frontotemporal lobar degeneration.

Villa C, Ghezzi L, Fenoglio C, Clerici F, Marcone A, Benussi L, Ghidoni R, Gallone S, Serpente M, Cantoni C, Ridolfi E, Bonsi R, Cerami C, Cappa S, Binetti G, Franceschi M, Rainero I, Mariani C, Bresolin N, Scarpini E, Galimberti D.

J Alzheimers Dis. 2012;31(3):537-42. doi: 10.3233/JAD-2012-120379.

PMID:
22614877
19.

A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease.

Gianfrancesco F, Rendina D, Di Stefano M, Mingione A, Esposito T, Merlotti D, Gallone S, Magliocca S, Goode A, Formicola D, Morello G, Layfield R, Frattini A, De Filippo G, Nuti R, Searle M, Strazzullo P, Isaia G, Mossetti G, Gennari L.

J Bone Miner Res. 2012 Feb;27(2):443-52. doi: 10.1002/jbmr.542.

20.

Proinflammatory cytokine gene polymorphisms and susceptibility to Paget's disease of bone: an association study.

Gallone S, Di Stefano M, Fenoglio P, Rubino E, Criasia A, Pinessi L, Isaia G, Rainero I.

Cytokine. 2011 Dec;56(3):560-3. doi: 10.1016/j.cyto.2011.08.020. Epub 2011 Sep 13.

PMID:
21917472
21.

Heterosexual pedophilia in a frontotemporal dementia patient with a mutation in the progranulin gene.

Rainero I, Rubino E, Negro E, Gallone S, Galimberti D, Gentile S, Scarpini E, Pinessi L.

Biol Psychiatry. 2011 Nov 1;70(9):e43-4. doi: 10.1016/j.biopsych.2011.06.015. Epub 2011 Jul 24. No abstract available.

PMID:
21791336
22.

Brain arteriovenous malformations are associated with interleukin-1 cluster gene polymorphisms.

Fontanella M, Rubino E, Crobeddu E, Gallone S, Gentile S, Garbossa D, Ducati A, Pinessi L, Rainero I.

Neurosurgery. 2012 Jan;70(1):12-7. doi: 10.1227/NEU.0b013e31822d9881.

PMID:
21768915
23.

Role of OLR1 and its regulating hsa-miR369-3p in Alzheimer's disease: genetics and expression analysis.

Serpente M, Fenoglio C, Villa C, Cortini F, Cantoni C, Ridolfi E, Clerici F, Marcone A, Benussi L, Ghidoni R, Martinelli Boneschi F, Gallone S, Cappa S, Binetti G, Franceschi M, Rainero I, Giordana MT, Mariani C, Bresolin N, Scarpini E, Galimberti D.

J Alzheimers Dis. 2011;26(4):787-93. doi: 10.3233/JAD-2011-110074.

PMID:
21709374
24.

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.

Mosca L, Marazzi R, Ciccone A, Santilli I, Bersano A, Sansone V, Grosso E, Mandrile G, Giachino DF, Adobbati L, Corengia E, Agostoni E, Fiumani A, Gallone S, Scarpini E, Guidotti M, Sterzi R, Ajmone C, Marocchi A, Penco S.

J Neurol Sci. 2011 Aug 15;307(1-2):144-8. doi: 10.1016/j.jns.2011.04.019. Epub 2011 May 26.

25.

Role of hnRNP-A1 and miR-590-3p in neuronal death: genetics and expression analysis in patients with Alzheimer disease and frontotemporal lobar degeneration.

Villa C, Fenoglio C, De Riz M, Clerici F, Marcone A, Benussi L, Ghidoni R, Gallone S, Cortini F, Serpente M, Cantoni C, Fumagalli G, Martinelli Boneschi F, Cappa S, Binetti G, Franceschi M, Rainero I, Giordana MT, Mariani C, Bresolin N, Scarpini E, Galimberti D.

Rejuvenation Res. 2011 Jun;14(3):275-81. doi: 10.1089/rej.2010.1123. Epub 2011 May 6.

PMID:
21548758
26.

Detection of Exon 8 mutations in sqstm1/p62 gene by mutation-specific restriction enzyme digestion: a sensitive screening for Paget disease of bone.

Gallone S, Di Stefano M, Rainero I, Fenoglio P, Gravante E, Incardona S, Acutis PL, Maniaci MG, Isaia GC, Pinessi L.

Panminerva Med. 2011 Mar;53(1):71-2. No abstract available.

PMID:
21346705
27.

Evidence for an association between migraine and the hypocretin receptor 1 gene.

Rainero I, Rubino E, Gallone S, Fenoglio P, Picci LR, Giobbe L, Ostacoli L, Pinessi L.

J Headache Pain. 2011 Apr;12(2):193-9. doi: 10.1007/s10194-011-0314-8. Epub 2011 Feb 23.

28.

BAG1 is a protective factor for sporadic frontotemporal lobar degeneration but not for Alzheimer's disease.

Venturelli E, Villa C, Fenoglio C, Clerici F, Marcone A, Benussi L, Ghidoni R, Gallone S, Cortini F, Serpente M, Cantoni C, Fumagalli G, Ridolfi E, Cappa S, Binetti G, Franceschi M, Rainero I, Giordana MT, Mariani C, Bresolin N, Scarpini E, Galimberti D.

J Alzheimers Dis. 2011;23(4):701-7. doi: 10.3233/JAD-2010-101416.

PMID:
21157029
29.

Association between major mood disorders and the hypocretin receptor 1 gene.

Rainero I, Ostacoli L, Rubino E, Gallone S, Picci LR, Fenoglio P, Negro E, Rosso C, De Martino P, De Marchi M, Furlan PM, Pinessi L.

J Affect Disord. 2011 May;130(3):487-91. doi: 10.1016/j.jad.2010.10.033. Epub 2010 Nov 10.

30.

A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities.

Bachetti T, Di Zanni E, Lantieri F, Caroli F, Regis S, Filocamo M, Rainero I, Gallone S, Cilia R, Romano S, Savoiardo M, Pareyson D, Biancheri R, Ravazzolo R, Ceccherini I.

Ann Hum Genet. 2010 Nov;74(6):506-15. doi: 10.1111/j.1469-1809.2010.00614.x.

31.

Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?

Venturelli E, Villa C, Fenoglio C, Clerici F, Marcone A, Benussi L, Ghidoni R, Gallone S, Scalabrini D, Cortini F, Fumagalli G, Cappa S, Binetti G, Franceschi M, Rainero I, Giordana MT, Mariani C, Bresolin N, Scarpini E, Galimberti D.

Neurosci Lett. 2010 Oct 4;482(3):240-4. doi: 10.1016/j.neulet.2010.07.047. Epub 2010 Jul 27.

PMID:
20670673
32.

Interleukin-1 cluster gene polymorphisms and aneurysmal subarachnoid hemorrhage.

Fontanella M, Rainero I, Gallone S, Rubino E, Fornaro R, Fenoglio P, Valfrè W, Vaula G, Benevello C, Ducati A, Pinessi L.

Neurosurgery. 2010 Jun;66(6):1058-62; discussion 1062-3. doi: 10.1227/01.NEU.0000369187.95163.5D.

PMID:
20495422
33.

SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone.

Gennari L, Gianfrancesco F, Di Stefano M, Rendina D, Merlotti D, Esposito T, Gallone S, Fusco P, Rainero I, Fenoglio P, Mancini M, Martini G, Bergui S, De Filippo G, Isaia G, Strazzullo P, Nuti R, Mossetti G.

J Bone Miner Res. 2010 Jun;25(6):1375-84. doi: 10.1002/jbmr.31.

34.

GRN variability contributes to sporadic frontotemporal lobar degeneration.

Galimberti D, Fenoglio C, Cortini F, Serpente M, Venturelli E, Villa C, Clerici F, Marcone A, Benussi L, Ghidoni R, Gallone S, Scalabrini D, Restelli I, Martinelli Boneschi F, Cappa S, Binetti G, Mariani C, Rainero I, Giordana MT, Bresolin N, Scarpini E.

J Alzheimers Dis. 2010;19(1):171-7. doi: 10.3233/JAD-2010-1225.

PMID:
20061636
35.

FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration.

Cantoni C, Fenoglio C, Cortini F, Venturelli E, Villa C, Clerici F, Marcone A, Benussi L, Ghidoni R, Gallone S, Scalabrini D, Franceschi M, Cappa S, Binetti G, Mariani C, Rainero I, Giordana MT, Bresolin N, Scarpini E, Galimberti D.

J Alzheimers Dis. 2010;19(4):1317-22. doi: 10.3233/JAD-2010-1328.

PMID:
20061612
36.

Cluster headache is associated with the alcohol dehydrogenase 4 (ADH4) gene.

Rainero I, Rubino E, Gallone S, Fenoglio P, Negro E, De Martino P, Savi L, Pinessi L.

Headache. 2010 Jan;50(1):92-8. doi: 10.1111/j.1526-4610.2009.01569.x. Epub 2009 Nov 17.

PMID:
19925625
37.

Absence of TARDBP gene mutations in an italian series of patients with frontotemporal lobar degeneration.

Gallone S, Giordana MT, Scarpini E, Rainero I, Rubino E, Fenoglio P, Galimberti D, Grifoni S, Venturelli E, Acutis PL, Peletto S, Maniaci MG, Ferrero P, Zotta M, Pinessi L.

Dement Geriatr Cogn Disord. 2009;28(3):239-43. doi: 10.1159/000241876. Epub 2009 Sep 25.

PMID:
19786775
38.

Pro-inflammatory cytokine genes influence the clinical features of frontotemporal lobar degeneration.

Rainero I, Rubino E, Cappa G, Rota E, Valfrè W, Ferrero P, Fenoglio P, Baci D, D'Amico G, Vaula G, Gallone S, Pinessi L.

Dement Geriatr Cogn Disord. 2009;27(6):543-7. doi: 10.1159/000225962. Epub 2009 Jun 23.

PMID:
19546559
39.

DCUN1D1 is a risk factor for frontotemporal lobar degeneration.

Villa C, Venturelli E, Fenoglio C, Clerici F, Marcone A, Benussi L, Gallone S, Scalabrini D, Cortini F, Serpente M, Martinelli Boneschi F, Cappa S, Binetti G, Mariani C, Rainero I, Giordana MT, Bresolin N, Scarpini E, Galimberti D.

Eur J Neurol. 2009 Jul;16(7):870-3. doi: 10.1111/j.1468-1331.2009.02611.x. Epub 2009 Mar 31.

PMID:
19473369
40.

CCL8/MCP-2 association analysis in patients with Alzheimer's disease and frontotemporal lobar degeneration.

Villa C, Venturelli E, Fenoglio C, Clerici F, Marcone A, Benussi L, Ghidoni R, Gallone S, Cortini F, Scalabrini D, Serpente M, Binetti G, Cappa S, Mariani C, Rainero I, Bresolin N, Scarpini E, Galimberti D.

J Neurol. 2009 Aug;256(8):1379-81. doi: 10.1007/s00415-009-5138-y. Epub 2009 May 5.

PMID:
19415413
41.

Investigating the genetic role of aquaporin4 gene in migraine.

Rubino E, Rainero I, Vaula G, Crasto F, Gravante E, Negro E, Brega F, Gallone S, Pinessi L.

J Headache Pain. 2009 Apr;10(2):111-4. doi: 10.1007/s10194-009-0100-z. Epub 2009 Feb 10.

42.

The NOS3 G894T (Glu298Asp) polymorphism is a risk factor for frontotemporal lobar degeneration.

Venturelli E, Villa C, Fenoglio C, Clerici F, Marcone A, Ghidoni R, Cortini F, Scalabrini D, Gallone S, Rainero I, Mandelli A, Restelli I, Binetti G, Cappa S, Mariani C, Giordana MT, Bresolin N, Scarpini E, Galimberti D.

Eur J Neurol. 2009 Jan;16(1):37-42. doi: 10.1111/j.1468-1331.2008.02335.x.

PMID:
19087148
43.

Haplotype analysis confirms the association between the HCRTR2 gene and cluster headache.

Rainero I, Gallone S, Rubino E, Ponzo P, Valfre W, Binello E, Fenoglio P, Gentile S, Anoaica M, Gasparini M, Pinessi L.

Headache. 2008 Jul;48(7):1108-14. doi: 10.1111/j.1526-4610.2008.01080.x. Epub 2008 Apr 8.

PMID:
18399985
44.

Interleukin 6 gene polymorphisms are not associated with aneurysmal subarachnoid haemorrhage in an Italian population.

Fontanella M, Rainero I, Gallone S, Rubino E, Fenoglio P, Valfrè W, Garbossa D, Benevello C, Ducati A, Pinessi L.

J Neurol Neurosurg Psychiatry. 2008 Apr;79(4):471-3. doi: 10.1136/jnnp.2007.131565.

PMID:
18344399
45.

The 1246G-->A polymorphism of the HCRTR2 gene is not associated with migraine.

Pinessi L, Binello E, De Martino P, Gallone S, Gentile S, Rainero I, Rivoiro C, Rubino E, Savi L, Valfrè W, Vaula G.

Cephalalgia. 2007 Aug;27(8):945-9. Epub 2007 Jul 23.

PMID:
17645762
46.

Association between the G1246A polymorphism of the hypocretin receptor 2 gene and cluster headache: a meta-analysis.

Rainero I, Rubino E, Valfrè W, Gallone S, De Martino P, Zampella E, Pinessi L.

J Headache Pain. 2007 Jun;8(3):152-6. Epub 2007 Jun 11. Review.

47.

Tumor necrosis factor-alpha gene and cerebral aneurysms.

Fontanella M, Rainero I, Gallone S, Rubino E, Fenoglio P, Valfrè W, Garbossa D, Carlino C, Ducati A, Pinessi L.

Neurosurgery. 2007 Apr;60(4):668-72; discussion 672-3.

PMID:
17415203
48.

Lack of association between the apolipoprotein E gene and aneurysmal subarachnoid hemorrhage in an Italian population.

Fontanella M, Rainero I, Gallone S, Rubino E, Rivoiro C, Valfrè W, Garbossa D, Nurisso C, Ducati A, Pinessi L.

J Neurosurg. 2007 Feb;106(2):245-9.

PMID:
17410707
49.

Haemochromatosis gene (HFE) polymorphisms and migraine: an association study.

Rainero I, Rubino E, Rivoiro C, Valfrè W, Binello E, Zampella E, De Martino P, Gentile S, Fenoglio P, Savi L, Gallone S, Pinessi L.

Cephalalgia. 2007 Jan;27(1):9-13.

PMID:
17212677
50.

Genetics of cluster headache: an update.

Pinessi L, Rainero I, Rivoiro C, Rubino E, Gallone S.

J Headache Pain. 2005 Sep;6(4):234-6. Review.

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