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Items: 39

1.

A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).

Giorgio E, Vaula G, Benna P, Lo Buono N, Eandi CM, Dino D, Mancini C, Cavalieri S, Di Gregorio E, Pozzi E, Ferrero M, Giordana MT, Depienne C, Brusco A.

J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):894-896. doi: 10.1136/jnnp-2016-315525. Epub 2017 May 4. No abstract available.

PMID:
28473625
2.

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38).

Borroni B, Di Gregorio E, Orsi L, Vaula G, Costanzi C, Tempia F, Mitro N, Caruso D, Manes M, Pinessi L, Padovani A, Brusco A, Boccone L.

Parkinsonism Relat Disord. 2016 Jul;28:80-6. doi: 10.1016/j.parkreldis.2016.04.030. Epub 2016 Apr 27.

3.

Two families with novel missense mutations in COL4A1: When diagnosis can be missed.

Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A.

J Neurol Sci. 2015 May 15;352(1-2):99-104. doi: 10.1016/j.jns.2015.03.042. Epub 2015 Apr 7.

4.

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).

Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D, Vaula G, Stamoulis G, Santoni F, Atzori C, Gasparini L, Ferrera D, Canale C, Guipponi M, Pennacchio LA, Antonarakis SE, Brussino A, Brusco A.

Hum Mol Genet. 2015 Jun 1;24(11):3143-54. doi: 10.1093/hmg/ddv065. Epub 2015 Feb 20.

5.

ELOVL5 mutations cause spinocerebellar ataxia 38.

Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A.

Am J Hum Genet. 2014 Aug 7;95(2):209-17. doi: 10.1016/j.ajhg.2014.07.001. Epub 2014 Jul 24.

6.

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.

Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS.

Hum Mutat. 2013 Aug;34(8):1160-71. doi: 10.1002/humu.22348. Epub 2013 May 28. Erratum in: Hum Mutat. 2014 Jan;35(1):149.

7.

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.

Mancini C, Vaula G, Scalzitti L, Cavalieri S, Bertini E, Aiello C, Lucchini C, Gatti RA, Brussino A, Brusco A.

Neurogenetics. 2012 Aug;13(3):205-14. doi: 10.1007/s10048-012-0331-z. Epub 2012 May 3.

8.

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
9.

Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.

Di Gregorio E, Orsi L, Godani M, Vaula G, Jensen S, Salmon E, Ferrari G, Squadrone S, Abete MC, Cagnoli C, Brussino A, Brusco A.

Cerebellum. 2010 Mar;9(1):115-23. doi: 10.1007/s12311-009-0154-0.

PMID:
20082166
10.

A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations.

Brussino A, Vaula G, Cagnoli C, Panza E, Seri M, Di Gregorio E, Scappaticci S, Camanini S, Daniele D, Bradac GB, Pinessi L, Cavalieri S, Grosso E, Migone N, Brusco A.

Eur J Neurol. 2010 Apr;17(4):541-9. doi: 10.1111/j.1468-1331.2009.02844.x. Epub 2009 Dec 4.

PMID:
19961535
11.

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
12.

Mutations in the lamin B1 gene are not present in multiple sclerosis.

Brussino A, D'Alfonso S, Cagnoli C, Di Gregorio E, Barberis M, Padovan S, Vaula G, Pinessi L, Squadrone S, Abete MC, Collimedaglia L, Guerini FR, Migone N, Brusco A.

Eur J Neurol. 2009 Apr;16(4):544-6. doi: 10.1111/j.1468-1331.2009.02536.x.

PMID:
19348623
13.

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.

14.

A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.

Brussino A, Vaula G, Cagnoli C, Mauro A, Pradotto L, Daniele D, Di Gregorio E, Barberis M, Arduino C, Squadrone S, Abete MC, Migone N, Calabrese O, Brusco A.

J Neurol Neurosurg Psychiatry. 2009 Feb;80(2):237-40. doi: 10.1136/jnnp.2008.147330.

15.

Cluster headache attacks and multiple sclerosis.

Gentile S, Ferrero M, Vaula G, Rainero I, Pinessi L.

J Headache Pain. 2007 Sep;8(4):245-7. Epub 2007 Sep 24.

16.

Association of the C677T polymorphism in the MTHFR gene with migraine: a meta-analysis.

Rubino E, Ferrero M, Rainero I, Binello E, Vaula G, Pinessi L.

Cephalalgia. 2009 Aug;29(8):818-25. Epub 2007 Aug 21.

PMID:
17714520
17.

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
18.

Myelin-associated glycoprotein is altered in a familial late-onset orthochromatic leukodystrophy.

Giordana MT, Piccinini M, Palmucci L, Buccinnà B, Ramondetti C, Brusco A, Mongini T, Vaula G, Rinaudo MT.

Brain Pathol. 2005 Apr;15(2):116-23.

PMID:
15912883
19.

Association between the interleukin-1alpha gene and Alzheimer's disease: a meta-analysis.

Rainero I, Bo M, Ferrero M, Valfrè W, Vaula G, Pinessi L.

Neurobiol Aging. 2004 Nov-Dec;25(10):1293-8.

PMID:
15465625
20.

Neurophysiological study in an Italian family with autosomal dominant late-onset leukodystrophy.

Leombruni S, Vaula G, Coletti Moja M, Bergui M, Bergamini L, Quattrocolo G.

Electromyogr Clin Neurophysiol. 1998 Apr-May;38(3):131-5.

PMID:
9637937
21.

MRI and CT in an autosomal-dominant, adult-onset leukodystrophy.

Bergui M, Bradac GB, Leombruni S, Vaula G, Quattrocolo G.

Neuroradiology. 1997 Jun;39(6):423-6.

PMID:
9225322
22.

Autosomal dominant late-onset leukoencephalopathy. Clinical report of a new Italian family.

Quattrocolo G, Leombruni S, Vaula G, Bergui M, Riva A, Bradac GB, Bergamini L.

Eur Neurol. 1997;37(1):53-61. Review.

PMID:
9018034
23.

Primary antiphospholipid syndrome.

Quattrocolo G, Leombruni S, Cerrato P, Vaula G, Tarenzi L, Bergamasco B.

Ital J Neurol Sci. 1995 Sep;16(6):392. No abstract available.

PMID:
8626217
24.

Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis.

Tsuda T, Munthasser S, Fraser PE, Percy ME, Rainero I, Vaula G, Pinessi L, Bergamini L, Vignocchi G, McLachlan DR, et al.

Neuron. 1994 Sep;13(3):727-36.

PMID:
7917302
25.

Assessment of genetic polymorphisms in DNA from formalin fixed neurological tissues.

Mortilla M, Vaula G, St George-Hyslop PH.

Can J Neurol Sci. 1994 Aug;21(3):248-51.

PMID:
8000980
26.

Protein-DNA interactions in the promoter region of the amyloid precursor protein (APP) gene in human neocortex.

Lukiw WJ, Rogaev EI, Wong L, Vaula G, McLachlan DR, St George Hyslop P.

Brain Res Mol Brain Res. 1994 Mar;22(1-4):121-31.

PMID:
8015372
27.

SOD1 missense mutation in an Italian family with ALS.

Rainero I, Pinessi L, Tsuda T, Vignocchi MG, Vaula G, Calvi L, Cerrato P, Rossi B, Bergamini L, McLachlan DR, et al.

Neurology. 1994 Feb;44(2):347-9.

PMID:
8309590
28.

A new Italian pedigree with early-onset Alzheimer's disease.

Rainero I, Bergamini L, Bruni AC, Ferini-Strambi L, Foncin JF, Gei G, Macciardi F, Montesi MP, Pinessi L, Vaula G.

J Geriatr Psychiatry Neurol. 1994 Jan-Mar;7(1):28-32.

PMID:
8192827
29.

Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease.

Rogaev EI, Lukiw WJ, Vaula G, Haines JL, Rogaeva EA, Tsuda T, Alexandrova N, Liang Y, Mortilla M, Amaducci L, Bergamini L, Bruni AC, Foncin JF, Macciardi F, Montesi M, Sorbi S, Rainero I, Pinessi L, Polinsky RJ, Frommelt P, Duara R, Lopez R, Pollen D, Gusella JF, Tanzi R, MacLachlan D, Crapper D, St George-Hyslop PH, et al.

Neurology. 1993 Nov;43(11):2275-9.

PMID:
8232942
30.

A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene.

Tupler R, Rogaeva E, Vaula G, Mortilla M, Lukiw W, Liang Y, Hancock R, Rogaev E, St George-Hyslop P.

Hum Mol Genet. 1993 May;2(5):620. No abstract available.

PMID:
8518820
31.

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

St George-Hyslop P, Haines J, Rogaev E, Mortilla M, Vaula G, Pericak-Vance M, Foncin JF, Montesi M, Bruni A, Sorbi S, Rainero I, Pinessi L, Pollen D, Polinsky R, Nee L, Kennedy J, Macciardi F, Rogaeva E, Liang Y, Alexandrova N, Lukiw W, Schlumpf K, Tanzi R, Tsuda T, Farrer L, Cantu JM, Duara R, Amaducci L, Bergamini L, Gusella J, Roses A, Crapper McLachlan D, et al.

Nat Genet. 1992 Dec;2(4):330-4.

32.

An informative microsatellite repeat polymorphism in the human neurofilament light polypeptide (NEFL) gene.

Rogaev E, Rogaeva E, Lukiw WJ, Vaula G, Liang Y, Hancock R, McLachlan DC, St George-Hyslop PH.

Hum Mol Genet. 1992 Dec;1(9):781. No abstract available.

PMID:
1302625
33.

A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene.

Vaula G, Mortilla M, Tupler R, Lukiw W, Tanzi R, Nee L, Polinsky R, Foncin JF, Bruni AC, Montesi MP, et al.

Neurosci Lett. 1992 Sep 14;144(1-2):46-8.

PMID:
1436713
34.

Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases.

Tanzi RE, Vaula G, Romano DM, Mortilla M, Huang TL, Tupler RG, Wasco W, Hyman BT, Haines JL, Jenkins BJ, et al.

Am J Hum Genet. 1992 Aug;51(2):273-82.

35.

Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene.

Karlinsky H, Vaula G, Haines JL, Ridgley J, Bergeron C, Mortilla M, Tupler RG, Percy ME, Robitaille Y, Noldy NE, et al.

Neurology. 1992 Aug;42(8):1445-53. Erratum in: Neurology 1992 Sep;42(9):1662.

PMID:
1520398
36.

[The genetics of Alzheimer's disease].

Pinessi L, Rainero I, Brunetti E, Cerrato P, Cosentino N, Martino C, Vaula G, Bergamini L.

Minerva Psichiatr. 1992 Jul-Sep;33(3):159-64. Italian.

PMID:
1474878
37.

Familial Alzheimer's disease. Evidences for clinical and genetic heterogeneity.

Bergamini L, Pinessi L, Rainero I, Brunetti E, Cerrato P, Cosentino L, Vaula G, Bruni AC, Ermio C, Gei G, et al.

Acta Neurol (Napoli). 1991 Dec;13(6):534-8.

PMID:
1805554
38.

c-met is amplified but not mutated in a cell line with an activated met tyrosine kinase.

Ponzetto C, Giordano S, Peverali F, Della Valle G, Abate ML, Vaula G, Comoglio PM.

Oncogene. 1991 Apr;6(4):553-9.

PMID:
1674365
39.

[Plasma beta-endorphin and caffeine consumption in chronic hemicrania].

Pinessi L, Piazza D, Vaula G, Rainero I, De Gennaro T, Bergamasco B, Farri A.

Minerva Med. 1990 Oct;81(10):691-5. Italian.

PMID:
2234463

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