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Items: 49

1.

Maternal germline mosaicism in Fabry disease.

Pianese L, Fortunato A, Silvestri S, Solano FG, Burlina A, Burlina AP, Ragno M.

Neurol Sci. 2019 Jun;40(6):1279-1281. doi: 10.1007/s10072-019-03754-1. Epub 2019 Feb 14.

PMID:
30762167
2.

A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: Are we pointing towards a disease spectrum?

Favaretto S, Margoni M, Salviati L, Pianese L, Manara R, Baracchini C.

J Neurol Sci. 2019 Jan 15;396:108-111. doi: 10.1016/j.jns.2018.11.008. Epub 2018 Nov 10. No abstract available.

PMID:
30447605
3.

Cutaneous sensory and autonomic denervation in CADASIL.

Nolano M, Provitera V, Donadio V, Caporaso G, Stancanelli A, Califano F, Pianese L, Liguori R, Santoro L, Ragno M.

Neurology. 2016 Mar 15;86(11):1039-44. doi: 10.1212/WNL.0000000000002468. Epub 2016 Feb 12.

PMID:
26873958
4.

Parkinsonism in a pair of monozygotic CADASIL twins sharing the R1006C mutation: a transcranial sonography study.

Ragno M, Sanguigni S, Manca A, Pianese L, Paci C, Berbellini A, Cozzolino V, Gobbato R, Peluso S, De Michele G.

Neurol Sci. 2016 Jun;37(6):875-81. doi: 10.1007/s10072-016-2497-x. Epub 2016 Feb 5.

PMID:
26850715
5.

Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report.

Ragno M, Di Marzio F, Fuccio C, Pianese L, Cozzolino V, Carboni T, Cinti A, D'Andreamatteo G, Trojano L, Mignarri A, Gallus GN, Dotti MT.

Clin Neurol Neurosurg. 2015 Dec;139:221-3. doi: 10.1016/j.clineuro.2015.10.020. Epub 2015 Oct 17. No abstract available.

PMID:
26519892
6.

APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL.

Gesierich B, Opherk C, Rosand J, Gonik M, Malik R, Jouvent E, Hervé D, Adib-Samii P, Bevan S, Pianese L, Silvestri S, Dotti MT, De Stefano N, van der Grond J, Boon EM, Pescini F, Rost N, Pantoni L, Oberstein SA, Federico A, Ragno M, Markus HS, Tournier-Lasserve E, Chabriat H, Dichgans M, Duering M, Ewers M.

J Cereb Blood Flow Metab. 2016 Jan;36(1):199-203.

7.

Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.

Opherk C, Gonik M, Duering M, Malik R, Jouvent E, Hervé D, Adib-Samii P, Bevan S, Pianese L, Silvestri S, Dotti MT, De Stefano N, Liem M, Boon EM, Pescini F, Pachai C, Bracoud L, Müller-Myhsok B, Meitinger T, Rost N, Pantoni L, Lesnik Oberstein S, Federico A, Ragno M, Markus HS, Tournier-Lasserve E, Rosand J, Chabriat H, Dichgans M.

Stroke. 2014 Apr;45(4):968-72. doi: 10.1161/STROKEAHA.113.004461. Epub 2014 Feb 27.

PMID:
24578207
8.

Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients.

Morroni M, Marzioni D, Ragno M, Di Bella P, Cartechini E, Pianese L, Lorenzi T, Castellucci M, Scarpelli M.

PLoS One. 2013 Jun 17;8(6):e65482. doi: 10.1371/journal.pone.0065482. Print 2013.

9.

"CADASIL coma" in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation.

Ragno M, Pianese L, Morroni M, Cacchiò G, Manca A, Di Marzio F, Silvestri S, Miceli C, Scarcella M, Onofrj M, Trojano L.

Neurol Sci. 2013 Nov;34(11):1947-53. doi: 10.1007/s10072-013-1418-5. Epub 2013 Apr 10.

PMID:
23572112
10.

Parkinsonism is a late, not rare, feature of CADASIL: a study on Italian patients carrying the R1006C mutation.

Ragno M, Berbellini A, Cacchiò G, Manca A, Di Marzio F, Pianese L, De Rosa A, Silvestri S, Scarcella M, De Michele G.

Stroke. 2013 Apr;44(4):1147-9. doi: 10.1161/STROKEAHA.111.000458. Epub 2013 Feb 14.

PMID:
23412372
11.

Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): report of a case with a six-year follow-up.

Ragno M, Trojano L, Pianese L, Boni MV, Silvestri S, Mambelli V, Lorenzi T, Scarpelli M, Morroni M.

Histol Histopathol. 2012 Oct;27(10):1307-14. doi: 10.14670/HH-27.1307.

PMID:
22936449
12.

Primary pancreatic lymphoma in a patient with maturity onset diabetes of the young type 3.

Bozzoli V, Tisi MC, Pianese L, Tumini S, Rufini V, Calcagni ML, Pitocco D, Larghi A, Larocca LM, Massini G, Teofili L, D'Alò F, Hohaus S.

Mediterr J Hematol Infect Dis. 2012;4(1):e2012005. doi: 10.4084/MJHID.2012.005. Epub 2012 Jan 18.

13.

Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation.

Ragno M, Pianese L, Cacchiò G, Manca A, Scarcella M, Silvestri S, Di Marzio F, Caiazzo AR, Silvaggio F, Tasca G, Mirabella M, Trojano L.

Neurosci Lett. 2012 Jan 6;506(1):116-20. doi: 10.1016/j.neulet.2011.10.062. Epub 2011 Nov 2.

PMID:
22079340
14.

[MODY 3 correlations between the genotype and clinical manifestations of diabetes].

Simonella G, Pianese L, Vichi G, Staffolani P, Morosini P.

Recenti Prog Med. 2011 Oct;102(10):387-91. doi: 10.1701/955.10452. Italian.

PMID:
21989397
15.

Shorter telomeres in patients with cerebral autosomal dominant arteriopathy and leukoencephalopathy (CADASIL).

Ragno M, Pianese L, Pinelli M, Silvestri S, Cacchiò G, Di Marzio F, Scarcella M, Coretti F, Altamura F, Monticelli A, Castaldo I.

Neurogenetics. 2011 Nov;12(4):337-43. doi: 10.1007/s10048-011-0298-1. Epub 2011 Sep 1.

PMID:
21881852
16.

A new de novo mutation in the GCK gene causing MODY2.

Cappelli A, Silvestri S, Tumini S, Carinci S, Cipriano P, Massi L, Staffolani P, Pianese L.

Diabetes Res Clin Pract. 2011 Jul;93(1):e41-3. doi: 10.1016/j.diabres.2011.04.006. Epub 2011 Apr 22.

PMID:
21514682
17.

High recurrence of the R1006C NOTCH3 mutation in central Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Cappelli A, Ragno M, Cacchiò G, Scarcella M, Staffolani P, Pianese L.

Neurosci Lett. 2009 Sep 22;462(2):176-8. doi: 10.1016/j.neulet.2009.06.087. Epub 2009 Jul 2.

PMID:
19576955
18.

Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.

Cappelli A, Tumini S, Consoli A, Carinci S, Piersanti C, Ruggiero G, Simonella G, Soletti F, Staffolani P, Pianese L.

Diabetes Res Clin Pract. 2009 Mar;83(3):e72-4. doi: 10.1016/j.diabres.2008.12.007. Epub 2009 Jan 15.

PMID:
19150152
19.

Down-regulation of otospiralin mRNA in response to acoustic stress in guinea pig.

Caravelli A, Pianese L, Saulino C, Di Leva F, Sequino L, Cocozza S, Marciano E, Franzé A.

Hear Res. 2004 Dec;198(1-2):36-40.

PMID:
15567600
20.

Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia.

Pollard LM, Sharma R, Gómez M, Shah S, Delatycki MB, Pianese L, Monticelli A, Keats BJ, Bidichandani SI.

Nucleic Acids Res. 2004 Nov 8;32(19):5962-71. Print 2004.

21.

Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers.

Pianese L, Turano M, Lo Casale MS, De Biase I, Giacchetti M, Monticelli A, Criscuolo C, Filla A, Cocozza S.

J Neurol Neurosurg Psychiatry. 2004 Jul;75(7):1061-3.

22.

Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype.

Giacchetti M, Monticelli A, De Biase I, Pianese L, Turano M, Filla A, De Michele G, Cocozza S.

J Med Genet. 2004 Apr;41(4):293-5. No abstract available.

23.

New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.

Monticelli A, Giacchetti M, De Biase I, Pianese L, Turano M, Pandolfo M, Cocozza S.

Hum Genet. 2004 Apr;114(5):458-63. Epub 2004 Feb 7.

PMID:
14767759
24.

3-Nitropropionic acid increases frataxin expression in human lymphoblasts and in transgenic rat PC12 cells.

Turano M, Tammaro A, De Biase I, Lo Casale MS, Ruggiero G, Monticelli A, Cocozza S, Pianese L.

Neurosci Lett. 2003 Oct 30;350(3):184-6.

PMID:
14550925
25.

Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells.

Pianese L, Busino L, De Biase I, De Cristofaro T, Lo Casale MS, Giuliano P, Monticelli A, Turano M, Criscuolo C, Filla A, Varrone S, Cocozza S.

Hum Mol Genet. 2002 Nov 1;11(23):2989-96.

PMID:
12393810
26.

Identification of a novel transcript of X25, the human gene involved in Friedreich ataxia.

Pianese L, Tammaro A, Turano M, De Biase I, Monticelli A, Cocozza S.

Neurosci Lett. 2002 Mar 8;320(3):137-40.

PMID:
11852181
27.

Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene.

De Michele G, Filla A, Cavalcanti F, Tammaro A, Monticelli A, Pianese L, Di Salle F, Perreti A, Santoro L, Caruso G, Cocozza S.

Neurology. 2000 Jan 25;54(2):496-9.

PMID:
10668723
28.

Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study.

Coppola G, De Michele G, Cavalcanti F, Pianese L, Perretti A, Santoro L, Vita G, Toscano A, Amboni M, Grimaldi G, Salvatore E, Caruso G, Filla A.

J Neurol. 1999 May;246(5):353-7.

PMID:
10399865
29.
30.

Determinants of onset age in Friedreich's ataxia.

De Michele G, Filla A, Criscuolo C, Scarano V, Cavalcanti F, Pianese L, Monticelli A, Cocozza S.

J Neurol. 1998 Mar;245(3):166-8.

PMID:
9553847
31.

Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia.

Ragno M, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Curatola L, Bollettini F, Cocozza S, Caruso G, Santoro L, Filla A.

Neurology. 1997 Dec;49(6):1617-20.

PMID:
9409356
32.

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, Pianese L, Iodice L, Farina G, Monticelli A, Turano M, Filla A, De Michele G, Cocozza S.

Hum Mol Genet. 1997 Aug;6(8):1261-6.

PMID:
9259271
33.

Frataxin fracas.

Cossée M, Campuzano V, Koutnikova H, Fischbeck K, Mandel JL, Koenig M, Bidichandani SI, Patel PI, Moltè MD, Cañizares J, De Frutos R, Pianese L, Cavalcanti F, Monticelli A, Cocozza S, Montermini L, Pandolfo M.

Nat Genet. 1997 Apr;15(4):337-8. No abstract available.

PMID:
9090376
34.

The effect of parental gender on the GAA dynamic mutation in the FRDA gene.

Pianese L, Cavalcanti F, De Michele G, Filla A, Campanella G, Calabrese O, Castaldo I, Monticelli A, Cocozza S.

Am J Hum Genet. 1997 Feb;60(2):460-3. No abstract available.

35.

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.

Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S.

Am J Hum Genet. 1996 Sep;59(3):554-60.

36.

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M.

Science. 1996 Mar 8;271(5254):1423-7.

PMID:
8596916
37.

The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13.

Montermini L, Rodius F, Pianese L, Moltò MD, Cossée M, Campuzano V, Cavalcanti F, Monticelli A, Palau F, Gyapay G, et al.

Am J Hum Genet. 1995 Nov;57(5):1061-7. Erratum in: Am J Hum Genet 1995 Dec;57(6):1520.

38.

Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family.

Filla A, De Michele G, Banfi S, Santoro L, Perretti A, Cavalcanti F, Pianese L, Castaldo I, Barbieri F, Campanella G, et al.

Neurology. 1995 Apr;45(4):793-6.

PMID:
7723972
39.

Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.

De Michele G, Filla A, Cavalcanti F, Di Maio L, Pianese L, Castaldo I, Calabrese O, Monticelli A, Varrone S, Campanella G, et al.

J Neurol Neurosurg Psychiatry. 1994 Aug;57(8):977-9.

40.

Isolation of a new gene in the Friedreich ataxia candidate region on human chromosome 9 by cDNA direct selection.

Pandolfo M, Pizzuti A, Redolfi E, Munaro M, Di Donato S, Cavalcanti F, Filla A, Monticelli A, Pianese L, Cocozza S.

Biochem Med Metab Biol. 1994 Aug;52(2):115-9.

PMID:
7993657
41.

Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population.

Pianese L, Cocozza S, Campanella G, Castaldo I, Cavalcanti F, De Michele G, Filla A, Monticelli A, Munaro M, Redolfi E, et al.

J Med Genet. 1994 Feb;31(2):133-5.

42.

A dinucleotide repeat polymorphism (D9S202) in the Friedreich's ataxia region on chromosome 9q13-q21.1.

Pandolfo M, Munaro M, Cocozza S, Redolfi EM, Pianese L, Cavalcanti F, Monticelli A, Di Donato S.

Hum Mol Genet. 1993 Jun;2(6):822. No abstract available.

PMID:
8353506
43.

Evidence of a genetic marker associated with early onset in Friedreich's ataxia.

Cocozza S, Antonelli A, Campanella G, Cavalcanti F, De Michele G, Di Donato S, Filla A, Monticelli A, Pianese L, Piccinelli A, et al.

J Neurol. 1993;240(4):254-6.

PMID:
8496716
44.

Friedreich's disease. A linkage study in southern and central Italy.

Cavalcanti F, Cocozza S, Filla A, De Michele G, Pianese L, Porcellini A, Monticelli A, Pandolfo M, Banfi S, Varrone S, et al.

Acta Neurol (Napoli). 1992 Aug-Dec;14(4-6):519-23.

PMID:
1363458
45.

NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene.

Cocozza S, Porcellini A, Riccardi G, Monticelli A, Condorelli G, Ferrara A, Pianese L, Miele C, Capaldo B, Beguinot F, et al.

Diabetes. 1992 Apr;41(4):521-6.

PMID:
1607076
46.

Mutations in insulin-receptor gene. Val996 allele in white NIDDM patients.

Porcellini A, Cocozza S, Monticelli A, Pianese L, Riccardi G, Ferrara A, Varrone S.

Diabetes Care. 1992 Apr;15(4):591-2. No abstract available.

PMID:
1499491
47.

[Early oral manifestations in patients with Hodgkin's disease].

Sammartino G, Pianese L, Nicolo M.

Arch Stomatol (Napoli). 1986 Jan-Mar;27(1):67-70. Italian. No abstract available.

PMID:
3465290
48.

[Jaffe-Lichtenstein dysplasia. A review of the literature. A report of clinical cases].

Bucci E, Sammartino G, Pianese L, Sorrentino F, Bucci P.

Minerva Stomatol. 1984 Mar-Apr;33(2):217-22. Review. Italian. No abstract available.

PMID:
6371475
49.

[Current assistance and rehabilitative trends, in dentistry, for individuals with handicaps].

Catalano C, Pianese L, Di Maro E, Ingenito A.

Arch Stomatol (Napoli). 1984 Jan-Mar;25(1):121-7. Italian. No abstract available.

PMID:
6242284

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