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Items: 22

1.

Frequency of Cardiovascular Genetic Risk Factors in a Calabrian Population and Their Effects on Dementia.

Maletta R, Smirne N, Bernardi L, Anfossi M, Gallo M, Conidi ME, Colao R, Puccio G, Curcio SAM, Laganà V, Frangipane F, Cupidi C, Mirabelli M, Vasso F, Torchia G, Muraca MG, Di Lorenzo R, Rose G, Montesanto A, Passarino G, Bruni AC.

J Alzheimers Dis. 2018;61(3):1179-1187. doi: 10.3233/JAD-170687.

PMID:
29332048
2.

The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.

Gallo M, Frangipane F, Cupidi C, De Bartolo M, Turone S, Ferrari C, Nacmias B, Grimaldi G, Laganà V, Colao R, Bernardi L, Anfossi M, Conidi ME, Vasso F, Curcio SAM, Mirabelli M, Smirne N, Torchia G, Muraca MG, Puccio G, Di Lorenzo R, Piccininni M, Tedde A, Maletta RG, Sorbi S, Bruni AC.

Neurobiol Aging. 2017 Aug;56:213.e7-213.e12. doi: 10.1016/j.neurobiolaging.2017.04.017. Epub 2017 Apr 27.

PMID:
28532646
3.

Role of Niemann-Pick Type C Disease Mutations in Dementia.

Cupidi C, Frangipane F, Gallo M, Clodomiro A, Colao R, Bernardi L, Anfossi M, Conidi ME, Vasso F, Curcio SA, Mirabelli M, Smirne N, Torchia G, Muraca MG, Puccio G, Di Lorenzo R, Zampieri S, Romanello M, Dardis A, Maletta RG, Bruni AC.

J Alzheimers Dis. 2017;55(3):1249-1259.

PMID:
27792009
4.

Angela R.: a familial Alzheimer's disease case in the days of Auguste D.

Borrello L, Cupidi C, Laganà V, Anfossi M, Conidi ME, Smirne N, Taverniti M, Guarasci R, Bruni AC.

J Neurol. 2016 Dec;263(12):2494-2498. Epub 2016 Oct 11.

PMID:
27730373
5.

Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family.

Conidi ME, Bernardi L, Puccio G, Smirne N, Muraca MG, Curcio SA, Colao R, Piscopo P, Gallo M, Anfossi M, Frangipane F, Clodomiro A, Mirabelli M, Vasso F, Cupidi C, Torchia G, Di Lorenzo R, Mandich P, Confaloni A, Maletta RG, Bruni AC.

Neurology. 2015 Jun 2;84(22):2266-73. doi: 10.1212/WNL.0000000000001648. Epub 2015 May 6.

6.

Novel N-terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndrome.

Bernardi L, Cupidi C, Frangipane F, Anfossi M, Gallo M, Conidi ME, Vasso F, Colao R, Puccio G, Curcio SAM, Mirabelli M, Clodomiro A, Di Lorenzo R, Smirne N, Maletta R, Bruni AC.

Neurobiol Aging. 2014 Nov;35(11):2657.e7-2657.e11. doi: 10.1016/j.neurobiolaging.2014.06.006. Epub 2014 Jun 14.

PMID:
25022973
7.

Frontotemporal dementia and its subtypes: a genome-wide association study.

Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, Hernández I, Ruiz A, Boada M, Borroni B, Padovani A, Cruchaga C, Cairns NJ, Benussi L, Binetti G, Ghidoni R, Forloni G, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Waldö ML, Nilsson K, Nilsson C, Mackenzie IR, Hsiung GY, Mann DM, Grafman J, Morris CM, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED, Wassermann EM, Baborie A, Jaros E, Tierney MC, Pastor P, Razquin C, Ortega-Cubero S, Alonso E, Perneczky R, Diehl-Schmid J, Alexopoulos P, Kurz A, Rainero I, Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F, Giaccone G, Rowe JB, Schlachetzki JC, Uphill J, Collinge J, Mead S, Danek A, Van Deerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Deschamps W, Van Langenhove T, Cruts M, Van Broeckhoven C, Cappa SF, Le Ber I, Hannequin D, Golfier V, Vercelletto M, Brice A, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pichler S, Gu W, Rossor MN, Fox NC, Warren JD, Spillantini MG, Morris HR, Rizzu P, Heutink P, Snowden JS, Rollinson S, Richardson A, Gerhard A, Bruni AC, Maletta R, Frangipane F, Cupidi C, Bernardi L, Anfossi M, Gallo M, Conidi ME, Smirne N, Rademakers R, Baker M, Dickson DW, Graff-Radford NR, Petersen RC, Knopman D, Josephs KA, Boeve BF, Parisi JE, Seeley WW, Miller BL, Karydas AM, Rosen H, van Swieten JC, Dopper EG, Seelaar H, Pijnenburg YA, Scheltens P, Logroscino G, Capozzo R, Novelli V, Puca AA, Franceschi M, Postiglione A, Milan G, Sorrentino P, Kristiansen M, Chiang HH, Graff C, Pasquier F, Rollin A, Deramecourt V, Lebert F, Kapogiannis D, Ferrucci L, Pickering-Brown S, Singleton AB, Hardy J, Momeni P.

Lancet Neurol. 2014 Jul;13(7):686-99. doi: 10.1016/S1474-4422(14)70065-1.

8.

Genetics in degenerative dementia: current status and applicability.

Bruni AC, Conidi ME, Bernardi L.

Alzheimer Dis Assoc Disord. 2014 Jul-Sep;28(3):199-205. doi: 10.1097/WAD.0000000000000046. Review.

PMID:
24805970
9.

Identification of three novel LRRK2 mutations associated with Parkinson's disease in a Calabrian population.

Anfossi M, Colao R, Gallo M, Bernardi L, Conidi ME, Frangipane F, Vasso F, Puccio G, Clodomiro A, Mirabelli M, Curcio SA, Torchia G, Smirne N, Di Lorenzo R, Maletta R, Bruni AC.

J Alzheimers Dis. 2014;38(2):351-7. doi: 10.3233/JAD-130689.

PMID:
23963289
10.

Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation.

Bernardi L, Gallo M, Anfossi M, Conidi ME, Colao R, Puccio G, Curcio SA, Frangipane F, Clodomiro A, Mirabelli M, Vasso F, Smirne N, Di Lorenzo R, Maletta R, Bruni AC.

J Alzheimers Dis. 2013;37(2):285-9. doi: 10.3233/JAD-130119.

PMID:
23792692
11.

Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.

Bernardi L, Frangipane F, Smirne N, Colao R, Puccio G, Curcio SA, Mirabelli M, Maletta R, Anfossi M, Gallo M, Geracitano S, Conidi ME, Di Lorenzo R, Clodomiro A, Cupidi C, Marzano S, Comito F, Valenti V, Zirilli MA, Ghani M, Xi Z, Sato C, Moreno D, Borelli A, Leone RA, St George-Hyslop P, Rogaeva E, Bruni AC.

Neurobiol Aging. 2012 Dec;33(12):2948.e1-2948.e10. doi: 10.1016/j.neurobiolaging.2012.06.017. Epub 2012 Jul 20.

12.

Nasal nitric oxide and nitric oxide synthase expression in primary ciliary dyskinesia.

Pifferi M, Bush A, Maggi F, Michelucci A, Ricci V, Conidi ME, Cangiotti AM, Bodini A, Simi P, Macchia P, Boner AL.

Eur Respir J. 2011 Mar;37(3):572-7. doi: 10.1183/09031936.00044310. Epub 2011 Jan 27.

13.

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.

Michelucci A, Ghirri P, Iacopetti P, Conidi ME, Fogli A, Baldinotti F, Lunardi S, Forli F, Moscuzza F, Berrettini S, Boldrini A, Simi P, Pellegrini S.

Int J Pediatr Otorhinolaryngol. 2010 Dec;74(12):1441-4. doi: 10.1016/j.ijporl.2010.09.006. Epub 2010 Oct 12.

PMID:
20943277
14.

A new truncating MPZ mutation associated with a very mild CMT1 B phenotype.

Piazza S, Baldinotti F, Fogli A, Conidi ME, Michelucci A, Ienco EC, Mancuso M, Simi P, Siciliano G.

Neuromuscul Disord. 2010 Dec;20(12):817-9. doi: 10.1016/j.nmd.2010.08.003. Epub 2010 Sep 17.

PMID:
20850974
15.

Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.

Battini R, Fogli A, Borghetti D, Michelucci A, Perazza S, Baldinotti F, Conidi ME, Ferreri MI, Simi P, Cioni G.

Eur J Neurol. 2011 Jan;18(1):150-7. doi: 10.1111/j.1468-1331.2010.03102.x.

PMID:
20550563
16.

New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure.

Pifferi M, Michelucci A, Conidi ME, Cangiotti AM, Simi P, Macchia P, Boner AL.

Eur Respir J. 2010 Jun;35(6):1413-6. doi: 10.1183/09031936.00186209. No abstract available.

17.

A girl with tomboy behavior: lesson from misdiagnosis in a baby with ambiguous genitalia.

Dati E, Baldinotti F, Conidi ME, Simi P, Baroncelli GI, Bertelloni S.

Sex Dev. 2010;4(3):150-4. doi: 10.1159/000273265. Epub 2009 Dec 30.

PMID:
20051677
18.

Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.

Fogli A, Battini R, Baldinotti F, Conidi ME, Michelucci A, Simi P.

Hum Genet. 2009 Aug;126(2):340. No abstract available.

PMID:
19694022
19.

Gene symbol: JAG1. Disease: Alagille syndrome.

Conidi ME, Michelucci A, Maggiore G, Simi P.

Hum Genet. 2008 Oct;124(3):322. No abstract available.

PMID:
18846686
20.

Gene symbol: JAG1. Disease: Alagille syndrome.

Conidi ME, Michelucci A, Maggiore G, Simi P.

Hum Genet. 2008 Oct;124(3):322. No abstract available.

PMID:
18846681
21.

Gene symbol: JAG1. Disease: Alagille syndrome.

Conidi ME, Michelucci A, Maggiore G, Simi P.

Hum Genet. 2008 Oct;124(3):321-2. No abstract available.

PMID:
18846680
22.

Gene symbol: CHD7. Disease: CHARGE syndrome.

Simi P, Michelucci A, Iacopetti P, Pellegrini S, Conidi ME.

Hum Genet. 2008 Jun;123(5):549. No abstract available.

PMID:
20960640

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