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Your search keyword '"Corengia, E."' showing total 16 results
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16 results on '"Corengia, E."'

3. Linguistic, psychometric validation and diagnostic ability assessment of an Italian version of a 19-item wearing-off questionnaire for wearing-off detection in Parkinson’s disease

Author

Abbruzzese, G, Antonini, A, Barone, P, Stocchi, F, Tamburini, T, Bernardi, L, Amboni, M, Vacca, L, Posocco, V, Colombo, D, (on behalf of DEEP study group Abbruzzese, G, Albanese, A, Bentivoglio, AR, Bono, G, Bonuccelli, U, Cannas, A, Ceravolo, R, Ceravolo, MG, C.i.c.a.r.e.l.l.i. G: C.i.n.c.o.t.t.a. M, Corengia, E, De Pandis, MF, Eleopra, R, Lamberti, P, L.o.p.i.a.n.o. L, Manzo, V, Marconi, R, Mauro, A, Michelucci, R, Morgante, F, Onofrj, M, Pezzoli ,G, Pisan,i V, Pisano, F, Pramstaller, PP, Priori, A, Quatrale, R, Quattrone, A, Ruggieri S. Scarzella L., Stocchi F., Tinazzi M., Valzania F., Zappia M., D'AMELIO, Marco, Abbruzzese, G, Antonini, A, Barone, P, Stocchi, F, Tamburini, T, Bernardi, L, Amboni, M, Vacca, L, Posocco, V, Colombo, D, (on behalf of DEEP study group - Abbruzzese, G, Albanese, A, Bentivoglio, AR, Bono, G, Bonuccelli, U, Cannas, A, Ceravolo, R, Ceravolo, MG, Cicarelli. G: Cincotta. M, Corengia, E, D’Amelio, M, De Pandis, MF, Eleopra, R, Lamberti, P, Lopiano. L, Manzo, V, Marconi, R, Mauro, A, Michelucci, R, Morgante, F, Onofrj, M, Pezzoli ,G, Pisan,i V, Pisano, F, Pramstaller, PP, Priori, A, Quatrale, R, Quattrone, A, and Ruggieri S. Scarzella L., Stocchi F., Tinazzi M., Valzania F., Zappia M.

Subjects
Parkinson's disease wearing off, motor fluctuations
Published
2012

4. Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease

Author

Di Fonzo, A, Tassorelli, C, De Mari, M, Chien, Hf, Ferreira, J, Rohé, Cf, Riboldazzi, G, Antonini, A, Albani, G, Mauro, A, Marconi, R, Abbruzzese, G, Lopiano, L, Fincati, E, Guidi, M, Marini, P, Stocchi, F, Onofrj, M, Toni, V, Tinazzi, M, Fabbrini, G, Lamberti, P, Vanacore, N, Meco, G, Leitner, P, Uitti, Rj, Wszolek, Zk, Gasser, T, Simons, Ej, Breedveld, Gj, Goldwurm, S, Pezzoli, G, Sampaio, C, Barbosa, E, Martignoni, E, Oostra, Ba, Bonifati, V, Vancore, N, Fabrizio, E, Locuratolo, N, Martini, L, Scoppetta, C, Colosimo, C, Manfredi, Ma, Tavella, A, Bergamasco, B, Pacchetti, C, Nappi, G, Canesi, M, Calandrella, D, Brono, G, Manfredi, Mi, Raudino, F, Corengia, E, Bonizzato, A, Ferracci, C, Dalla Libera, A, Marchese, R, Montagna, P, Ramat, S, Massaro, F, Minardi, C, Rasi, F, Thomas, A, Vacca, L, De Pandis, F, Diroma, C, Iliceto, G, Trianni, G, De Gaetano, A, Rizzo, M, and Cossu, G.

Published
2006

15. NOTCH3 gene mutations in subjects clinically suspected of CADASIL.

Author

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, and Penco S

Subjects
Adult, Aged, Amino Acid Substitution genetics, CADASIL metabolism, Female, Genetic Predisposition to Disease epidemiology, Genetic Variation genetics, Humans, Italy epidemiology, Male, Middle Aged, Protein Structure, Tertiary genetics, Receptor, Notch3, Receptors, Notch deficiency, Young Adult, CADASIL diagnosis, CADASIL genetics, Genetic Predisposition to Disease genetics, Point Mutation genetics, Receptors, Notch genetics
Abstract

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations involving loss or gain of a cysteine residue in the NOTCH3 gene. A cluster of mutations around exons 3 and 4 was originally reported. Identification of pathogenic mutation is important for diagnostic confirmation of the disease, however genetic counselling and testing of relatives at risk is critical in mutation carriers., Methods: Mutation analysis of the NOTCH3 gene was performed through direct sequencing in 140 patients with clinical suspicion of CADASIL. Patients underwent genetic counselling pre and post testing. The 2-23 exons containing all EGF-like domains were screened., Results: 14 familial forms of the disease have been identified with 14 different causative mutations in exons 2, 3, 4, 5, 7, 10, 14, 19, 20 and 22 of the NOTCH3 gene; no pathogenetic mutations have been identified in exons 6 and 8; several genetic variations both in coding as well as in intronic regions were identified too., Conclusions: Our data confirm the importance of screening the whole EGF-like domains region of NOTCH3 gene for the molecular diagnosis of CADASIL among the Italian population too. Moreover genetic variants different from loss or gain of a cysteine residue are identified and presented., (Copyright © 2011 Elsevier B.V. All rights reserved.)

Published
2011
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16. Reproductive life milestones in women with Parkinson's disease.

Author

Martignoni E, Nappi RE, Citterio A, Calandrella D, Zangaglia R, Mancini F, Corengia E, Riboldazzi G, Polatti F, and Nappi G

Subjects
Adolescent, Adult, Aged, Aged, 80 and over, Child, Climacteric physiology, Estrogen Replacement Therapy, Female, Follicle Stimulating Hormone blood, Genital Diseases, Female epidemiology, Humans, Menarche physiology, Menopause physiology, Middle Aged, Pregnancy, Surveys and Questionnaires, Life Change Events, Parkinson Disease, Reproduction physiology
Abstract

Reproductive life milestones were studied in 150 unselected women with idiopathic Parkinson's disease (PD) and in 300 postmenopausal healthy women (PM). Duration of reproductive life was found to be similar in the two groups. The women with PD reported significantly more premenstrual symptoms, fewer deliveries and abortions, and less use of contraception. Time and mode of menopause onset were similar in PD and PM, but the PD women reported significantly more hot flushes, less insomnia, depression, urinary incontinence and dyspareunia, and less recourse to hormone replacement therapy than the PM women. Women diagnosed with PD before the menopause reported more premenstrual symptoms and contraceptive use compared with those with postmenopausal PD onset, as well as a premenstrual worsening of PD symptoms in more than 50% of cases. Our data indicate poor adaptation of neuronal pathways to the hormonal fluctuations of reproductive life in women with PD, supporting the existence of a qualitative relationship between PD and reproductive events.

Published
2003

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