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3. Molecular Genetic Evidence for Etiologic Heterogeneity of Alzheimer’s Disease

Author

St George-Hyslop, P. H., McLachlan, D. R. Crapper, Haines, J. L., Bruni, A., Foncin, J.-F., Lukiw, W., Montesi, M. P., Mortilla, M., Pinessi, L., Polinsky, R. J., Pollen, D., Rainero, I., Rogaev, E., Sorbi, S., Tanzi, R., Tupler, R., Vaula, G., Christen, Yves, editor, Boller, Francois, editor, Forette, F., editor, Khachaturian, Z. S., editor, and Poncet, Michel, editor

Published
1992
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7. Structural and metabolic brain abnormalities in preclinical cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy

Author

Stromillo, M.L., Dotti, M.T., Battaglini, M., Mortilla, M., Bianchi, S., Plewnia, K., Pantoni, L., Inzitari, D., Federico, A., and De Stefano, N.

Subjects
CADASIL -- Development and progression, CADASIL -- Research, Brain -- Abnormalities, Brain -- Physiological aspects, Brain -- Research, Health, Psychology and mental health
Published
2009

20. Reliability, practice effects, and change indices for Rao’s brief repeatable battery

Author

Portaccio, E., Goretti, B., Zipoli, V., Iudice, A., Pina, D. D., Malentacchi, G. M., Sabatini, S., Annunziata, Pasquale, Falcini, M., Mazzoni, M., Amato, M. P., TUSCIMS STUDY GROUP, Siracusa, G., Masini, M., Ancona, A. L., Bartolini, S., Annunziata, P., Pucci, B., Pasquali, L., Malentacchi, M., Plewnia, K., Della Pina, D., Vista, M., Ulivelli, Monica, Bartalini, Sabina, DE STEFANO, Nicola, Stromillo, MARIA LAURA, Spera, C., Mortilla, M., Fonda, C., and Bugarini, G.

Subjects
Adult, Male, medicine.medical_specialty, Multiple Sclerosis, Paced Auditory Serial Addition Test, Intraclass correlation, Neuropsychological Tests, Audiology, Developmental psychology, symbols.namesake, medicine, Humans, Effects of sleep deprivation on cognitive performance, Cognitive rehabilitation therapy, Reliability (statistics), cognitive impairment, cognitive impairment, multiple sclerosis, practice effects, reliability, reliability, medicine.diagnostic_test, Reproducibility of Results, Repeated measures design, Bonferroni correction, Neurology, symbols, Female, Neurology (clinical), practice effects, Cognition Disorders, Psychology, Stroop effect
Abstract

The role of cognitive impairment in multiple sclerosis is now widely recognized. However, there is a dearth of research on variability and practice effects of neuropsychological measures when repeated over time. The objective was to assess reliability and practice effects for Rao’s Brief Repeatable Battery of neurophysiological tests and the Stroop Test, and to provide data for correction for variability and practice effects in serial assessments.In 54 healthy controls (34 women, mean age 38.3 ± 9.1 years, mean education 12.9 ± 3.3 years), the Brief Repeatable Battery and Stroop Test were administered 3 times with an 18-month interval. Reliability was assessed by intraclass correlation coefficient and practice effects by an analysis of variance with Bonferroni’s correction for repeated measures. Test—retest reliability was from adequate to good on the Symbol Digit Modalities Test, the Stroop Test, and the Paced Auditory Serial Addition Test. The great majority of tests showed at least a moderate practice effects. Data for calculation of an individual’s change in cognitive performance for each test of the Brief Repeatable Battery and the Stroop Test were provided. Our results provide relevant information for planning and interpreting longitudinal studies on cognition and cognitive rehabilitation in multiple sclerosis.

Published
2010
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24. VIe Symposium International d’Endoscopie Digestive

Author

Buset, M., Baize, M., Dez Marez, B., Bourgeois, N., De Boelpaepe, C., De Toeuf, J., Cremer, M., Cusumano, A., Norberto, L., Martella, B., Buin, F., Aneona, E., Lambert, R., Spinelli, P., Dal Fants, M., Rey, J. F., Greff, M., Brunetaud, J. M., Maunoury, V., Mudry, J., Paris, C., Rutgeerts, P., Geboes, K., Philippeth, L., Broeckaert, L., Coremans, G., Vantrappen, G., Dunham, F., Marlière, Ph., Gulbis, A., Reeders, Jacques, Tytgat, Guido, Maratka, Zdenek, Rozen, P., Deltenre, M., De Reuck, M., Jonas, C., Burette, A., Bidart, J. M., Castro, R., Laurent, J. X., Verdier, A., Vicari, F., Stessens, L., Van den Oord, J., De Wolf-Peeters, G., Ponette, S., Van Meerhaeghe, X., Van Ganse, W., Ghillebert, G., Vanneste, A., Meessen, J. P., Mourin-Jouret, A., Jungers, M., Haot, J., Vanheuverzwyn, R., Rossoni, R., Polito, D., Oselladore, D., Stevanato, G., Pincione, F., Vinciguerre, G., Troiani, R., Lombardi, M., Dell’Amico, I., Ambrogi, M., Sicari, A., Farella, S., Cola, B., Mortilla, M. G., Giardino, R., Franchini, A., Dell’ Anna, A., Neri, A., Piccione, M., Ferrara, M., Miscusi, G., Lemper, J C, Laurent, P, Morobe, J, Van Laethem, A, Risa, L., Masoni, L., Janssens, J., Laporta, T., Soehendra, N., Kempeneers, I., Van Gossum, M., Osmani, A., Van Gossum, A., Costamagna, G., Montori, A., Buecino, R. V., Ciolfi, F., Masi, V., Gilbert, D., Hallstrom, A., Silverstein, F., Shaneyfelt, S., Aertsen, P., Sahel, J., Sarles, H., Deviere, J., Gulbis, B., Delhaye, M., Adler, M., Depelchin, P., Philippart, Y., Quenon, M., Russo, A., Giannone, G., Delvaux, M., Escourrou, J., Senegas-Balas, F., Balas, D., Bastié, M J., Bertrand, C., Ribet, A., Van der Spek, P., Espeel, M., Cornelis, A., Roels, F., Dino, Amadori, Alberto, Ravaioli, Marilena, Liverani, Ruggero, Riflolfi, Debongnie, J. C., Legros, G., Beyaert, C., Cora, G. A., Peracchia, A., Cristallini, E., Fatale, G. P., Ribacchi, R., Barberani, F., Delia Spoletina, A., Rossi, P., Carpinelli, D., Fontaniére, B., Faucon, K., Mayer, M., Papillon, J., Labadie, M., Berger, F., Liaras, A., Bret, Pa., Bretagnolle, M., Fond, A., Minaire, Y., Bouvet, B., Tribukait, Bernhard, Lamouliatte, H., Bondonny, J. M., and Battin, J.

Published
1985
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27. Reliability, practice effects, and change indices for Rao's Brief Repeatable Battery

Author

Portaccio, E, Goretti, B, Zipoli, V, Iudice, Alfonso, Pina, Dd, Malentacchi, Gm, Sabatini, S, Annunziata, P, Falcini, M, Mazzoni, M, PIA AMATO, M, TUSCIMS STUDY GROUP AMATO MP, Siracusa, G, Masini, M, Ancona, Al, Bartolini, S, Pucci, B, Iudice, A, Pasquali, Livia, Malentacchi, M, Plewnia, K, DELLA PINA, D, Vista, M, Ulivelli, M, Bartalini, S, DE STEFANO, N, Stromillo, Ml, Spera, C, Mortilla, M, Fonda, C, and Bugarini, G.

Published
2010

28. RELEVANCE OF COGNITIVE DETERIORATION IN EARLY RELAPSING-REMITTING MS: A 3-YEAR FOLLOW-UP STUDY

Author

Amato, Mp, Portaccio, E, Goretti, B, Zipoli, V, Siracusa, G, Falcini, M, Masini, M, Ancona, Al, Bartolini, S, Annunziata, P, Pucci, B, Iudice, Alfonso, Pasquali, Livia, Malentacchi, Gm, Malentacchi, M, Plewnia, K, Della Pina, D, Mazzoni, M, Vista, M, Ulivelli, M, Bartalini, S, De Stefano, N, Stromillo, Ml, Sabatini, S, Spera, C, Mortilla, M, Fonda, C, and Bugarini, G.

Published
2010

29. Short-term combination of glatiramer acetate with i.v. steroid treatment preceding treatment with GA alone assessed by MRI-disease activity in patients with relapsing-remitting multiple sclerosis

Author

De Stefano, N, Filippi, M, Hawkins, C, Rózsa, C, Kanta, E, Lehel, G, Zsigmond, I, Kocher, I, Gedeonné, J, Pozsar, K, Fornádi, L, Barsi, P, Szirmai, I, Gyorgyne, K, Simo, M, Dobos, E, Katona Kollerne, I, Harcos, P, Bajzik, G, Deme, I, Kopa, J, Gyozone, K, Bogner, P, Tokai, R, Gyorbiro, Z, Toth, E, Szatmari, F, Kiraly, H, Fejes, K, Bartos, L, Imre, P, Kovacs, Z, Guseo, A, Jofeju, E, Fritz, M, Persico, A, Romani, A, Pichiecchio, A, Uggetti, C, DagradiLaura Greppi, D, Tosetti, L, D'Amario, M, Bergamaschi, R, Bastianello, S, Cosi, V, Cordioli, C, Mardighian, D, Colleoni, Ml, Niccolai, M, Frigerio, M, Gasparotti, R, Capra, R, Pardatscher, S, Cipolletta, A, Gasperini, C, Casavecchia, E, Cantillo, E, Luccichenti, G, Fele, Mr, Galgani, S, Cartechini, E, Pucci, E, Conti, G, Giuliani, G, Pompili, Gs, Provinciali, L, Regnicolo, L, Imperiale, L, Cola, M, Danni, M, Herber, N, Arabi, S, Tarabelli, T, Salvolini, U, Andreotti, A, Guidi, L, Stromillo, Ml, Bartolozzi, Ml, Mortilla, M, Brogi, S, Murariu, A, Gogu, A, Bejenaru, D, Onet, D, Birsasteanu, F, Stoita, F, Dragota, I, Simu, M, Pavel, A, Dumitru, C, Tiu, C, Repede, F, Iana, G, Ionescu, H, Ungureanu, M, Bajenaru, O, Petrescu, S, Treaba, A, Iakob, C, Pascu, I, Szasz, J, Buruian, M, Petruta Oroian, M, Balasa, R, Constantin, V, Balint, C, Popescu, C, Pop, C, Popescu, D, Preda, D, Stanca, D, Marginean, I, Perju Dumbrava, L, Rusu, M, Rus, M, Sfringeu, S, Fischer, T, Vacaras, V, Lockett Jones, D, Mamutse, G, Stone, M, Morris, R, Williams, R, Hurlstone, S, Mihalova, T, Kidd, D, Hobro, D, Gavan, D, Moody, H, Tidswell, P, Townson, R, Sharrack, B, Taylor, C, Bowen, J, Craven, P, Malcolm, P, Gaughan, S, Houston, G, O'Riordan, J, Shah, Ps, Wilson, S, Carson, S, Brunton, T, Milne, W, Marino, Silvia, Giorgio, A, Balistreri, A, Battaglini, M, and Filippi, M.

Published
2008

37. Linkage Analysis in familial Alzheimer Disease

Author

Sorbi, S, Mortilla, M, Nacmias, B, Piacentini, S, Amaducci, L, St George Hyslop PH, Marcon, G, Bruni, Ac, Sorbi, S, Mortilla, M, Nacmias, B, Piacentini, S, Amaducci, L, St George Hyslop, Ph, Marcon, G, and Bruni, Ac

Published
1990

38. Proton MR spectroscopy to assess axonal damage in multiple sclerosis and other white matter disorders

Author

De Stefano N, Narayanan S, Pm, Matthews, Mortilla M, Mt, Dotti, antonio federico, and Dl, Arnold

Subjects
leukodystrophy, Brain Diseases, N-acetylaspartate, Magnetic Resonance Spectroscopy, Multiple Sclerosis, N-acetylaspartate, white matter, multiple sclerosis, leukodystrophy, magnetic resonance spectroscopy, Humans, Protons, white matter, Axons
Abstract

Proton MR spectroscopy allows in vivo measurement of N-acetylaspartate in white matter, providing a biochemical index of axonal integrity. Several recent studies of patients with multiple sclerosis and other white matter disorders have shown both transient and sustained decreases in N-acetylaspartate in white matter lesions and in brain regions appearing normal on conventional MRI. These data have emphasised that a substantial amount of axonal damage or loss (presumably secondary to myelin pathology) is consistently present in most of these disorders. Recent post-mortem studies support these results. In contrast to changes seen with conventional MR imaging, decreases in N-acetylaspartate have shown a close correlation with changes in neurological status. This suggests that axonal damage may be more relevant than demyelination for determining chronic functional impairments in primary white matter diseases. Thus, serial measurement of brain N-acetylaspartate with proton MR spectroscopy can provide a reliable and clinically-relevant monitor of disease evolution. As pathological changes responsible for long-term morbidity are logically important targets for therapeutic agents, early treatment directed at axonal protection should be useful in these disorders.

Published
2000

40. Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity

Author

Andreucci, E, Bianchi, B, Carboni, I, Lavoratti, G, Mortilla, M, Fonda, C, Bigozzi, M, Genuardi, Maurizio, Giglio, S, Pela, I., Genuardi, Maurizio (ORCID:0000-0002-7410-8351), Andreucci, E, Bianchi, B, Carboni, I, Lavoratti, G, Mortilla, M, Fonda, C, Bigozzi, M, Genuardi, Maurizio, Giglio, S, Pela, I., and Genuardi, Maurizio (ORCID:0000-0002-7410-8351)

Abstract

A significant number of patients affected by autosomal recessive primary distal renal tubular acidosis (dRTA) manifest sensorineural hearing loss (SNHL). Mutations in ATP6V1B1 are associated with early onset SNHL, whereas ATP6V0A4 mutations have been described in dRTA and late-onset SNHL. Enlarged vestibular aqueduct (EVA) was described in patients with recessive dRTA and SNHL, and recently, this abnormality has been associated with mutations in the ATP6V1B1 gene. In our study, we evaluated the presence of inner-ear abnormalities in four patients affected by dRTA and SNHL, characterized by molecular analysis. Two patients affected by severe dRTA with early onset SNHL showed the same mutation in the ATP6V1B1 gene and bilateral EVA with a different degree of severity. The other two presented similar clinical manifestations of dRTA and different mutations in the ATP6V0A4 gene: one patient, showing EVA, developed an early SNHL, whereas in the other one, the SNHL appeared in the second decade of life and the vestibular aqueduct was normal. Our study confirms the association of EVA and mutations in the ATP6V1B1 gene and demonstrates that mutations in the ATP6V0A4 gene can also be associated with EVA probably only when the SNHL has an early onset. The pathophysiology of SNHL and EVA are still to be defined.

Published
2009

44. Linkage of a novel FAD locus to chromosome-14q

Author

Stgeorgehyslop, Ph, Rogaev, E, Alexandrova, N, Lukiw, W, Liang, Y, Mclachlan, Drc, Vaula, G, Rainero, Innocenzo, Pinessi, Lorenzo, Bergamini, Lodovico, Mortilla, M, Sorbi, S, Amaducci, L, Polinsky, R, Foncin, Jf, Bruni, A, Montesi, M, Pericakvance, M, Roses, Ad, and Haines, J.

Subjects
Linkage, FAD
Published
1993

46. Assessment of amyloid b-protein precursor gene mutations in a large set of familiar and sporadic Alzheimer's disease cases

Author

Tanzi, R. E., Vaula, G., Romano, D. M., Mortilla, M., Huang, T. L., Tupler, Rossella, Wasco, W., Hyman, B. T., Haines, J. L., Jenkins, B. J., Kalaitsidaki, M., Warren, A. C., Mcinnis, M. C., Antonarakis, S. E., Karlinsky, H., Percy, M. E., Connor, L., Growdon, J., Crapper McIachlan, D. R., Gusella, J. F., and St George Hyslop, P. H.

Subjects
Male, Recombination, Genetic, Base Sequence, beta Amyloid Protein Precursor gene, polymorphism, familial Alzheimer's disease, DNA Mutational Analysis, Molecular Sequence Data, Valine, DNA, Original Articles, Middle Aged, Polymerase Chain Reaction, Pedigree, Amyloid beta-Protein Precursor, Alzheimer Disease, mental disorders, Mutation, Humans, heterocyclic compounds, Isoleucine
Abstract

A genetic locus associated with familial Alzheimer disease (FAD) and a candidate gene, APP, encoding the amyloid protein precursor have both been assigned previously to chromosome 21, and, in a few FAD families, mutations of APP have been detected. However, obligate crossovers between APP and FAD have also been reported in several FAD pedigrees, including FAD4, a large kindred showing highly suggestive evidence for linkage of the disorder to chromosome 21. In case the apparent APP crossover in FAD4 actually represented an intragenic recombination event or segregation of different mutations in different family branches, we have performed a more detailed assessment of APP as a candidate gene in this family. The entire coding region of the APP gene was sequenced for FAD4 and for FAD1, a second large kindred. No mutations were found, indicating that, in at least one chromosome 21-linked FAD pedigree, the gene defect is not accounted for by a mutation in the known coding region of the APP gene. A total of 25 well-characterized early- and late-onset FAD pedigrees were typed for genetic linkage to APP, to assess the percentage of FAD families predicted to carry mutations in the APP gene. None of the FAD families yielded positive lod scores at a recombination fraction of 0.0. To estimate the overall prevalence of FAD-associated mutations in the beta A4 domain of APP, we sequenced exons 16 and 17 in 30 (20 early- and 10 late-onset) FAD kindreds and in 11 sporadic AD cases, and we screened 56 FAD kindreds and 81 cases of sporadic AD for the presence of the originally reported FAD-associated mutation, APP717 Val----Ile (by BclI digestion). No APP gene mutations were found in any of the FAD families or sporadic-AD samples examined in this study, suggesting that the mutations in exons 16 and 17 are a rare cause of FAD. Overall, these data suggest that APP gene mutations account for a very small portion of FAD.

Published
1992

47. Molecular genetic evidence for etiologic heterogeneity of Alzheimer's Disease

Author

St George Hyslop PH, Crapper McClachlan, D, Haines, Jl, Bruni, Ac, Francois, Foncin J., Lukiw, Wj, Montesi, Mp, Mortilla, M, Pinessi, Lorenzo, Polinsky, R, Pollen, D, Rainero, Innocenzo, Rogaev, E, Sorbi, S, Tanzi, Re, Tupler, R, and Vaula, G.

Subjects
Alzheimer's Disease, genetics
Published
1992

50. Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder

Author

St George Hyslop, P. H., Haines, J. L., Farrer, L. A., Polinsky, R., Van Broeckhoven, C., Goate, A., Crapper McLachlan, D. R., Orr, H., Bruni, A. C., Sorbi††, S., Rainero, I., Foncin, J. F., Pollen, D., Cantu, J. M., Tupler, Rossella, Voskresenskaya, N., Mayeux, R., Growdon, J., Fried, V. A., Myers, R. H., Nee, L., Backhovens, H., Martin, J. J., Rossor, M., Owen, M. J., Mullan, M., Percy, M. E., Karlinsky, H., Rich, S., Heston, L., Montesi, M., Mortilla, M., Nacmias, N., Gusella, J. F., and Hardy, J. A.

Subjects
linkage analysis, familial Alzheimer's disease, genetic heterogeneity
Published
1990

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