Search Results - "Madia, F"

Natural history of young-adult amyotrophic lateral sclerosis by SABATELLI, M, MADIA, F, CONTE, A, LUIGETTI, M, ZOLLINO, M, MANCUSO, I, MONACO, M. Lo, LIPPI, G, TONALI, P

“…Amyotrophic lateral sclerosis (ALS) affects people of all ages, but whether the wide range of age at onset is due to distinct diseases or merely reflects…”
Get full text

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability by Ceroni, J. R. M., Dutra, R. L., Honjo, R. S., Llerena, J. C., Acosta, A. X., Medeiros, P. F. V., Galera, M. F., Zanardo, É. A., Piazzon, F. B., Dias, A. T., Novo-Filho, G. M., Montenegro, M. M., Madia, F. A. R., Bertola, D. R., de Melo, J. B., Kulikowski, L. D., Kim, C. A.

“…Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number…”
Get full text

SARS-CoV-2 was already circulating in Italy, in early December 2019 by Gragnani, L, Monti, M, Santini, S A, Marri, S, Madia, F, Lorini, S, Petraccia, L, Stasi, C, Basile, U, Luti, V, Pagliai, F, Saccardi, R, Zignego, A L

“…Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) identified in China, in December 2019 determines COronaVIrus Disease 19 (COVID-19). Whether or not…”
Get more information

S-02-05 Integration of data across toxicity endpoints for improved safety assessment of chemicals: key characteristics and other approaches to cancer hazard evaluation by Madia, F.

Get full text

Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations by Villa, R., Fergnani, V.G.C., Silipigni, R., Guerneri, S., Cinnante, C., Guala, A., Danesino, C., Scola, E., Conte, G., Fumagalli, M., Gangi, S., Colombo, L., Picciolini, O., Ajmone, P.F., Accogli, A., Madia, F., Tassano, E., Scala, M., Capra, V., Srour, M., Spaccini, L., Righini, A., Greco, D., Castiglia, L., Romano, C., Bedeschi, M.F.

“…Cri-du-Chat Syndrome (CdCS) is a genetic condition due to deletions showing different breakpoints encompassing a critical region on the short arm of chromosome…”
Get full text

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy by NABBOUT, R, GENNARO, E, FONTANA, E, GAGGERO, R, GRANATA, T, GUERRINI, R, LOI, M, LA SELVA, L, LISPI, M. L, MATRICARDI, A, ROMEO, A, TZOLAS, V, DALLA BERNARDINA, B, VALSERIATI, D, VEGGIOTTI, P, VIGEVANO, F, VALLEE, L, DAGNA BRICARELLI, F, BIANCHI, A, ZARA, F, DULAC, O, MADIA, F, BERTINI, E, CAPOVILLA, G, CHIRON, C, CRISTOFORI, G, ELIA, M

“…SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93…”
Get full text

Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy by MADIA, F, STRIANO, P, MINETTI, C, ZARA, F, GENNARO, E, MALACARNE, M, PARAVIDINO, R, BIANCHERI, R, BUDETTA, M, CILIO, M. R, GAGGERO, R, PIERLUIGI, M

“…To identify cryptic chromosomal deletions involving SCN1A in patients with severe myoclonic epilepsy of infancy (SMEI). Thirty-nine patients with SMEI and…”
Get full text

Clinical and pathological heterogeneity in a series of 31 patients with IgM-related neuropathy by Luigetti, M, Conte, A, Montano, N, Del Grande, A, Madia, F, Lo Monaco, M, Laurenti, L, Sabatelli, M

“…Abstract Background IgM-related neuropathy generally presents as a late-onset demyelinating polyneuropathy with predominant sensory loss and ataxia. Sporadic…”
Get full text

A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype by Luigetti, M, Fabrizi, G.M, Madia, F, Ferrarini, M, Conte, A, Del Grande, A, Tasca, G, Tonali, P.A, Sabatelli, M

“…Abstract Mutations in the gene encoding 27-kDa small heat-shock protein B1 ( HSPB1 ) have been reported in association with Charcot-Marie-Tooth disease type 2F…”
Get full text

PO-097 Integration of data across toxicity endpoints to explore new ways for carcinogenicity safety assessment of chemicals by Madia, F, Worth, A, Prieto-Peraita, P, Whelan, M, Corvi, R

“…IntroductionExperimental methods for predicting the carcinogenicity of environmental chemicals have not been substantially updated in the last two decades…”
Get full text

Light chain deposition in peripheral nerve as a cause of mononeuritis multiplex in Waldenström's macroglobulinaemia by Luigetti, M, Frisullo, G, Laurenti, L, Conte, A, Madia, F, Profice, P, Batocchi, A.P, Montano, N, Tarnani, M, Tonali, P.A, Sabatelli, M

“…Abstract Waldenström's macroglobulinaemia is a form of monoclonal IgM gammopathy associated with a rare B-cell lympho-plasmacytic lymphoma, characterized by…”
Get full text

D11Y SOD1 mutation and benign ALS: A consistent genotype-phenotype correlation by Del Grande, A, Conte, A, Lattante, S, Luigetti, M, Marangi, G, Zollino, M, Madia, F, Bisogni, G, Sabatelli, M

“…Abstract We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a…”
Get full text

A simple model system for age-dependent DNA damage and cancer by Madia, F., Gattazzo, C., Fabrizio, P., Longo, V.D.

“…Aging is the major risk factor for many human cancers. However, the mechanisms responsible for the effect of aging on tumor incidence are poorly understood, in…”
Get full text

SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs by Luigetti, M., Fabrizi, G.M., Madia, F., Ferrarini, M., Conte, A., Delgrande, A., Tonali, P.A., Sabatelli, M.

“…Heterozygous mutations in the Berardinelli–Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver…”
Get full text

Pure motor chronic inflammatory demyelinating polyneuropathy by SABATELLI, Mario, MADIA, F, MIGNOGNA, T, LIPPI, G, QUARANTA, L, TONALI, P

“…We describe four patients affected by chronic inflammatory demyelinating polyneuropathy (CIDP) in a pure motor form. Selective involvement of motor fibers was…”
Get full text

Chronic autoimmune autonomic neuropathy responsive to immunosuppressive therapy by MODONI, A, MIRABELLA, M, MADIA, F, SANNA, T, LANZA, G, TONALI, P. A, SILVESTRI, G

Get full text

P93 – 2953: Identification of a new mutation of the SCL1A gene in a patient with GLUT1-DS by Foiadelli, T, Spartà, M.V, Zavras, N, Passera, C, Gagliardone, C, Rinaldi, B, Valaperta, S, Madia, F, Veggiotti, P, Striano, P, Savasta, S

“…Objective Diagnostic assessment of a boy of 13 years old. From the age of 16 months, he has showed an isolated oculomotor disorder associated with a delay in…”
Get full text

Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency by Luigetti, M, Pizzuti, A, Bartoletti, S, Houlden, H, Pirro, C, Bottillo, I, Madia, F, Conte, A, Tonali, P.A, Sabatelli, M

“…Abstract Allgrove syndrome (or triple A syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal…”
Get full text

Neurologic improvement after peripheral blood stem cell transplantation in poems by Sabatelli, M, Luigetti, M, Laurenti, L, Conte, A, Madia, F, De Matteis, S, Chiusolo, P, Tarnani, M, Sica, S

Get full text

RESTLESS LEGS SYNDROME WITH PERIODIC LIMB MOVEMENTS: A POSSIBLE CAUSE OF IDIOPATHIC HYPERCKEMIA by MARCA, G. Della, DITTONI, S, CATTERUCCIA, M, FRUSCIANTE, R, MADIA, F, LOSURDO, A, TESTANI, E, VOLLONO, C, SERVIDEI, S

Get full text