Search Results - "Cruz, Vítor T"

Mutations of the GLA Gene in Young Patients With Stroke The PORTYSTROKE Study—Screening Genetic Conditions in PORTuguese Young STROKE Patients by VIANA BAPTISTA, Miguel, FERREIRA, Susana, PINTO, Ana A. N, LEITAO, André, GABRIEL, Joao Paulo, CALADO, Sofia, OLIVEIRA, Joao Paulo, FERRO, José M, PINHO-E-MELO, Teresa, CARVALHO, Marta, CRUZ, Vitor T, CARMONA, Cátia, SILVA, Fernando A, TUNA, Assunção, RODRIGUES, Miguel, FERREIRA, Carla

“…Fabry disease is an X-linked monogenic disorder caused by mutations in the GLA gene. Recent data suggest that stroke in young adults may be associated with…”
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Mutations in SPG11 , encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum by Stevanin, Giovanni, Bertini, Enrico, Elleuch, Nizar, Tazir, Meriem, Azzedine, Hamid, Filla, Alessandro, Ruberg, Merle, Lossos, Alexander, Cruz, Vítor T, Grid, Djamel, Tessa, Alessandra, Coutinho, Paula, Loureiro, José L, Santorelli, Filippo M, Denora, Paola S, Durr, Alexandra, Confavreux, Christian, Charles, Perrine, Brice, Alexis, Fontaine, Bertrand, Martin, Elodie, Leguern, Eric, Chomilier, Jacques, Ouvrard-Hernandez, Anne-Marie, Bouslam, Naïma

“…Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic…”
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Central effects of fingolimod by Cruz, Vítor T, Fonseca, Joaquim

“…Fingolimod, a sphingosine-1-phosphate receptor modulator, was the first oral therapy approved for relapsing-remitting multiple sclerosis, and shows a novel…”
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The Potential of Motion Quantification Systems in the Automatic Evaluation of Motor Function after Stroke by Bento, Virgílio F., Cruz, Vítor T., Ribeiro, David D., Branco, Catarina, Coutinho, Paula

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Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia by Boukhris, Amir, Schule, Rebecca, Loureiro, José L., Lourenço, Charles Marques, Mundwiller, Emeline, Gonzalez, Michael A., Charles, Perrine, Gauthier, Julie, Rekik, Imen, Acosta Lebrigio, Rafael F., Gaussen, Marion, Speziani, Fiorella, Ferbert, Andreas, Feki, Imed, Caballero-Oteyza, Andrés, Dionne-Laporte, Alexandre, Amri, Mohamed, Noreau, Anne, Forlani, Sylvie, Cruz, Vitor T., Mochel, Fanny, Coutinho, Paula, Dion, Patrick, Mhiri, Chokri, Schols, Ludger, Pouget, Jean, Darios, Frédéric, Rouleau, Guy A., Marques, Wilson, Brice, Alexis, Durr, Alexandra, Zuchner, Stephan, Stevanin, Giovanni

“…Hereditary spastic paraplegias (HSPs) form a heterogeneous group of neurological disorders. A whole-genome linkage mapping effort was made with three…”
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A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia by Seixas, Ana I., Loureiro, Joana R., Costa, Cristina, Ordóñez-Ugalde, Andrés, Marcelino, Hugo, Oliveira, Cláudia L., Loureiro, José L., Dhingra, Ashutosh, Brandão, Eva, Cruz, Vitor T., Timóteo, Angela, Quintáns, Beatriz, Rouleau, Guy A., Rizzu, Patrizia, Carracedo, Ángel, Bessa, José, Heutink, Peter, Sequeiros, Jorge, Sobrido, Maria J., Coutinho, Paula, Silveira, Isabel

“…Advances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene…”
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Citicoline in the treatment of acute ischaemic stroke: an international, randomised, multicentre, placebo-controlled study (ICTUS trial) by Dávalos, Antoni, Dr, Alvarez-Sabín, José, PhD, Castillo, José, Prof, Díez-Tejedor, Exuperio, Prof, Ferro, Jose, Prof, Martínez-Vila, Eduardo, PhD, Serena, Joaquín, PhD, Segura, Tomás, PhD, Cruz, Vitor T, PhD, Masjuan, Jaime, PhD, Cobo, Erik, PhD, Secades, Julio J, PhD

“…Summary Background Citicoline is approved in some countries for the treatment of acute ischaemic stroke. The drug has shown some evidence of efficacy in a…”
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Prevalence and pattern of cognitive impairment in rural and urban populations from Northern Portugal by Nunes, Belina, Silva, Ricardo D, Cruz, Vitor T, Roriz, Jose M, Pais, Joana, Silva, Maria C

“…Despite worldwide recognition of the burden of dementia, no epidemiological data is yet available in Portugal. The objective of this study is to estimate the…”
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The SWORD tele-rehabilitation system by Bento, Virgílio F, Cruz, Vítor T, Ribeiro, David D, Colunas, Márcio M, Cunha, João P S

“…In spite of the growing interest verified in the field of technology-based interventions for Stroke rehabilitation, there is still no global solution that is…”
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Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study by Coutinho, Paula, Ruano, Luis, Loureiro, José L, Cruz, Vitor T, Barros, José, Tuna, Assunção, Barbot, Clara, Guimarães, João, Alonso, Isabel, Silveira, Isabel, Sequeiros, Jorge, Marques Neves, José, Serrano, Pedro, Silva, M Carolina

“…Epidemiological data on hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP) are scarce. To present the prevalence and distribution of…”
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Systematic review and meta‐analysis on the association between chronic low back pain and cognitive function by Pereira Nery, Ellen C. H., Rocha, Nelson P., Cruz, Vitor T., Silva, Anabela G.

“…This study aimed to identify and assess the evidence on the association between idiopathic chronic low back pain (LBP) and cognitive function in individuals…”
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Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia by Coutinho, Paula, Cruz, Vítor T, Tuna, Assunção, Silva, Sérgio E, Guimarães, João

“…Although mentioned in most series, "pure" autosomal dominant cerebellar ataxias, except spinocerebellar ataxia type 6, are difficult to differentiate on…”
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Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration by Stevanin, Giovanni, Azzedine, Hamid, Denora, Paola, Boukhris, Amir, Tazir, Meriem, Lossos, Alexander, Rosa, Alberto Luis, Lerer, Israela, Hamri, Abdelmadjid, Alegria, Paulo, Loureiro, José, Tada, Masayoshi, Hannequin, Didier, Anheim, Mathieu, Goizet, Cyril, Gonzalez-Martinez, Victoria, Le Ber, Isabelle, Forlani, Sylvie, Iwabuchi, Kiyoshi, Meiner, Vardiela, Uyanik, Goekhan, Erichsen, Anne Kjersti, Feki, Imed, Pasquier, Florence, Belarbi, Soreya, Cruz, Vitor T., Depienne, Christel, Truchetto, Jeremy, Garrigues, Guillaume, Tallaksen, Chantal, Tranchant, Christine, Nishizawa, Masatoyo, Vale, José, Coutinho, Paula, Santorelli, Filippo M., Mhiri, Chokri, Brice, Alexis, Durr, Alexandra

“…Hereditary spastic paraplegias (HSP) are neurodegenerative diseases mainly characterized by lower limb spasticity associated, in complicated forms, with…”
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Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey by Loureiro, José Leal, Brandão, Eva, Ruano, Luis, Brandão, Ana F, Lopes, Ana M, Thieleke-Matos, Carolina, Miller-Fleming, Leonor, Cruz, Vitor T, Barbosa, Mafalda, Silveira, Isabel, Stevanin, Giovanni, Pinto-Basto, Jorge, Sequeiros, Jorge, Alonso, Isabel, Coutinho, Paula

“…Hereditary spastic paraplegias (HSPs) are a group of diseases caused by corticospinal tract degeneration. Mutations in 3 genes (SPG4, SPG3, and SPG31) are said…”
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Spastic paraplegia with thin corpus callosum : description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity by STEVANIN, Giovanni, MONTAGNA, Giorgia, BELARBI, Soraya, ORLACCHIO, Antonio, JONVEAUX, Philippe, SILVESTRI, Gabriella, OUVRAD HERNANDEZ, Anne Marie, DE MICHELE, Giuseppe, TAZIR, Meriem, MARIOTTI, Caterina, BROCKMANN, Knut, MALANDRINI, Alessandro, AZZEDINE, Hamid, VAN DER KNAPP, Marjo S, NERI, Marcella, TONEKABONI, Hassan, MELONE, Mariarosa A. B, TESSA, Alessandra, TERESA DOTTI, M, TOSETTI, Michela, PAURI, Flavia, FEDERICO, Antonio, CASALI, Carlo, VALENTE, Enza Maria, CRUZ, Vitor T, LOUREIRO, José L, ZARA, Federico, FORLANI, Sylvie, BERTINI, Enrico, COUTINHO, Paula, FILLA, Alessandro, BRICE, Alexis, SANTORELLI, Filippo M, DURR, Alexandra, SCARANO, Valentina, BOUSLAM, Naima, CASSANDRINI, Denise, DENORA, Paola S, CRISCUOLO, Chiara

“…We studied 20 Mediterranean families (40 patients) with autosomal recessive hereditary spastic paraplegia and thin corpus callosum (ARHSP-TCC, MIM 604360) to…”
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Towards a movement quantification system capable of automatic evaluation of upper limb motor function after neurological injury by Bento, V. F., Cruz, V. T., Ribeiro, D. D., Cunha, J. P. S.

“…The paper proposes an integrated system to automatically assess motor function after neurological injury. A portable motion capture system was developed in…”
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Mutations in SPGII are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration by STEVANIN, Giovanni, AZZEDINE, Hamid, LOUREIRO, José, TADA, Masayoshi, HANNEQUIN, Didier, ANHEIM, Mathieu, GOIZET, Cyril, GONZALEZ-MARTINEZ, Victoria, LE BER, Isabelle, FORLANI, Sylvie, IWABUCHI, Kiyoshi, MEINER, Vardiela, DENORA, Paola, UYANIK, Goekhan, KJERSTI ERICHSEN, Anne, FEKI, Imed, PASQUIER, Florence, BELARBI, Soreya, CRUZ, Vitor T, DEPIENNE, Christel, TRUCHETTO, Jeremy, GARRIGUES, Guillaume, TALLAKSEN, Chantal, BOUKHRIS, Amir, TRANCHANT, Christine, NISHIZAWA, Masatoyo, VALE, José, COUTINHO, Paula, SANTORELLI, Filippo M, MHIRI, Chokri, BRICE, Alexis, DURR, Alexandra, TAZIR, Meriem, LOSSOS, Alexander, ROSA, Alberto Luis, LERER, Israela, HAMRI, Abdelmadjid, ALEGRIA, Paulo

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