Zobrazeno 1 - 10
of 200
pro vyhledávání: '"Marina, Svetel"'
Autor:
Poornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, Thomas Courtin, Christelle Tesson, Fanny Casse, Melanie Ferrien, Louise-Laure Mariani, Stephanie Carvalho, Francois-Xavier Lejeune, Sana Rebbah, Gaspard Martet, Marion Houot, Aymeric Lanore, Graziella Mangone, Emmanuel Roze, Marie Vidailhet, Jan Aasly, Ziv Gan Or, Eric Yu, Yves Dauvilliers, Alexander Zimprich, Volker Tomantschger, Walter Pirker, Ignacio Álvarez, Pau Pastor, Alessio Di Fonzo, Kailash P. Bhatia, Francesca Magrinelli, Henry Houlden, Raquel Real, Andrea Quattrone, Patricia Limousin, Prasad Korlipara, Thomas Foltynie, Donald Grosset, Nigel Williams, Derek Narendra, Hsin-Pin Lin, Carna Jovanovic, Marina Svetel, Timothy Lynch, Amy Gallagher, Wim Vandenberghe, Thomas Gasser, Kathrin Brockmann, Huw R. Morris, Max Borsche, Christine Klein, Olga Corti, Alexis Brice, Suzanne Lesage, Jean Christophe Corvol, French Parkinson disease Genetics Study Group (PDG)
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-12 (2024)
Abstract Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson’s disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and i
Externí odkaz:
https://doaj.org/article/70e73e8ef588464cb23a2e9bc5b7be18
Autor:
Anja Kovanda, Valentino Rački, Gaber Bergant, Dejan Georgiev, Dušan Flisar, Eliša Papić, Marija Brankovic, Milena Jankovic, Marina Svetel, Nataša Teran, Aleš Maver, Vladimir S. Kostic, Ivana Novakovic, Zvezdan Pirtošek, Martin Rakuša, Vladimira Vuletić, Borut Peterlin
Publikováno v:
npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-4 (2022)
Abstract Parkinson’s disease (PD) guidelines lack clear criteria for genetic evaluation. We assessed the yield and rationale of genetic testing for PD in a routine clinical setting on a multicenter cohort of 149 early-onset and familial patients by
Externí odkaz:
https://doaj.org/article/8212afa2f27e4934942d7333f97b9926
Autor:
Vladana Marković, Iva Stanković, Saša Radovanović, Igor Petrović, Milica Ječmenica Lukić, Nataša Dragašević Mišković, Marina Svetel, Vladimir Kostić
Publikováno v:
PLoS ONE, Vol 17, Iss 7, p e0269886 (2022)
BackgroundProgressive gait impairment in Parkinson's disease (PD) leads to significant disability. Quantitative gait parameters analysis provides valuable information about fine gait alterations.ObjectivesTo analyse change of gait parameters in patie
Externí odkaz:
https://doaj.org/article/b26c38bd36c44389b21a37ae0d5ce50f
Autor:
Stojan Perić, Vladana Marković, Ayşe Candayan, Els De Vriendt, Nikola Momčilović, Andrija Savić, Nataša Dragašević-Mišković, Marina Svetel, Zorica Stević, Ivo Božović, Šarlota Mesaroš, Jelena Drulović, Ivana Basta, Igor Petrović, Olivera Tamaš, Milija Mijajlović, Ivana Novaković, Dragoslav Sokić, Albena Jordanova
Publikováno v:
Cells, Vol 11, Iss 18, p 2804 (2022)
Hereditary spastic paraplegia (HSP) is among the most genetically diverse of all monogenic diseases. The aim was to analyze the genetic causes of HSP among adult Serbian patients. The study comprised 74 patients from 65 families clinically diagnosed
Externí odkaz:
https://doaj.org/article/999b46ab93f2481990775ec31831cf32
Autor:
Aleksandra Tomić, Milica Ječmenica Lukić, Igor Petrović, Marina Svetel, Nataša Dragašević Mišković, Nikola Kresojević, Vladana Marković, Vladimir S. Kostić
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Introduction: Functional movement disorders (FMD) refer to a group of movement disorders that present with clinical characteristics incongruent to those due to established pathophysiologic processes, as for example in the case of neurodegeneration or
Externí odkaz:
https://doaj.org/article/f5b42402e1444681adf33d8e8367eec5
Autor:
Iva Stanković, Čarna Jovanović, Jelena Vitković, Marina Svetel, Tatjana Pekmezović, Aleksandra Tomić, Nikola Kresojević, Vladana Marković, Milica Ječmenica Lukić, Igor Petrović, Nataša Dragašević-Mišković, Vladimir Kostić
Publikováno v:
Journal of Neurology.
Autor:
Alessandro Aina, Marco Barbero, Barbara Cagnie, Elena Castelli, Chad Cook, Silvano Ferrari, Andrea Foglia, Paolo Bizzarri, Donatella Giraudo, Chris Littlewood, Paolo Pillastrini, Daniele Piscitelli, Michele Romano, Andrea Tettamanti, Carla Vanti, Stefano Vercelli, Lennard Voogt, Aceto Maria, Spina Emanuele, Paone Paolo, Silvestre Francesco, Carotenuto Antonio, Cerillo Ilaria, Orefice Giuseppe, Bassi Raffaele, Fiorito Serena, Aina Alessandro, M. Bonfanti, M. Pasquetti, Bortolami Arianna, Pillastrini Paolo, Vanti Carla, D. Brioschi, M. Vitali, A. Pedretti, G. Fraschini, A. Tettamanti, G. Castellini, S. Gianola, S. Bonovas, G. Banfi, L. Moja, Greta Castellini, Silvia Gianola, Pamela Frigerio, Michela Agostini, Rosa Bolotta, Davide Corbetta, Monica Gasparini, Paolo Gozzer, Erica Guariento, Linda Li, Valentina Pecoraro, Valeria Sirtori, Andrea Turolla, A. Andreano, Lorenzo Moja, G Castellini, S Gianola, S Bonovas, L Moja, Alessandro Chiarotto, Caroline B. Terwee, Maarten Boers, Raymond W. Ostelo, Lara J. Maxwell, George A. Wells, Peter Tugwell, Ron Clijsen, Cesar Fernandez-de-las-Penas, Ciceri Matteo, Rossetti Sara, Vercelli Stefano, M. Cislaghi, G. Penone, G. Marinelli, G. Rezzan, G. Melegati, R. Gatti, Colombo Claudio, Tolosa Francesca, Andrea Moriondo, Stefano Doronzio, Matteo Paci, Marco Monticone, Garzonio Fabiola, Zanetta Anna, Bargeri Serena, Cerone Giorgia, Sartorio Francesco, Filippo Ghirlanda, Alessandro Schneebeli, Corrado Cescon, G. Gioia, S. Faccendini, A. Aina, G. Granzotto, L. Coppola, I. Gava, M. Frassinelli, F. Gattinoni, Lorenzo Guidotti, Marco Postiglione, Bruna Lombardi, Diego Leoni, Davide Storer, Roberto Gatti, Michele Egloff, Magno Tiziano, Tettamanti Andrea, Daniele Maremmani, Sebastiano Cencini, Giuseppe Plebani, Federica Moresi, Matteo Isnardi, Alberto Gallace, N. Moretti, Maselli, M. Testa, Stefano Negrini, Sabrina Donzelli, Francesco Saveri, Alessandra Negrini, Silvana Parzini, Fabio Zaina, Leonardo Nesi, Francesco Ferrarello, Valeria Anna Maria Bianchi, Luca Nannetti, Giuditta Mini, Mariangela Marchettini, Fabio Piccolo, Federica Agosta, Elisabetta Sarasso, Paola Adamo, Federico Temporiti, Andrea Falini, Massimo Filippi, Roberto Meroni, Leonardo Pellicciari, Marco A. Mondelli, Thomas Favaron, Cesare G. Cerri, Enrico A. Tallarita, Ravizzotti Elisa, Aleksandra Tomić, Silvia Basaia, Nataša Dragašević, Marina Svetel, Massimiliano Copetti, Vladimir S. Kostic, Matteo Mastrantonio, Negrini Stefano, Valentina Redaelli, Emiliano Soldini, M. Segat, O. Casonato, M. Margelli, S. Pillon, V. Spunton, R. Fenini, R. Garofalo, M. Conti, G. Valagussa, V. Balatti, L. Trentin, S. Melli, M. Norsi, E. Grossi, Massimiliano Vanossi, Sara Taioli, Ivan Gardenghi, Lucia Bertozzi, Anna Rosso, Antonio Romeo, Martina Ruggeri, Bellini Filippo, Cristina Conti, Federica Faresin, Raffaella Piccarreta, Villanova Luca, Violini Claudia, Cenci Marco Joseph, Delconte Carmen, Pisano Fabrizio, S. Youssef, M. Montesano, M. Picardi, P. De Giampaulis, M. Corbo, L. Pisani, Ruella Carolina
Publikováno v:
Archives of Physiotherapy, Vol 6, Iss S1, Pp 1-42 (2016)
Table of contents S1 Criteria for exercises selection in subjects with low back pain Alessandro Aina S2 Recent advances in pathophysiology and treatment of myofascial trigger points Marco Barbero S3 Rehabilitation of scapular dyskinesia Barbara Cagni
Externí odkaz:
https://doaj.org/article/2f4a3232f77e4186a9c698c007b90ae8
Autor:
Nikola Kresojević, Valerija Dobričić, Milica Ječmenica Lukić, Aleksandra Tomić, Igor Petrović, Nataša Dragašević, Ivana Perović, Ana Marjanović, Marija Branković, Milena Janković, Ivana Novaković, Marina Svetel, Vladimir S. Kostić
Publikováno v:
Journal of Neurology. 269:3167-3174
Niemann Pick type C is an autosomal recessive lysosomal storage disorder caused by mutations in NPC1 and NPC2 genes. It is a neuro-visceral disease with a heterogeneous phenotype. Clinical features depend on the age at onset. Visceral manifestations
Autor:
Ana Marjanovic, Valerija Dobricic, Milica Jecmenica-Lukic, Iva Stankovic, Ognjen Milicevic, Natasa Dragasevic-Miskovic, Marija Brankovic, Milena Jankovic, Ivana Novakovic, Marina Svetel, Elka Stefanova, Vladimir Kostic
Publikováno v:
Genetika. 54:1313-1330
These include, among others, two forms of atypical Parkinsonism, multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). This study aimed to assess the potential role of C9orf72 repeat expansions among Serbian patients diagnosed with
Autor:
Marija Brankovic, Natasa Dragasevic, Valerija Dobricic, Ales Maver, Gaber Bergant, Igor Petrovic, Stojan Peric, Ana Marjanovic, Milena Jankovic, Jasna Jancic, Ivana Novakovic, Borut Peterlin, Marina Svetel, Vladimir Kostic
Publikováno v:
Genetika. 54:395-409
The aim of the study was to analyze the genetic basis of a various range of neurodegenerative disorders manifesting by movement disorders (MD) using next generation sequencing (NGS) clinical exome panel. The study included a total number of 42 cases,