Zoekresultaten - Lea Leonardis
- Toon 1 - 7 resultaten van 7
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1
Differential expression of microRNAs and other small RNAs in muscle tissue of patients with ALS and healthy age-matched controls door Anja Kovanda, Lea Leonardis, Janez Zidar, Blaž Koritnik, Leja Dolenc‐Grošelj, Stanislava Ristic Kovacic, Tomaž Curk, Boris Rogelj
Gepubliceerd in 2018Artigo -
2
Differential Expression of Several miRNAs and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients door Katarina Vrabec, Emanuela Boštjančič, Blaž Koritnik, Lea Leonardis, Leja Dolenc Grošelj, Janez Zidar, Boris Rogelj, Damjan Glavač, Metka Ravnik‐Glavač
Gepubliceerd in 2018Artigo -
3
Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I door Christian Guelly, Peng-Peng Zhu, Lea Leonardis, Lea Papić, Janez Zidar, Maria Schabhüttl, Heimo Strohmaier, Joachim Weis, Tim M. Strom, Jonathan Baets, Jan C. Willems, Peter De Jonghe, Mary M. Reilly, Eleonore Fröhlich, Martina Hatz, Slave Trajanoski, Thomas R. Pieber, Andreas Janecke, Craig Blackstone, Michaela Auer‐Grumbach
Gepubliceerd in 2010Artigo -
4
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion door Andrea Cortese, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J. Beecroft, Zane Jaunmuktane, Zoe Dyer, Gianina Ravenscroft, Phillipa J. Lamont, Stuart Mossman, Andrew Chancellor, Thierry Maisonobe, Yann Péréon, Cécile Cauquil, Silvia Colnaghi, Giulia Mallucci, Riccardo Currò, Pedro José Tomaselli, Gilbert Thomas‐Black, Roisin Sullivan, Stéphanie Efthymiou, Alexander M. Rossor, Matilde Laurá, Menelaos Pipis, Alejandro Horga, James M. Polke, Diego Kaski, Rita Horváth, Patrick F. Chinnery, Wilson Marques, Cristina Tassorelli, Grazia Devigili, Lea Leonardis, Nicholas Wood, Adolfo M. Bronstein, Paola Giunti, Stephan Züchner, Tanya Stojkovic, Nigel G. Laing, Richard Roxburgh, Henry Houlden, Mary M. Reilly
Gepubliceerd in 2020Artigo -
5
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy door Jorge Alonso‐Pérez, Lídia González-Quereda, Luca Bello, Michela Guglieri, Volker Straub, P. Gallano, Claudio Semplicini, Elena Pegoraro, Vittoria Zangaro, Andrés Nascimento, C. Ortez, Giacomo P. Comi, Leroy ten Dam, Marjolein Visser, Anneke J. van der Kooi, Cristina Garrido, Manuela Santos, Ulrike Schara, Andrea Gangfuß, Nicoline Løkken, J. Storgaard, John Vissing, Benedikt Schoser, Gabriele Dekomien, B. Udd, Johanna Palmio, Adele D'Amico, Luisa Politano, Vincenzo Nigro, Claudio Bruno, Chiara Panicucci, Anna Sárközy, Omar Abdel‐Mannan, Alicia Alonso‐Jiménez, Kristl G. Claeys, David Gómez‐Andrés, Francina Munell, Laura Costa-Comellas, Jana Haberlová, Marie Rohlenová, De Vos Elke, Jan De Bleecker, Cristina Domínguez‐González, Giorgio Tasca, Claudia Weiß, Nicolas Deconinck, Roberto Fernández‐Torrón, Adolfo López de Munaín, Ana Camacho, Béla Melegh, Kinga Hadzsiev, Lea Leonardis, Blaž Koritnik, Matteo Garibaldi, Juan C. de León-Hernández, Edoardo Malfatti, Arturo Fraga-Bau, Isabelle Richard, Isabel Illa, Jordi Díaz-Manera
Gepubliceerd in 2020Artigo -
6
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease door Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández‐Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard Roxburgh, Inés Albájar, Catherine Ashton, Nick Beauchamp, Sarah J. Beecroft, Emilia Bellone, José Berciano, Petya Bogdanova‐Mihaylova, Barbara Borroni, Bernard Brais, Enrico Bugiardini, Catarina Falcão de Campos, Aisling Carr, Liam Carroll, Francesca Castellani, Tiziana Cavallaro, Patrick F. Chinnery, Silvia Colnaghi, Giuseppe Cosentino, Joana Damásio, Soma Das, Grazia Devigili, Daniela Di Bella, D J Dick, Alexandra Dürr, Amar El-Saddig, Jennifer Faber, Moreno Ferrarini, Massimiliano Filosto, Geraint Fuller, Salvatore Gallone, Chiara Gemelli, Marina Grandis, John Hardy, Channa Hewamadduma, Rita Horváth, Vincent Huin, Daniele Imperiale, Pablo Iruzubieta, Diego Kaski, Andrew King, Thomas Klockgether, Müge Kovancılar Koç, Kishore R. Kumar, Thierry Küntzer, Nigel G. Laing, Matilde Laurá, Timothy Lavin, Peter Leigh, Lea Leonardis, Michael P. Lunn, Stefania Magri, Francesca Magrinelli, Maria João Malaquias, Michelangelo Mancuso, Hadi Manji, Sara Massucco, John McConville, Renato P. Munhoz, Sara Nagy, Alain Ndayisaba, Andrea H. Németh, Luiz Eduardo Novis, Johanna Palmio, Elena Pegoraro, David Pellerin, Benedetta Perrone, Chiara Pisciotta, James M. Polke, Malcolm J. Proudfoot, Laura Orsi, Aleksandar Radunović, Nilo Riva, Aiko Robert, Riccardo Ronco, Elena Rossini, Alexander M. Rossor, Irmak Şahbaz, Qais Sa’di, Ettore Salsano, Alessandro Salvalaggio, Lucio Santoro, Elisa Sarto
Gepubliceerd in 2024Artigo -
7
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis door Wouter van Rheenen, Aleksey Shatunov, Annelot M. Dekker, Russell L. McLaughlin, Frank P. Diekstra, Sara L. Pulit, Rick A. A. van der Spek, Urmo Võsa, Simone de Jong, Matthew R. Robinson, Jian Yang, Isabella Fogh, Perry Tc van Doormaal, Gijs Tazelaar, Max Koppers, Anna M. Blokhuis, William Sproviero, Ashley Jones, Kevin P. Kenna, Kristel R. van Eijk, Oliver Harschnitz, Raymond D. Schellevis, William J. Brands, Jelena Medic, Androniki Menelaou, Alice Vajda, Nicola Ticozzi, Kuang Lin, Boris Rogelj, Katarina Vrabec, Metka Ravnik‐Glavač, Blaž Koritnik, Janez Zidar, Lea Leonardis, Leja Dolenc Grošelj, Stéphanie Millecamps, François Salachas, Vincent Meininger, Mamede de Carvalho, Susana Pinto, Jesús S. Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen Morrison, Pamela J. Shaw, John Hardy, Richard W. Orrell, Alan Pittman, Katie Sidle, Pietro Fratta, Andrea Malaspina, Simon Topp, Susanne Petri, Susanne Abdulla, Carsten Drepper, Michael Sendtner, Thomas Meyer, Roel A. Ophoff, Kim A. Staats, Martina Wiedau‐Pazos, Catherine Lomen‐Hoerth, Vivianna M. Van Deerlin, John Q. Trojanowski, Lauren Elman, Leo McCluskey, A. Nazlı Başak, Ceren Tunca, Hamid Hamzeiy, Yeşim Parman, Thomas Meitinger, Peter Lichtner, Milena Radivojkov‐Blagojevic, Christian Andrés, Cindy Maurel, Gilbert Bensimon, G. Bernhard Landwehrmeyer, Alexis Brice, Christine Payan, Safaa Saker-Delye, Alexandra Dürr, Nicholas Wood, Lukas Tittmann, Wolfgang Lieb, André Franke, Marcella Rietschel, Sven Cichon, Markus M. Nöthen, Philippe Amouyel, Christophe Tzourio, Jean‐François Dartigues, André G. Uitterlinden, Fernando Rivadeneira, Karol Estrada, Albert Hofman, Charles Curtis, Hylke M. Blauw, Anneke J. van der Kooi
Gepubliceerd in 2016Artigo
Zoekinstrumenten:
Gerelateerde Onderwerpen
Biology
Gene
Genetics
Medicine
Disease
Internal medicine
Allele
Amyotrophic lateral sclerosis
Gene expression
Genotype
Mutation
Neuroscience
Trinucleotide repeat expansion
microRNA
Age of onset
Anatomy
Ataxia
Audiology
Bioinformatics
Cerebellar ataxia
Cohort
Cohort study
Compound heterozygosity
Computational biology
Computer science
Exon
Expression quantitative trait loci
Genetic architecture
Genetic association
Genome-wide association study