Risultati della ricerca - Daniela Di Bella
- Mostra 1 - 17 risultati su 17
-
1
-
2
Screening for <i>SH3TC2</i> gene mutations in a series of demyelinating recessive Charcot‐Marie‐Tooth disease (CMT4) di Giuseppe Piscosquito, Paola Saveri, Stefania Magri, José Berciano, Claudia Gandioli, Michela Morbin, Daniela Di Bella, Isabella Moroni, Franco Taroni, Davide Pareyson
Pubblicazione 2016Artigo -
3
Sensitive spatial genome wide expression profiling at cellular resolution di Robert R. Stickels, Evan Murray, Pawan Kumar, Jilong Li, Jamie L. Marshall, Daniela Di Bella, Paola Arlotta, Evan Z. Macosko, Fei Chen
Pubblicazione 2020Pré-impressão -
4
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22–q11.2 di Claudia Cagnoli, Caterina Mariotti, Franco Taroni, Marco Seri, Alessandro Brussino, Chiara Michielotto, Marina Grisoli, Daniela Di Bella, Nicola Migone, Cinzia Gellera, Stefano Di Donato, Alfredo Brusco
Pubblicazione 2005Artigo -
5
Concurrent <i>AFG3L2</i> and <i>SPG7</i> mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation di Stefania Magri, Valentina Fracasso, Massimo Plumari, Enrico Alfei, Daniele Ghezzi, Cinzia Gellera, P. Rusmini, Angelo Poletti, Daniela Di Bella, Antonio E. Elia, Chiara Pantaleoni, Franco Taroni
Pubblicazione 2018Artigo -
6
Subclinical leukodystrophy and infertility in a man with a novel homozygous <i>CLCN2</i> mutation di Daniela Di Bella, Davide Pareyson, M. Savoiardo, Laura Farina, José Berciano, Serena Caldarazzo, Anna Sagnelli, Sara Bonato, Simone Nava, Nereo Bresolin, Gioacchino Tedeschi, Franco Taroni, Ettore Salsano
Pubblicazione 2014Artigo -
7
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48 di Stefania Magri, Lorenzo Nanetti, Cinzia Gellera, Elisa Sarto, Elena Rizzo, Alessia Mongelli, Benedetta Ricci, Roberto Fancellu, Luisa Sambati, Pietro Cortelli, Alfredo Brusco, Maria Grazia Bruzzone, Caterina Mariotti, Daniela Di Bella, Franco Taroni
Pubblicazione 2021Artigo -
8
Excess of High Activity Monoamine Oxidase A Gene Promoter Alleles in Female Patients with Panic Disorder di J. Deckert, Marco Catalano, Yana V. Syagailo, Monica Bosi, Olga Okladnova, Daniela Di Bella, Markus M. Nöthen, Pietro Maffei, Petra Franke, J. Fritze, W. Maier, Peter Propping, H. Beckmann, Laura Bellodi, Klaus‐Peter Lesch
Pubblicazione 1999Artigo -
9
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48 di Viviana Pensato, Barbara Castellotti, Cinzia Gellera, Davide Pareyson, José Berciano, Lorenzo Nanetti, Ettore Salsano, Giuseppe Piscosquito, Elisa Sarto, Marica Eoli, Isabella Moroni, Paola Soliveri, E. Lamperti, Luisa Chiapparini, Daniela Di Bella, Franco Taroni, Caterina Mariotti
Pubblicazione 2014Artigo -
10
Multisystemic<i>SYNE1</i>ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum di Inès Mademan, Florian Harmuth, Ilaria Giordano, Dagmar Timmann, Stefania Magri, Tine Deconinck, Jens Claaßen, Daniel Jokisch, Gençer Genç, Daniela Di Bella, Silvia Romito, Rebecca Schüle, Stephan Züchner, Franco Taroni, Thomas Klockgether, Lüdger Schöls, Peter De Jonghe, Peter Bauer, EOA Consortium, Jonathan Baets, Matthis Synofzik
Pubblicazione 2016Carta -
11
The 5-HT2A −1438G/A polymorphism in anorexia nervosa: a combined analysis of 316 trios from six European centres di Philip Gorwood, J. Adès, Laura Bellodi, Elena Cellini, David Collier, Daniela Di Bella, Margarida Bernardo, Xavier Estivill, Fernando Fernández‐Aranda, Mónica Gratacòs, Johannes Hebebrand, Anke Hinney, Xun Hu, Andreas Karwautz, A. Kipman, M-C Mouren-Siméoni, Benedetta Nacmias, Marta Ribasés, Helmut Remschmidt, Valdo Ricca, C. M. Rotella, Sandro Sorbi, Janet Treasure
Pubblicazione 2002Artigo -
12
Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations di Marta Ribasés, Mónica Gratacòs, Fernando Fernández‐Aranda, Laura Bellodi, Claudette Boni, Marija Anderluh, Maria Cristina Cavallini, Elena Cellini, Daniela Di Bella, Stefano Erzegovesi, Christine Foulon, Mojca Gabrovsek, Philip Gorwood, Johannes Hebebrand, Anke Hinney, Jo Holliday, Xun Hu, Andreas Karwautz, A. Kipman, Radovan Komel, Benedetta Nacmias, Helmut Remschmidt, Valdo Ricca, Sandro Sorbi, Martina Tomori, Gudrun Wagner, Janet Treasure, David Collier, Xavier Estivill
Pubblicazione 2004Artigo -
13
Fat Mass and Obesity-Associated Gene (<b><i>FTO</i></b>) in Eating Disorders: Evidence for Association of the rs9939609 Obesity Risk Allele with Bulimia ner... di Timo D. Müller, Brandon Greene, Laura Bellodi, Maria Cristina Cavallini, Elena Cellini, Daniela Di Bella, Stefan Ehrlich, Stefano Erzegovesi, Xavier Estivill, Fernando Fernández‐Aranda, Manfred Fichter, Christian Fleischhaker, Susann Scherag, Mónica Gratacòs, Harald Grallert, Beate Herpertz‐Dahlmann, Wolfgang Herzog, Thomas Illig, Ulrike Lehmkuhl, Benedetta Nacmias, Marta Ribasés, Valdo Ricca, H. Schäfer, André Scherag, Sandro Sorbi, H.-Erich Wichmann, Johannes Hebebrand, Anke Hinney
Pubblicazione 2012Artigo -
14
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study di Matthis Synofzik, Katrien Smets, Martial Mallaret, Daniela Di Bella, Constanze Gallenmüller, Jonathan Baets, Martin Schulze, Stefania Magri, Elisa Sarto, Mona Mustafa, Tine Deconinck, Tobias B. Haack, Stephan Züchner, Michael Gonzalez, Dagmar Timmann, Claudia Stendel, Thomas Klopstock, Alexandra Dürr, Christine Tranchant, Marc Sturm, Wahiba Hamza, Lorenzo Nanetti, Caterina Mariotti, Michel Kœnig, Lüdger Schöls, Rebecca Schüle, Peter De Jonghe, Mathieu Anheim, Franco Taroni, Peter Bauer
Pubblicazione 2016Artigo -
15
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias di Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Jennifer Faber, Judith Van Gaalen, Joana Damásio, Zofia Fleszar, Michele Tosi, Clarissa Rocca, Giovanna De Michele, Martina Minnerop, Claire Ewenczyk, Filippo M. Santorelli, Anna Heinzmann, Thomas D. Bird, Matthias Amprosi, Elisabetta Indelicato, Alberto Benussi, Perrine Charles, Claudia Stendel, Silvia Romano, Marina Scarlato, Isabelle Le Ber, Maria Teresa Bassi, Mercedes Serrano, Tanja Schmitz‐Hübsch, Sarah Doss, Gijs A.J. Van Velzen, Quentin Thomas, Antonio Trabacca, Juan Darío Ortigoza‐Escobar, Stefano D’Arrigo, Dagmar Timmann, Chiara Pantaleoni, Andrea Martinuzzi, Elsa Besse-Pinot, Luca Marsili, Ettore Cioffi, Francesco Nicita, Alejandro Giorgetti, Isabella Moroni, Romina Romaniello, Carlo Casali, Penina Ponger, Giorgio Casari, Susanne T. de Bot, Giovanni Ristori, Lubov Blumkin, Barbara Borroni, Cyril Goizet, Cécilia Marelli, Sylvia Boesch, Mathieu Anheim, Alessandro Filla, Henry Houlden, Enrico Bertini, Thomas Klopstock, Matthis Synofzik, Florence Riant, Ginevra Zanni, Stefania Magri, Daniela Di Bella, Lorenzo Nanetti, Jorge Sequeiros, Jorge Oliveira, Bart van de Warrenburg, Lüdger Schöls, Franco Taroni, Alexis Brice, Alexandra Dürr
Pubblicazione 2023Artigo -
16
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease di 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
Pubblicazione 2024Artigo -
17
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis di Natalia Dominik, Stefania Magri, Riccardo Currò, Elena Abati, Stefano Facchini, Marinella Corbetta, Hannah Macpherson, Daniela Di Bella, Elisa Sarto, Igor Stevanovski, Sanjog R. Chintalaphani, Fulya Akçimen, Arianna Manini, Elisa Vegezzi, Ilaria Quartesan, Kylie-Ann Montgomery, Valentina Pirota, Emmanuele Crespan, Cecilia Perini, Glenda Paola Grupelli, Pedro José Tomaselli, Wilson Marques, John C. Ambrose, Prabhu Arumugam, Emma L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, Helen Brittain, Mark J. Caulfield, Gary C.W. Chan, C.E.H. Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió‐Tarí, Emil K. Gustavsson, Janna M. Hackett, Dina Halai, Angela Hamblin, S Henderson, J. Holman, Tim Hubbard, Kristina Ibáñez, Robert W. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, L. Lahnstein, Keith A. Lawson, S. E. A. Leigh, I. U. S. Leong, Fernando López, F. Maleady-Crowe, James Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Chris A. Odhams, Christine Patch, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, Thomas R. Rogers, Mina Ryten, Bianca Rugginini, K Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Damian Smedley, Katherine R. Smith, Alona Sosinsky, W. Spooner, Hanna E. Stevens, Ashley Stuckey, Rukhsana Sultana, Ellen Thomas, Simon R. Thompson, Carolyn Tregidgo, Arianna Tucci, Edward E. Walsh, Scott Watters, M. J. Welland, Eleanor Williams, Kate Witkowska, Scott Wood, Magdalena Zarowiecki, Joseph Shaw, James M. Polke
Pubblicazione 2023Artigo
Strumenti per la ricerca:
Soggetti correlati
Biology
Genetics
Gene
Medicine
Allele
Disease
Internal medicine
Pathology
Phenotype
Psychiatry
Genotype
Psychology
Age of onset
Ataxia
Cerebellar ataxia
Haplotype
Neuroscience
Receptor
Single-nucleotide polymorphism
Spinocerebellar ataxia
Anorexia nervosa
Anxiety
Bulimia nervosa
Eating disorders
Endocrinology
Environmental health
Hereditary spastic paraplegia
Missense mutation
Panic
Panic disorder