Arama Sonuçları - Viorica Chelban
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1
An update on advances in magnetic resonance imaging of multiple system atrophy Yazar: Viorica Chelban, Martina Bocchetta, Sara Hassanein, Nourelhoda A. Haridy, Henry Houlden, Jonathan D. Rohrer
Baskı/Yayın Bilgisi 2018Revisão -
2
Multiple system atrophy Yazar: Yee Yen Goh, Emma Saunders, Samantha Pavey, Emma Rushton, Niall Quinn, Henry Houlden, Viorica Chelban
Baskı/Yayın Bilgisi 2023Revisão -
3
<i>RFC1</i>-related ataxia is a mimic of early multiple system atrophy Yazar: Roisin Sullivan, Wai Yan Yau, Viorica Chelban, Salvatore Rossi, Natalia Dominik, Emer O’Connor, John Hardy, Nicholas Wood, Andrea Cortese, Henry Houlden
Baskı/Yayın Bilgisi 2021Carta -
4
Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromes Yazar: Edwin Jabbari, John Woodside, Tong Guo, Nadia Magdalinou, Viorica Chelban, Dilan Athauda, Andrew J. Lees, Thomas Foltynie, Henry Houlden, Alistair Church, Joshua Shulman, James B. Rowe, Henrik Zetterberg, Huw R. Morris
Baskı/Yayın Bilgisi 2019Artigo -
5
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination Yazar: Viorica Chelban, Nisha Patel, Jana Vandrovcová, M. Natalia Zanetti, David S. Lynch, Mina Ryten, Juan A. Botía, Oscar D. Bello, Eloise Tribollet, Stéphanie Efthymiou, Indran Davagnanam, Fahad A. Bashiri, Nicholas Wood, James E. Rothman, Fowzan S. Alkuraya, Henry Houlden
Baskı/Yayın Bilgisi 2017Artigo -
6
Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing Yazar: Diego Pérez‐Rodríguez, Maria Kalyva, Melissa Leija‐Salazar, Tammaryn Lashley, Maxime Tarabichi, Viorica Chelban, Steve Gentleman, Lucía Schottlaender, Hannah Franklin, George Vasmatzis, Henry Houlden, Anthony H.V. Schapira, Thomas T. Warner, Janice L. Holton, Zane Jaunmuktane, Christos Proukakis
Baskı/Yayın Bilgisi 2019Artigo -
7
Identical Seeding Characteristics and Cryo‐EM Filament Structures in FTLD‐Synuclein and Typical Multiple System Atrophy Yazar: Patrick W. Cullinane, Yang Yang, Viorica Chelban, Yee Yen Goh, Kirsten Ebanks, Toby J Curless, Sarah Wrigley, Eduardo De Pablo‐Fernández, Janice L. Holton, Sew‐Yeu Peak‐Chew, Catarina Franco, Amanda L. Woerman, Henry Houlden, Thomas T. Warner, Sjors H. W. Scheres, Michel Goedert, Zane Jaunmuktane
Baskı/Yayın Bilgisi 2025Artigo -
8
Genetic and phenotypic characterization of complex hereditary spastic paraplegia Yazar: Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S. Lynch, Marilena Elpidorou, Conceição Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A. Hamed, Nourelhoda A. Haridy, Monica Federoff, Elisavet Preza, Deborah Hughes, Alan Pittman, Zane Jaunmuktane, Sebastian Brandner, Georgia Xiromerisiou, Sarah Wiethoff, Lucía Schottlaender, Christos Proukakis, Huw R. Morris, Thomas T. Warner, Kailash P. Bhatia, L.V. Prasad Korlipara, Andrew Singleton, John Hardy, Nicholas Wood, Patrick A. Lewis, Henry Houlden
Baskı/Yayın Bilgisi 2016Artigo -
9
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis Yazar: Marc Vila Cuenca, Giacomo Marchi, Anna Barqué, Clara Esteban-Jurado, Alessandro Marchetto, Alejandro Giorgetti, Viorica Chelban, Henry Houlden, Nicholas Wood, Chiara Piubelli, Marina Dorigatti Borges, Dulcinéia Martins de Albuquerque, Kleber Yotsumoto Fertrin, Ester Jové-Buxeda, Jordi Sánchez‐Delgado, Neus Baena, Birutė Burnytė, Algirdas Utkus, Fabiana Busti, Gintaras Kaubrys, Eda Suku, Kamil Kowalczyk, Bartosz Karaszewski, John B. Porter, Sally Pollard, Perla Eleftheriou, P Bignell, Domenico Girelli, Mayka Sánchez
Baskı/Yayın Bilgisi 2020Artigo -
10
Progression of atypical parkinsonian syndromes: PROSPECT-M-UK study implications for clinical trials Yazar: Duncan Street, Edwin Jabbari, Alyssa Costantini, P Simon Jones, Negin Holland, Timothy Rittman, Marte Theilmann Jensen, Viorica Chelban, Yen Yee Goh, Tong Guo, Amanda Heslegrave, Federico Roncaroli, Johannes Klein, Olaf Ansorge, Kieren Allinson, Zane Jaunmuktane, Tamas Revesz, Thomas T. Warner, Andrew J. Lees, Henrik Zetterberg, Lucy L. Russell, Martina Bocchetta, Jonathan D. Rohrer, David J. Burn, Nicola Pavese, Alexander Gerhard, Christopher Kobylecki, P. Nigel Leigh, Alistair Church, Joshua Shulman, Henry Houlden, Huw R. Morris, James B. Rowe
Baskı/Yayın Bilgisi 2023Artigo -
11
Diagnosis Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome Yazar: Edwin Jabbari, Negin Holland, Viorica Chelban, P. Simon Jones, Ruth Lamb, Charlotte Rawlinson, Tong Guo, Alyssa Costantini, Manuela Tan, Amanda Heslegrave, Federico Roncaroli, Johannes Klein, Olaf Ansorge, Kieren Allinson, Zane Jaunmuktane, Janice L. Holton, Tamás Révész, Thomas T. Warner, Andrew J. Lees, Henrik Zetterberg, Lucy L. Russell, Martina Bocchetta, Jonathan D. Rohrer, Nigel Williams, Donald G. Grosset, David J. Burn, Nicola Pavese, Alexander Gerhard, Christopher Kobylecki, P. Nigel Leigh, Alistair Church, Joshua Shulman, John Woodside, Henry Houlden, James B. Rowe, Huw R. Morris
Baskı/Yayın Bilgisi 2019Artigo -
12
<i>PDXK</i> mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation Yazar: Viorica Chelban, Matthew P. Wilson, Jodi Warman‐Chardon, Jana Vandrovcová, M. Natalia Zanetti, Eleni Zamba‐Papanicolaou, Stéphanie Efthymiou, Simon Pope, Maria R. Conte, Giancarlo Abis, Yo‐Tsen Liu, Eloise Tribollet, Nourelhoda A. Haridy, Juan A. Botía, Mina Ryten, Paschalis Nicolaou, Anna Minaidou, Kyproula Christodoulou, Kristin D. Kernohan, Alison Eaton, Matthew Osmond, Yoko Ito, Pierre R. Bourque, James E.C. Jepson, Oscar D. Bello, Fion Bremner, Carla Cordivari, Mary M. Reilly, Martha Foiani, Amanda Heslegrave, Henrik Zetterberg, Simon Heales, Nicholas Wood, James E. Rothman, Kym M. Boycott, Philippa B. Mills, Peter T. Clayton, Henry Houlden
Baskı/Yayın Bilgisi 2019Artigo -
13
Neurofilament light levels predict clinical progression and death in multiple system atrophy Yazar: Viorica Chelban, Elham Nikram, Alexandra Pérez‐Soriano, Carlo Wilke, Alexandra Foubert‐Samier, Nirosen Vijiaratnam, Tong Guo, Edwin Jabbari, Simisola Olufodun, Mariel Gonzalez, Konstantin Senkevich, Brice Laurens, Patrice Péran, Olivier Rascol, Anne Pavy‐Le Traon, Emily Todd, Alyssa Costantini, Sondos Alikhwan, Gerome Breen, Bai Lin Ng, Esteban Muñoz, Cèlia Painous, Yaroslau Compta, Carme Junqué, Bàrbara Segura, Kristina Zhelcheska, Henny Wellington, Lüdger Schöls, Zane Jaunmuktane, Christopher Kobylecki, Alistair Church, Joshua Shulman, James B. Rowe, P. Nigel Leigh, Luke A. Massey, David J. Burn, Nicola Pavese, Thomas Foltynie, Sofya Pchelina, Nicholas Wood, Amanda Heslegrave, Henrik Zetterberg, Martina Bocchetta, Jonathan D. Rohrer, Marı́a José Martı́, Matthis Synofzik, Huw R. Morris, Wassilios G. Meissner, Henry Houlden
Baskı/Yayın Bilgisi 2022Artigo -
14
A genome-wide association study in multiple system atrophy Yazar: Anna Sailer, Sonja W. Scholz, Michael A. Nalls, Claudia Schulte, Monica Federoff, T. Ryan Price, Andrew J. Lees, Owen A. Ross, Dennis W. Dickson, Kin Y. Mok, Niccolò E. Mencacci, Lucía Schottlaender, Viorica Chelban, Helen Ling, Sean S. O’Sullivan, Nicholas Wood, Bryan J. Traynor, Luigi Ferrucci, Howard J. Federoff, Timothy R. Mhyre, Huw R. Morris, Günther Deuschl, Niall Quinn, Håkan Widner, Alberto Albanese, Jon Infante, Kailash P. Bhatia, Werner Poewe, Wolfgang H. Oertel, Günter U. Höglinger, Ullrich Wüllner, Stefano Goldwurm, Maria Teresa Pellecchia, Joaquim J. Ferreira, Eduardo Tolosa, Bastiaan R. Bloem, Olivier Rascol, Wassilios G. Meissner, John Hardy, Tamás Révész, Janice L. Holton, Thomas Gasser, Gregor K. Wenning, Andrew Singleton, Henry Houlden, Giovanna Calandra‐Buonaura, Sabina Capellari, Pietro Cortelli
Baskı/Yayın Bilgisi 2016Artigo -
15
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders Yazar: Niccolò E. Mencacci, Regina H. Reynolds, Sonia García-Ruiz, Jana Vandrovcová, Paola Forabosco, Álvaro Sánchez‐Ferrer, Viola Volpato, Juan A. Botía, Karishma D’Sa, Paola Forabosco, Sebastian Guelfi, John Hardy, Jana Vandrovcová, C. L. MacKenzie, Adaikalavan Ramasamy, Mina Ryten, Colin Smith, Daniah Trabzuni, Michael E. Weale, Alastair Noyce, Rauan Kaiyrzhanov, Ben Middlehurst, Demis A. Kia, Manuela Tan, Henry Houlden, Huw R. Morris, Hélène Plun‐Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, José Brás, John P. Quinn, Kin Y. Mok, Kerri J. Kinghorn, Kimberley J. Billingsley, Nicholas Wood, Patrick A. Lewis, Rita Guerreiro, Ruth C. Lovering, Lea R’Bibo, Claudia Manzoni, Mie Rizig, Mina Ryten, Sebastian Guelfi, Valentina Escott‐Price, Viorica Chelban, Thomas Foltynie, Nigel Williams, Chingiz Shashakin, Nazira Zharkinbekova, Elena Zholdybayeva, Akbota Aitkulova, Kirsten Harvey, Michael E. Weale, Kailash P. Bhatia, Caleb Webber, John Hardy, Juan A. Botía, Mina Ryten
Baskı/Yayın Bilgisi 2020Artigo -
16
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications Yazar: Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcová, David Murphy, Anne‐Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stéphanie Efthymiou, Lucía Schottlaender, Heba Morsy, Annarita Scardamaglia, Gerome Breen, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten Brønstad, Sandrine Tury, Andrés Moreno-De-Luca, Anne Boland, Robert Olaso, Jean‐François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Al-Ajlan, Firdous Abdulwahab, Jean‐Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Güngör, Semra Hız Kurul, Hanns Lochmüller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas Wood, Rita Horváth, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, Thomas Arnesen, Henry Houlden
Baskı/Yayın Bilgisi 2024Artigo -
17
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification Yazar: Lucía Schottlaender, Rosella Abeti, Zane Jaunmuktane, Carol Macmillan, Viorica Chelban, Benjamin O’Callaghan, John McKinley, Reza Maroofian, Stéphanie Efthymiou, Alkyoni Athanasiou‐Fragkouli, Raeburn Forbes, Marc P. M. Soutar, John H. Livingston, Bernardett Kalmar, Orlando Swayne, Gary Hotton, Alan Pittman, João Ricardo Mendes de Oliveira, Maria De Grandis, Angela Richard-Loendt, Francesca Launchbury, Juri Althonayan, Gavin McDonnell, Aisling Carr, Suliman Khan, Christian Beetz, Atıl Bişgin, Sevcan Tuğ Bozdoğan, Amber Begtrup, Erin Torti, Linda Greensmith, Paola Giunti, Patrick J. Morrison, Sebastian Brandner, Michel Aurrand‐Lions, Henry Houlden, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed
Baskı/Yayın Bilgisi 2020Artigo -
18
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Yazar: Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcová, Stéphanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Bürglen, Stéphanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Rosa Pisani, Conceição Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Guéden, Omer Bar‐Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago‐Sim, Richard Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong‐Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad Mahdi Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz‐Rogers, Eric W. Klee, David A. Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier González‐Peñas, Ãngel Carracedo, Arie van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Héron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, Michael G. Hanna, Enrico Bugiardini, Isabel C. Hostettler, Benjamin O’Callaghan, Alaa Khan, Andrea Cortese, Emer O’Connor, Wai Y. Yau, Thomas Bourinaris, Rauan Kaiyrzhanov, Viorica Chelban, M Madej, Maria C. Diana, Maria S. Vari, Marina Pedemonte, Claudio Bruno, Ganna Balagura, Marcello Scala, Chiara Fiorillo, Lino Nobili, Nancy T. Malintan, M. Natalia Zanetti, Shyam S. Krishnakumar, Gabriele Lignani, James E.C. Jepson, Paolo Broda, Sımona Baldassari, Pia Rossi, Floriana Fruscione, Francesca Madia
Baskı/Yayın Bilgisi 2019Artigo -
19
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset Yazar: Kimberley J. Billingsley, Inês A. Barbosa, Sara Bandrés‐Ciga, John P. Quinn, Vivien J. Bubb, Charu Deshpande, Juan A. Botía, Regina H. Reynolds, David Zhang, Michael A. Simpson, Cornelis Blauwendraat, Ziv Gan‐Or, J. Raphael Gibbs, Mike A. Nalls, Andrew Singleton, Alastair Noyce, Arianna Tucci, Ben Middlehurst, Demis A. Kia, Mingpu Tan, Henry Houlden, Huw R. Morris, Hélène Plun‐Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, José Brás, Kin Y. Mok, Kerri J. Kinghorn, Nicholas Wood, Patrick A. Lewis, Rita Guerreiro, Ruth C. Lovering, Lea R’Bibo, Mie Rizig, Valentina Escott‐Price, Viorica Chelban, Thomas Foltynie, N. Williams, Alexis Brice, Fabrice Danjou, Suzanne Lesage, María Martínez, Ayush Giri, Claudia Schulte, Kathrin Brockmann, Javier Simón‐Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Aude Nicolas, Mark Cookson, Faraz Faghri, Dena Hernández, J. Shulman, Laurie Robak, Steven Lubbe, Steven Finkbeiner, Niccolò E. Mencacci, Codrin Lungu, Sonja W. Scholz, Xylena Reed, Hampton L. Leonard, Guy A. Rouleau, Lynne Krohan, JJ van Hilten, Johan Marinus, Astrid Adarmes‐Gómez, M. Aguilar, Ignacio Álvarez, Victoria Álvarez, Francisco Javier Barrero, J. Bergareche Yarza, Inmaculada Bernal‐Bernal, Marta Blázquez Estrada, Magally Bernal, María Teresa Boungiorno, Dolores Buiza‐Rueda, Ana Cámara, María Cárcel, F. Carrillo, Mario Carrión‐Claro, Debora Cerdan, Jordi Clarimón, Yaroslau Compta, Mónica Díez-Fairén, Oriol Dols‐Icardo, J. Duarte, R. l. Duran, Francisco Escamilla‐Sevilla, Mario Ezquerra, Manel Fernández, Rubén Fernández‐Santiago, C. Garcı́a, Pedro Ruiz, Pilar Gómez‐Garre, Mégane Heredia, Isabel González Aramburu, Ana Gorostidi Pagola
Baskı/Yayın Bilgisi 2019Artigo -
20
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies Yazar: Mike A. Nalls, Cornelis Blauwendraat, Costanza L. Vallerga, Karl Heilbron, Sara Bandrés‐Ciga, Diana Chang, Manuela Tan, Demis A. Kia, Alastair Noyce, Angli Xue, José Brás, Emily Young, Rainer von Coelln, Javier Simón‐Sánchez, Claudia Schulte, Manu Sharma, Lynne Krohn, Lasse Pihlstrøm, Ari Siitonen, Hirotaka Iwaki, Hampton L. Leonard, Faraz Faghri, J. Raphael Gibbs, Dena Hernández, Sonja W. Scholz, Juan A. Botía, María Martínez, Jean‐Christophe Corvol, Suzanne Lesage, Joseph Jankovic, Lisa M. Shulman, Margaret Sutherland, Pentti J. Tienari, Kari Majamaa, Mathias Toft, Ole A. Andreassen, Tushar Bangale, Alexis Brice, Jian Yang, Ziv Gan‐Or, Thomas Gasser, Peter Heutink, Joshua Shulman, Nicholas Wood, David A. Hinds, John Hardy, Huw R. Morris, Jacob Gratten, Peter M. Visscher, Robert Graham, Andrew Singleton, Astrid Adarmes‐Gómez, Miquel Aguilar, Akbota Aitkulova, Vadim Akhmetzhanov, Roy N. Alcalay, Ignacio Álvarez, Victoria Álvarez, Sara Bandrés‐Ciga, Francisco Javier Barrero, Jesús Alberto Bergareche Yarza, Inmaculada Bernal‐Bernal, Kimberley J. Billingsley, Cornelis Blauwendraat, Marta Blázquez Estrada, Marta Bonilla‐Toribio, Juan A. Botía, María Teresa Boungiorno, José Brás, Alexis Brice, Kathrin Brockmann, Vivien J. Bubb, Dolores Buiza‐Rueda, Anna Maria Novella Càmara, Fátima Carrillo, Mario Carrión‐Claro, Debora Cerdan, Viorica Chelban, Jordi Clarimón, Carl E Clarke, Yaroslau Compta, Mark Cookson, Jean‐Christophe Corvol, David W. Craig, Fabrice Danjou, Mónica Díez-Fairén, Oriol Dols‐Icardo, J. Duarte, Raquel Durán, Francisco Escamilla‐Sevilla, Valentina Escott‐Price, Mario Ezquerra, Faraz Faghri, Cici Feliz, Manel Fernández, Rubén Fernández‐Santiago, Steven Finkbeiner, Thomas Foltynie, Ziv Gan‐Or, Ciara García
Baskı/Yayın Bilgisi 2019Revisão
Arama Araçları:
İlgili Konular
Medicine
Biology
Genetics
Gene
Disease
Pathology
Internal medicine
Atrophy
Neuroscience
Mutation
Parkinson's disease
Psychiatry
Genotype
Psychology
Computational biology
Genome
Genome-wide association study
Neurology
Single-nucleotide polymorphism
Bioinformatics
Genetic association
Genetic variants
LRRK2
Mendelian randomization
Parkinsonism
Pediatrics
Physics
Progressive supranuclear palsy
Alpha-synuclein
Astronomy