Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Ela Akay"'
Publikováno v:
Epilepsy & Behavior Reports, Vol 19, Iss , Pp 100549- (2022)
Pathogenic variants in BRAT1 are associated with a spectrum of clinical syndromes ranging from Lethal Neonatal Rigidity and Multifocal Seizure syndrome (RMFSL) to Neurodevelopmental Disorder with Cerebellar Atrophy and with or without Seizures (NEDCA
Externí odkaz:
https://doaj.org/article/82e87130ded2436086f9de1a9f1da322
Autor:
Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G. Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E. Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G. MacArthur, Volker Straub
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)
Abstract Background Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be de
Externí odkaz:
https://doaj.org/article/b22d8d5ac3fd41be9eca559f06d13630
Established randomized-trial-based parameters for acute ischemic stroke care fail to consider individualized patient data, leading to attempts to support or automate treatment and diagnosis decisions using artificial intelligence methods. We review e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8ef4b7c75b32be81e7fffdc05c98c4c7
https://doi.org/10.21203/rs.3.rs-1706474/v1
https://doi.org/10.21203/rs.3.rs-1706474/v1
Autor:
Ashley N. Sigafoos, Salima El Chehadeh, Marcia C. Willing, Ela Akay, Florian Cherik, Anne-Marie E. Goyette, Vinodh Narayanan, Diane Masser-Frye, Catherine Karimov, Rhonda E. Schnur, Rebekah Bressi, Rhys H. Thomas, Gary D. Clark, Tina Barbaro-Dieber, Jill A. Rosenfeld, Carlos A. Bacino, Maria J. Guillen Sacoto, Laura Russell, Kristin Lindstrom, Caroline Schluth-Bolard, Xia Wang, Yvonne Hilhorst-Hofstee, Marcelo Vargas, Zehua Zhu, Ash Zawerton, Boris Keren, Mariëtte J.V. Hoffer, Isabelle Marey, Alice Poisson, Daphné Lehalle, Maries Joseph, Gaetan Lesca, Simon Zwolinski, Laurence Perrin, Rhoda Akilapa, Emilia K. Bijlsma, Christel Depienne, Amélie Piton, Claire G. Salter, Lucie Dupuis, Daryl A. Scott, Jolien S. Klein Wassink-Ruiter, Benjamin Cogné, Mathilde Nizon, Richard Chang, Kirsty McWalter, Myriam Srour, Perrine Charles, Anne-Claude Tabet, Natalie Canham, Sylvie Odent, Caroline Nava, Karl J. Clark, Elizabeth J. Bhoj, Jonathan Levy, Keri Ramsey, Yves Alembik, Lucia Ortega, Sophie Dupuis-Girod, Shoji Ichikawa, Christine Francannet, Marta Bertoli, Christèle Dubourg, Eric W. Klee, Ange-Line Bruel, Sebastien Moutton, Emily Fassi, Anthony Vandersteen, Abdul Haseeb, Antonina Wojcik, Patrick R. Blackburn, Lynne M. Bird, Patrick Rump, Véronique Lefebvre, Alma Kuechler, Sophie Nambot, Keren Machol, Cyril Mignot, Andreas Hartmann, Rossana Sanchez Russo, Erica H. Gerkes, Sylvie Jaillard, Roberto Mendoza-Londono, Trevor Cole, Pauline Monin
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.524-537. ⟨10.1038/s41436-019-0657-0⟩
Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 3
Genetics in Medicine, 22(3), 524-537. Nature Publishing Group
Genet Med
Genetics in Medicine, 22(3), 524-537. NATURE PUBLISHING GROUP
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.524-537. ⟨10.1038/s41436-019-0657-0⟩
Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 3
Genetics in Medicine, 22(3), 524-537. Nature Publishing Group
Genet Med
Genetics in Medicine, 22(3), 524-537. NATURE PUBLISHING GROUP
International audience; PURPOSE: Lamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fa
Autor:
Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina M. England, Kristen M. Laricchia, Thomas Mullen, Elise Valkanas, Liwen Xu, Marta Bertoli, Alison Blain, Ana B. Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso-Pérez, Jonathan Baets, Nina Barisic, Alexandra Bastian, Sabine Borell, Teodora Chamova, Kristl Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem de Ridder, Jordi Díaz-Manera, Cristina Domínguez-González, Alexis Duncan, Hacer Durmus, Nagia A. Fahmy, Maria Elena Farrugia, Roberto Fernández-Torrón, Lidia Gonzalez-Quereda, Jana Haberlova, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, Ivonne Jerico Pascual, Solange Kapetanovic, Viktorija Kenina, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera-Pruszczyk, Richa Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munain, Wolfgang Loscher, Anna Lusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, Andrés Nascimento, Shahriar Nafissi, Shirin Omidi, Carlos Ortez, Stéphanie Paquay, Yann Pereon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, Iciar Sanchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang-Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan Vílchez, Katharina Vill, John Vissing, Carina Wallgren-Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub
Publikováno v:
Genetics in medicine
Genetics in Medicine
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Genetics in Medicine
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of mu
Autor:
Paul Maddison, L. Phillips, Anna Kostera-Pruszczyk, Anna Łusakowska, Ana Töpf, L. Xu, Daniel G. MacArthur, Marta Bertoli, Kristl G. Claeys, Monkol Lek, Ela Akay, Katherine Johnson, Alexandra Bastian, Volker Straub, Stojan Peric, Vidosava Rakocevic Stojanovic, Andreas Hahn
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)
Orphanet journal of rare diseases 12(1), 173 (2017). doi:10.1186/s13023-017-0722-1
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases 12(1), 173 (2017). doi:10.1186/s13023-017-0722-1
Orphanet Journal of Rare Diseases
BACKGROUND: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected u
Autor:
John Collinge, Nicola Halliwell, Pablo Martinez-Lage, Nigel J. Cairns, Matt Baker, Neil Graff-Radford, Ela Akay, Pau Pastor, Stuart Pickering-Brown, Elena Alonso, Rosa Rademakers, Jonathan D. Rohrer, Patrizia Rizzu, Sara Rollinson, Dina Ruano, Karen E. Morrison, David Neary, Martin N. Rossor, David M. A. Mann, Julie S. Snowden, Simon Mead, Stephen Sikkink, John C. van Swieten, Rita Guerreiro, Bryan J. Traynor, Peter Heutink
Publikováno v:
Neurobiology of Aging, 30(4), 656-665. Elsevier Inc.
Rollinson, S, Rizzu, P, Sikkink, S, Baker, M, Halliwell, N, Snowden, J, Traynor, B J, Ruano, D, Cairns, N, Rohrer, J D, Mead, S, Collinge, J, Rossor, M, Akay, E, Guerreiro, R, Rademakers, R, Morrison, K E, Pastor, P, Alonso, E, Martinez-Lage, P, Graff-Radford, N, Neary, D, Heutink, P, Mann, D M A, Swieten, J & Pickering-Brown, S M 2009, ' Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration ', Neurobiology of Aging, vol. 30, no. 4, pp. 656-665 . https://doi.org/10.1016/j.neurobiolaging.2009.01.009
Neurobiology of aging
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Rollinson, S, Rizzu, P, Sikkink, S, Baker, M, Halliwell, N, Snowden, J, Traynor, B J, Ruano, D, Cairns, N, Rohrer, J D, Mead, S, Collinge, J, Rossor, M, Akay, E, Guerreiro, R, Rademakers, R, Morrison, K E, Pastor, P, Alonso, E, Martinez-Lage, P, Graff-Radford, N, Neary, D, Heutink, P, Mann, D M A, Swieten, J & Pickering-Brown, S M 2009, ' Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration ', Neurobiology of Aging, vol. 30, no. 4, pp. 656-665 . https://doi.org/10.1016/j.neurobiolaging.2009.01.009
Neurobiology of aging
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Frontotemporal lobar degeneration (FTLD) is now recognised as a common form of early onset dementia. Up to 40% of patients have a family history of disease demonstrating a large genetic component to its etiology. Linkage to chromosome 9p21 has recent
Autor:
Paul Maddison, Anna Łusakowska, M. Bertoli, Andreas Hahn, Volker Straub, Kristl G. Claeys, John Vissing, L. Xu, V. Rakocevic Stojanovic, Stojan Peric, Katherine Johnson, Monkol Lek, Ela Akay, Alexandra Bastian, L. Phillips, Daniel G. MacArthur, Ana Töpf
Publikováno v:
Neuromuscular Disorders. 26:S108-S109
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 87:e1.232-e1
Introduction NICE recommends phenytoin as second line agent for CSE, but compared with newer iv agents, there are potential problems with following treatment protocols effectively, reliably and safely. Aim To assess local adherence to NICE guidelines
Publikováno v:
Intervirology. 57(2)
Objectives: Single-nucleotide polymorphisms (SNPs) near the interleukin (IL) 28B gene encoding a type III interferon (IFN-λ) are the most important genetic predictors of treatment response to hepatitis C virus (HCV). This retrospective study was und