Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Manju A. Kurian"'
Autor:
Belén Pérez‐Dueñas, Kathleen Gorman, Anna Marcé‐Grau, Juan D. Ortigoza‐Escobar, Alfons Macaya, Federica R. Danti, Katy Barwick, Apostolos Papandreou, Joanne Ng, Esther Meyer, Shekeeb S. Mohammad, Martin Smith, Francesco Muntoni, Pinki Munot, Johanna Uusimaa, Päivi Vieira, Eammon Sheridan, Renzo Guerrini, Jan Cobben, Sanem Yilmaz, Elisa De Grandis, Russell C. Dale, Roser Pons, Kathryn J. Peall, Vincenzo Leuzzi, Manju A. Kurian
Publikováno v:
Scientia
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Background and Objective: The objective of this study was to better delineate the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders. Methods: Patients were recruited from 14 internat
Autor:
Apostolos, Papandreou, Ivan, Doykov, Justyna, Spiewak, Nikita, Komarov, Stephanie, Habermann, Manju A, Kurian, Philippa B, Mills, Kevin, Mills, Paul, Gissen, Wendy E, Heywood
Publikováno v:
Developmental Medicine & Child Neurology. 64:1539-1546
Using Niemann-Pick type C disease (NPC) as a paradigm, we aimed to improve biomarker discovery in patients with neurometabolic disorders.Using a multiplexed liquid chromatography tandem mass spectrometry dried bloodspot assay, we developed a selectiv
Publikováno v:
Developmental Medicine & Child Neurology. 63:925-933
Increasingly effective targeted precision medicine is either already available or in development for a number of genetic childhood movement disorders. Patient-centred, personalized approaches include the repurposing of existing treatments for specifi
Autor:
Bianca R. Grosz, Stephen Tisch, Michel C. Tchan, Victor S. C. Fung, Paul Darveniza, Avi Fellner, Manju A. Kurian, Alison McLean, Susan E. Tomlinson, Renee Smyth, Sophie Devery, Kathy H. C. Wu, Marina L. Kennerson, Kishore R. Kumar
Publikováno v:
Molecular Genetics & Genomic Medicine. 10
Heterozygous KMT2B variants are a common cause of dystonia. A novel synonymous KMT2B variant, c.5073CT (p.Gly1691=) was identified in an individual with childhood-onset progressive dystonia.The splicing impact of c.5073CT was assessed using an in vit
Autor:
Manju A. Kurian, Dora Steel, Francesco Muntoni, Sniya Sudhakar, Richard H Scott, Lucinda Carr, Kshitij Mankad, Alison Male, Tarishi Nemani, Marios Kaliakatsos, Athina Ververi, Spas Getov, Mary M. Reilly, Pinki Munot, Catherine DeVile
Publikováno v:
Journal of the Peripheral Nervous System. 25:117-124
KIF1A-related disorders (KRD) were first described in 2011 and the phenotypic spectrum has subsequently expanded to encompass a range of central and peripheral nervous system involvement. Here we present a case series demonstrating the range of clini
Autor:
Flavia Trettel, Cristina Roseti, Rosalba Carrozzo, Teresa Rizza, Susanna Cogo, Anna Rita Bentivoglio, Claudia Carducci, Cristina Limatola, Alice Traversa, Gianfranco Bocchinfuso, Martina Venditti, Laura Civiero, Michela Di Nottia, Viviana Caputo, Eleonora Palma, Miriam Sciaccaluga, Ambra Lanzo, Maria Paglione, Luca Pannone, Manju A. Kurian, Serena Galosi, Simone Martinelli, Vincenzo Leuzzi, Lorenzo Stella, A Farrotti, Sergio Fucile, Laura Bernardini, Viviana Cordeddu, Joanne Ng, Marco Tartaglia, Elia Di Schiavi, Elisa Greggio, Andrea Ciolfi
Publikováno v:
Parkinsonism & related disorders 72 (2020): 75–79. doi:10.1016/j.parkreldis.2020.02.003
info:cnr-pdr/source/autori:Martinelli, Simone; Cordeddu, Viviana; Galosi, Serena; Lanzo, Ambra; Palma, Eleonora; Pannone, Luca; Ciolfi, Andrea; Di Nottia, Michela; Rizza, Teresa; Bocchinfuso, Gianfranco; Traversa, Alice; Caputo, Viviana; Farrotti, Andrea; Carducci, Claudia; Bernardini, Laura; Cogo, Susanna; Paglione, Maria; Venditti, Martina; Bentivoglio, Annarita; Ng, Joanne; Kurian, Manju A.; Civiero, Laura; Greggio, Elisa; Stella, Lorenzo; Trettel, Flavia; Sciaccaluga, Miriam; Roseti, Cristina; Carrozzo, Rosalba; Fucile, Sergio; Limatola, Cristina; Di Schiavi, Elia; Tartaglia, Marco; Leuzzi, Vincenzo/titolo:Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism/doi:10.1016%2Fj.parkreldis.2020.02.003/rivista:Parkinsonism & related disorders/anno:2020/pagina_da:75/pagina_a:79/intervallo_pagine:75–79/volume:72
info:cnr-pdr/source/autori:Martinelli, Simone; Cordeddu, Viviana; Galosi, Serena; Lanzo, Ambra; Palma, Eleonora; Pannone, Luca; Ciolfi, Andrea; Di Nottia, Michela; Rizza, Teresa; Bocchinfuso, Gianfranco; Traversa, Alice; Caputo, Viviana; Farrotti, Andrea; Carducci, Claudia; Bernardini, Laura; Cogo, Susanna; Paglione, Maria; Venditti, Martina; Bentivoglio, Annarita; Ng, Joanne; Kurian, Manju A.; Civiero, Laura; Greggio, Elisa; Stella, Lorenzo; Trettel, Flavia; Sciaccaluga, Miriam; Roseti, Cristina; Carrozzo, Rosalba; Fucile, Sergio; Limatola, Cristina; Di Schiavi, Elia; Tartaglia, Marco; Leuzzi, Vincenzo/titolo:Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism/doi:10.1016%2Fj.parkreldis.2020.02.003/rivista:Parkinsonism & related disorders/anno:2020/pagina_da:75/pagina_a:79/intervallo_pagine:75–79/volume:72
Objective To investigate the molecular cause(s) underlying a severe form of infantile-onset parkinsonism and characterize functionally the identified variants. Methods A trio-based whole exome sequencing (WES) approach was used to identify the candid
Autor:
Manju A Kurian, Rosemary Burgess, Yue-Hua Zhang, Shuyu Wang, Heather C. Mefford, Katja E. Boysen, Lynette G. Sadleir, Xiaoling Yang, Marina Trivisano, Amy McTague, Qi Zeng, Ingrid E. Scheffer, Renzo Guerrini, Nicola Specchio, Anne Rochtus, Annapurna Poduri, Deepak Gill, Kenneth A. Myers, Carla Marini
Publikováno v:
Ann Neurol
Objective Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe developmental and epileptic encephalopathies. We delineate the genetic causes and genotype-phenotype correlations of a large EIMFS cohort. Methods Phenotypi
Autor:
Stacey Tay Kiat Hong, Georg F. Hoffmann, Angeles Garcia-Cazorla, Suet-Na Wong, Jan Kulhánek, Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Yilmaz Yildiz, Mari Oppebøen, Kathrin Jeltsch, Francesca Manzoni, H. Serap Sivri, Alberto Burlina, Saadet Mercimek-Andrews, Elisenda Cortès-Saladelafont, Dimitrios I. Zafeiriou, Sven F. Garbade, Thomas Opladen, Pablo Mir, Jennifer Friedman, Vincenzo Leuzzi, Joaquín Alejandro Fernández Ramos, Mario Mastrangelo, Eduardo López-Laso, Jeanette Koht, Dora Steel, Toni S. Pearson, Natalia Alexandra Julia Palacios, Filippo Manti, Thomas Lücke, Tomas Honzik, Jesus Serrano-Lomelin, Galina Stevanović, Ivana Kavecan, Cheuk-Wing Fung, Manju A. Kurian, Roser Pons, Helly Goez
Publikováno v:
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Digital.CSIC. Repositorio Institucional del CSIC
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Digital.CSIC. Repositorio Institucional del CSIC
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors and result in various degrees of delayed or impaired psychomotor deve
Autor:
Stéphanie Chhun, Yanick J. Crow, Henna Tyynismaa, Bert Callewaert, Gillian I. Rice, Manju A Kurian, Christine Bodemer, Edwin Carter, Lien De Somer, Luis Seabra, Simon Holden, Hugh J. McMillan, Brigitte Bader-Meunier, Kristin Suetens, Timothy Wai, Lucy Grove, Sylvie Fraitag, Erika Della Mina, Ashish Dhir, Fran Faes, Marie Hully, Mathieu P Rodero, Pascale de Lonlay, Marie-Louise Frémond, Alice Lepelley, Daniela Buhas, David A. Dyment, Carine Wouters, Erika Van Nieuwenhove, Lise Waumans
Publikováno v:
Lepelley, A, Mina, E D, Nieuwenhove, E V, Waumans, L, Fraitag, S, Rice, G I, Dhir, A, Frémond, M-L, Rodero, M P, Seabra, L, Carter, E, Bodemer, C, Buhas, D, Callewaert, B, Lonlay, P D, Somer, L D, Dyment, D A, Faes, F, Grove, L, Holden, S, Hully, M, Kurian, M A, McMillan, H J, Suetens, K, Tyynismaa, H, Chhun, S, Wai, T, Wouters, C, Bader-Meunier, B & Crow, Y J 2021, ' Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A ', Journal of Experimental Medicine, vol. 218, no. 10, e20201560 . https://doi.org/10.1084/jem.20201560
Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2021, 218 (10), pp.e20201560. ⟨10.1084/jem.20201560⟩
Journal of Experimental Medicine, 2021, 218 (10), pp.e20201560. ⟨10.1084/jem.20201560⟩
Lepelley, A, Della Mina, E, Van Nieuwenhove, E, Waumans, L, Fraitag, S, Rice, G I, Dhir, A, Frémond, M-L, Rodero, M P, Seabra, L, Carter, E, Bodemer, C, Buhas, D, Callewaert, B, de Lonlay, P, De Somer, L, Dyment, D A, Faes, F, Grove, L, Holden, S, Hully, M, Kurian, M A, McMillan, H J, Suetens, K, Tyynismaa, H, Chhun, S, Wai, T, Wouters, C, Bader-Meunier, B & Crow, Y J 2021, ' Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A ', Journal of Experimental Medicine . https://doi.org/10.1084/jem.20201560
JOURNAL OF EXPERIMENTAL MEDICINE
Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2021, 218 (10), pp.e20201560. ⟨10.1084/jem.20201560⟩
Journal of Experimental Medicine, 2021, 218 (10), pp.e20201560. ⟨10.1084/jem.20201560⟩
Lepelley, A, Della Mina, E, Van Nieuwenhove, E, Waumans, L, Fraitag, S, Rice, G I, Dhir, A, Frémond, M-L, Rodero, M P, Seabra, L, Carter, E, Bodemer, C, Buhas, D, Callewaert, B, de Lonlay, P, De Somer, L, Dyment, D A, Faes, F, Grove, L, Holden, S, Hully, M, Kurian, M A, McMillan, H J, Suetens, K, Tyynismaa, H, Chhun, S, Wai, T, Wouters, C, Bader-Meunier, B & Crow, Y J 2021, ' Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A ', Journal of Experimental Medicine . https://doi.org/10.1084/jem.20201560
JOURNAL OF EXPERIMENTAL MEDICINE
Mitochondrial DNA (mtDNA) has been suggested to drive immune system activation, but the induction of interferon signaling by mtDNA has not been demonstrated in a Mendelian mitochondrial disease. We initially ascertained two patients, one with a purel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::535a86644148a93958b751d60959fb97
https://pure.manchester.ac.uk/ws/files/211719510/jem_20201560.pdf
https://pure.manchester.ac.uk/ws/files/211719510/jem_20201560.pdf
Autor:
D. Munoz, Maria Stamelou, Manju A Kurian, Ignacio Juan Keller Sarmiento, Steven J. Lubbe, Jerry Hsu, Dora Steel, Mónica Troncoso Schifferli, Francesca Magrinelli, Niccolo E. Mencacci, Leonidas Stefanis, Nicholas W. Wood
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 36(6)