Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Sandeep Jayawant"'
Autor:
Stefano Lise, Yvonne Clarkson, Emma Perkins, Alexandra Kwasniewska, Elham Sadighi Akha, Ricardo Parolin Schnekenberg, Daumante Suminaite, Jilly Hope, Ian Baker, Lorna Gregory, Angie Green, Chris Allan, Sarah Lamble, Sandeep Jayawant, Gerardine Quaghebeur, M Zameel Cader, Sarah Hughes, Richard J E Armstrong, Alexander Kanapin, Andrew Rimmer, Gerton Lunter, Iain Mathieson, Jean-Baptiste Cazier, David Buck, Jenny C Taylor, David Bentley, Gilean McVean, Peter Donnelly, Samantha J L Knight, Mandy Jackson, Jiannis Ragoussis, Andrea H Németh
Publikováno v:
PLoS Genetics, Vol 8, Iss 12, p e1003074 (2012)
β-III spectrin is present in the brain and is known to be important in the function of the cerebellum. Heterozygous mutations in SPTBN2, the gene encoding β-III spectrin, cause Spinocerebellar Ataxia Type 5 (SCA5), an adult-onset, slowly progressiv
Externí odkaz:
https://doaj.org/article/17f69ae6826a45c49f36daa08c4089a0
Autor:
Maria F. Finnis, Sandeep Jayawant
Publikováno v:
Autoimmune Diseases, Vol 2011 (2011)
Myasthenia gravis (MG) is an autoimmune disease in which antibodies are directed against the postsynaptic membrane of the neuromuscular junction, resulting in muscle weakness and fatigability. Juvenile myasthenia gravis (JMG) is a rare condition of c
Externí odkaz:
https://doaj.org/article/1165973b546f42468044da5554c9a8a1
Autor:
Sandeep Jayawant
Myasthenia is a rare, but underdiagnosed and sometimes life-threatening disorder in children. There are no guidelines for diagnosing and managing these children, especially those with congenital myasthenia, a more recently recognised genetic conditio
Autor:
Dora Batia Dyne Steel, Federica Rachele Danti, Mohamed Abunada, Benjamin Kamien, Sony Malhotra, Maya Topf, Marios Kaliakatsos, Jane Valentine, Andrea Hilary Nemeth, Sandeep Jayawant, Kimberley M. Reid, Kshitij Mankad, Sniya Sudhakar, Hilla Ben-Pazi, Katy Barwick, Manju A. Kurian
Publikováno v:
Neurology. 100:e2214-e2223
Background and ObjectivesBirk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants inSLC30A9presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has p
Autor:
Francesca Magrinelli, Clarissa Rocca, Roberto Simone, Riccardo Zenezini Chiozzi, Zane Jaunmuktane, Niccolò E. Mencacci, Michele Tinazzi, Sandeep Jayawant, Andrea H. Nemeth, German Demidov, Henry Houlden, Kailash P. Bhatia
Publikováno v:
Movement Disorders. 38:347-353
Heterozygous NKX2-1 loss-of-function variants cause combinations of hyperkinetic movement disorders (MDs, particularly childhood-onset chorea), pulmonary dysfunction, and hypothyroidism. Mobile element insertions (MEIs) are potential disease-causing
Autor:
Juliana Wright, John S. Elston, Geetha Anand, Sally Painter, Sandeep Jayawant, Nicholas R Jones, Sheethal Sujayeendra Kodagali, Andrea K Roalfe
Publikováno v:
Archives of Disease in Childhood. 106:590-593
AimTo report disability and visual outcomes following suspected abusive head trauma (AHT) in children under 2 years.MethodsWe present a retrospective case series (1995–2017) of children with suspected AHT aged ≤24 months. King’s Outcome Score o
Autor:
Jackie Palace, Sithara Ramdas, Ravi Knight, Pinki Munot, Sandeep Jayawant, Stephanie A. Robb, David Beeson, Angela Vincent, Pedro M. Rodríguez Cruz, Domizia Vecchio, Catherine DeVile, Matthew Pitt, Camilla Buckley, David Hilton-Jones
Publikováno v:
Neuromuscular Disorders. 30:120-127
Our aim was to identify clinical outcomes, serological features and possible prognostic indicators of paediatric myasthenia gravis (MG). We collected 74 MG patients with disease onset before the age of 16 years (73% pre-pubertal onset defined as ≤1
Publikováno v:
Abstracts.
Publikováno v:
Abstracts.
Autor:
Judith Cossins, Kathryn Selby, Eduardo de Paula Estephan, Pedro M. Rodríguez Cruz, Pinki Munot, Stephanie Robb, Jan Senderek, Francina Munell, David Beeson, Sandeep Jayawant, Michio Hirano, Sithara Ramdas, Aisling Carr, Alfons Macaya, Marina Dusl, Edmar Zanoteli, Christian de Goede, Siddharth Banka, Jacqueline Palace, Harry Fraser, Mohammad Yahya Vahidi Mehrjardi, Ana Töpf, Reza Maroofin, Abigail Sage, Hans Lochmüller, Wei Wei Liu, Umbertina Conti Reed, Adnan Y. Manzur, Ravi Knight, Monika Hofer, M. Gratacos, Gabriel Chow
Publikováno v:
Brain
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Rodríguez Cruz, P M, Cossins, J, de Paula Estephan, E, Munell, F, Selby, K, Hirano, M, Maroofin, R, Mehrjardi, M Y V, Chow, G, Carr, A, Manzur, A, Robb, S, Munot, P, Wei Liu, W, Banka, S, Fraser, H, De Goede, C, Zanoteli, E, Conti Reed, U, Sage, A, Gratacos, M, Macaya, A, Dusl, M, Senderek, J, Töpf, A, Hofer, M, Knight, R, Ramdas, S, Jayawant, S, Lochmüller, H, Palace, J & Beeson, D 2019, ' The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations ', Brain : a journal of neurology, vol. 142, no. 6, pp. 1547-1560 . https://doi.org/10.1093/brain/awz107
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Rodríguez Cruz, P M, Cossins, J, de Paula Estephan, E, Munell, F, Selby, K, Hirano, M, Maroofin, R, Mehrjardi, M Y V, Chow, G, Carr, A, Manzur, A, Robb, S, Munot, P, Wei Liu, W, Banka, S, Fraser, H, De Goede, C, Zanoteli, E, Conti Reed, U, Sage, A, Gratacos, M, Macaya, A, Dusl, M, Senderek, J, Töpf, A, Hofer, M, Knight, R, Ramdas, S, Jayawant, S, Lochmüller, H, Palace, J & Beeson, D 2019, ' The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations ', Brain : a journal of neurology, vol. 142, no. 6, pp. 1547-1560 . https://doi.org/10.1093/brain/awz107
Mutations in COL13A1 cause synaptic basal lamina-associated congenital myasthenic syndrome type 19. Rodriguez Cruz et al. describe the clinical and genetic spectrum associated with COL13A1 mutations, and the key clinical features to look out for.