Zobrazeno 1 - 10
of 114
pro vyhledávání: '"Antonia Clarke"'
Publikováno v:
BMJ Neurology Open, Vol 3, Iss Suppl 1 (2021)
Externí odkaz:
https://doaj.org/article/7a53a91758ca4ba3896d99852146b864
Autor:
Pratik Shah, Antonia Clarke, I C Lloyd, John Short, Sharon Ocansey, Patricia Atkinson, Albanese Assunta, Meriel McEntagart, Medard Hadonou, Charlene Crosby, Debbie Pullen, Damian Smedley
Publikováno v:
Clinical Dysmorphology. 31:11-17
DNAJC3, a co-chaperone of BiP, is a member of the heat shock protein family. These proteins are produced in the endoplasmic reticulum (ER) to counter cell stress resulting from healthy functional protein processing. Dysregulation of unfolded proteins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7c193dc67ef51bc823353b05e45a8ba
https://doi.org/10.1097/mcd.0000000000000397
https://doi.org/10.1097/mcd.0000000000000397
Publikováno v:
BMJ Neurology Open, Vol 3, Iss Suppl 1 (2021)
Objective We report the case of a 34-year-old female diagnosed concurrently with idiopathic intracranial hypertension (IIH) and aplastic anaemia. Case A 34-year-old female with recent weight gain presented with headache and fatigue. Clinical examinat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94e633526623999df5d529e35aa24ddd
https://doaj.org/article/7a53a91758ca4ba3896d99852146b864
https://doaj.org/article/7a53a91758ca4ba3896d99852146b864
Autor:
Maria Kinali, Ursula Knirsch, Georg M. Stettner, M. Fernandez-Garcia, Antonia Clarke, Elizabeth Wraige, Heinz Jungbluth, Penny Fallon
Publikováno v:
Neuromuscular disorders : NMD. 31(2)
Inherited neuropathies are amongst the most common neuromuscular disorders. The distinction from chronic inflammatory demyelinating polyneuropathy (CIDP) may be challenging, considering its rarity in childhood, that genetic neuropathies may show seco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6a19f5f4764badeced48c78064d60bc
https://pubmed.ncbi.nlm.nih.gov/33386210
https://pubmed.ncbi.nlm.nih.gov/33386210
Autor:
Yanick J. Crow, Jeremy Armishaw, Leslie R. Bridges, Anirudh Patir, Barry W. McColl, Colin Smith, Jack Barrington, Antonia Clarke, Vivienne Hobbs, Iona Jeffrey, Luis Seabra, Jenny Eaton, Mathieu P Rodero, John H. Livingston, Melinda Nolan, Gillian I. Rice, Sahar Mansour, Carolina Uggenti
Publikováno v:
Smith, C, McColl, B W, Patir, A, Barrington, J, Armishaw, J, Clarke, A, Eaton, J, Hobbs, V, Mansour, S, Nolan, M, Rice, G I, Rodero, M P, Seabra, L, Uggenti, C, Livingston, J H, Bridges, L R, Jeffrey, I J M & Crow, Y J 2020, ' Biallelic mutations in NRROS cause an early onset lethal microgliopathy ', Acta Neuropathologica, vol. 139, no. 5, pp. 947-951 . https://doi.org/10.1007/s00401-020-02137-7
Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2020, 139 (5), pp.947-951. ⟨10.1007/S00401-020-02137-7⟩
Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2020, 139 (5), pp.947-951. ⟨10.1007/S00401-020-02137-7⟩
Microglia are tissue-resident macrophages playing essential roles in central nervous system (CNS) development and homeostasis [14, 17]. The importance of microglia for brain health in humans has been highlighted by the definition of Mendelian disorde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2431d522bacf81742f98b428581a5fbe
https://hdl.handle.net/20.500.11820/36aefe29-f44f-4d0d-81bf-0d32e6f14731
https://hdl.handle.net/20.500.11820/36aefe29-f44f-4d0d-81bf-0d32e6f14731
Publikováno v:
European Journal of Paediatric Neurology. 22:1161-1164
Glucose transporter type 1 (GLUT1) deficiency syndrome is a well recognised genetic neurometabolic disorder typically presenting with progressive encephalopathy, acquired microcephaly and drug-resistant epilepsy. Imaging is normal in the majority. He
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63f2dd3521efaab836689e018d630889
https://doi.org/10.1016/j.ejpn.2018.02.002
https://doi.org/10.1016/j.ejpn.2018.02.002
Publikováno v:
European Journal of Paediatric Neurology. 20:948-952
Background Acute flaccid weakness may be the first presentation of acute transverse myelitis (ATM), an immune-mediated central nervous system disorder or may be the first presentation of anterior horn cell syndrome or peripheral nervous system diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::644c72e9d7680fa3382e9092f4265470
https://doi.org/10.1016/j.ejpn.2016.07.008
https://doi.org/10.1016/j.ejpn.2016.07.008
Publikováno v:
The Lancet Neurology. 19:716
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cb2de5f944becb4cb469120db99d706
https://doi.org/10.1016/s1474-4422(20)30280-5
https://doi.org/10.1016/s1474-4422(20)30280-5
Autor:
Penny Fallon, Antonia Clarke, M. Fernandez-Garcia, Heinz Jungbluth, Maria Kinali, Elizabeth Wraige, V. Gowda
Publikováno v:
Neuromuscular Disorders. 29:S201-S202
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7b8527eebf61a743b79e51acea79e8c1
https://doi.org/10.1016/j.nmd.2019.06.574
https://doi.org/10.1016/j.nmd.2019.06.574
Autor:
Michael G. Hanna, Antonia Clarke, Heinz Jungbluth, S. Veronica Tan, Rahul R. Singh, Stephanie A. Robb
Publikováno v:
Pediatrics. 134:e1447-e1450
Laryngospasm is a rare but potentially life-threatening occurrence in infants and usually has infective, allergic, metabolic, or anatomic causes. Underlying genetic conditions are rarely considered. Mutations in SCN4A encoding the voltage-gated sodiu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12499aa6ec40c911ee682ae54c35f92e
https://doi.org/10.1542/peds.2013-3727
https://doi.org/10.1542/peds.2013-3727