Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Robin Kennett"'
Autor:
Matt Parton, Wei Wei Liu, Maryam Sedghi, Andrew M. Schaefer, Maria Elena Farrugia, Katsiaryna Belaya, Susan Maxwell, Jacqueline Palace, Hanns Lochmüller, Simon J. McGowan, Keivan Basiri, Anna Sarkozy, Wyatt W. Yue, Kate Bushby, Matthew Pitt, David Beeson, Richard E. Petty, Timothy J. Walls, Pedro M. Rodríguez Cruz, Marta Bertoli, Robin Kennett, Francesco Muntoni
Publikováno v:
Brain
Congenital myasthenic syndromes are associated with impairments in neuromuscular transmission. Belaya et al. show that mutations of the glycosylation pathway enzyme GMPPB, which has previously been implicated in muscular dystrophy dystroglycanopathy,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4caad57ca8c6d0ca5b81ac994de9e2ce
http://europepmc.org/articles/PMC4547052
http://europepmc.org/articles/PMC4547052
Autor:
Robin Kennett, Zenobia Zaiwalla, Tony McShane, Nick Wilkinson, Gerardine Quaghebeur, Elizabeth J. Soilleux, Katharine Piddington, Geetha Anand, Julie Chandra, Fang En Sin
Publikováno v:
European Journal of Paediatric Neurology. 17:429-436
Isolated paediatric neurosarcoidosis (IPN) is exceptionally rare and only seven cases have been reported so far in the literature. We report the clinical and radiological profile of a 7 year-old boy with epilepsia partialis continua (EPC) who was ini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3ddff3008a412bf686fa97742818476
https://doi.org/10.1016/j.ejpn.2013.03.005
https://doi.org/10.1016/j.ejpn.2013.03.005
Autor:
Phil Anslow, Angela Vincent, Paul M. Matthews, Matthew D. Robson, Linda Clover, David Hilton-Jones, John Newsom-Davis, Maria Elena Farrugia, Robin Kennett
A proportion of patients with myasthenia gravis (MG) without acetylcholine receptor (AChR) antibodies have antibodies to muscle-specific kinase (MuSK). MG with MuSK antibodies (MuSK-MG) is often associated with persistent bulbar involvement, includin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a24cfdf4de6384af2ff83ff034a40275
https://doi.org/10.1093/brain/awl095
https://doi.org/10.1093/brain/awl095
Autor:
Jacqueline Palace, Sandeep Jayawant, Susan Maxwell, Robin Kennett, D Lashley, John Newsom-Davis, Yuji Yamanashi, David Beeson, Judy Cossins
Mutations in DOK7 have recently been shown to underlie a recessive congenital myasthenic syndrome (CMS) associated with small simplified neuromuscular junctions ('synaptopathy') but normal acetylcholine receptor and acetylcholinesterase function. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f83eecf036d82e526853a85939e012a
https://doi.org/10.1093/brain/awm072
https://doi.org/10.1093/brain/awm072
Autor:
Maryam Sedghi, Robin Kennett, David Beeson, Richard E. Petty, Francesco Muntoni, Janice L. Holton, Hanns Lochmüller, Susan Maxwell, Anna Sarkozy, Timothy J. Walls, Jacqueline Palace, Keivan Basiri, Matthew Pitt, Pedro M. Rodríguez Cruz, Maria Elena Farrugia, Matt Parton, Wei Wei Liu, Katsiaryna Belaya
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry. 87
Background Congenital myasthenic syndrome (CMS) due to mutations in GMPPB has recently been reported confirming the importance of glycosylation for the integrity of neuromuscular transmission. Methods Review of case notes of patients with mutations i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc88a6cd9d9953cf8fdcc72c61c694ea
http://ora.ox.ac.uk/objects/uuid:90bf07db-e053-4e91-bfcd-cf6c56e5d24d
http://ora.ox.ac.uk/objects/uuid:90bf07db-e053-4e91-bfcd-cf6c56e5d24d
Publikováno v:
Muscle & Nerve. 39:489-493
In a retrospective study of 86 patients with myasthenia gravis (MG), we correlated the acetylcholine receptor (AChR) antibody titers with single-fiber EMG studies to explore whether a relationship exists between these parameters. We found that the AC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eab1baf8423063019253333f907138e4
https://doi.org/10.1002/mus.21156
https://doi.org/10.1002/mus.21156
Autor:
Robin Kennett, Maria Elena Farrugia
Publikováno v:
Clinical Neurophysiology. 116:2550-2559
Objective The aim of the study was to determine whether ‘clouds’ from turns amplitude analysis obtained from the orbicularis oculi and oris muscles without force monitoring can be used to differentiate pathological processes affecting the face. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc733f48259d8abf5b0a99651075bc7d
https://doi.org/10.1016/j.clinph.2005.07.018
https://doi.org/10.1016/j.clinph.2005.07.018
Autor:
Michael Donaghy, Robin Kennett
Publikováno v:
Journal of Neurology. 246:552-555
A white British family with the axonal form of hereditary motor and sensory neuropathy (HMSN, type II) contained one member who developed a recurrent laryngeal nerve palsy at the age of 41 years, in addition to 4 years of symptomatic polyneuropathy a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15044ebbd18a007f8329ddea6116f87c
https://doi.org/10.1007/s004150050402
https://doi.org/10.1007/s004150050402
Autor:
Louisa Kent, Robin Kennett, Sunil Wimalaratna, Paul T. G. Davies, Martin R Turner, Richard S. C. Kerr, Kevin Talbot
Publikováno v:
Journal of neurology. 260(4)
A 65 year old female was treated with Onyx embolisation of a superior cerebellar aneurysm for subarachnoid haemorrhage, resulting in mild residual left leg spasticity, but independent mobility. Eight years later, her left ankle started to turn inward
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d521b59b8daf0b440b4139d9ddb6e98
http://ora.ox.ac.uk/objects/uuid:c98450b1-b10c-464b-92d9-6289b1f5c8f2
http://ora.ox.ac.uk/objects/uuid:c98450b1-b10c-464b-92d9-6289b1f5c8f2
Autor:
Angela Vincent, Saiju Jacob, Robin Kennett, Stuart Viegas, Judy Cossins, Richard Webster, David Hilton-Jones, Maria Isabel Leite, Bryan Paul Morgan
Publikováno v:
Archives of neurology. 69(8)
BACKGROUND: Clustered acetylcholine receptor antibodies (clustered AChR-Abs) have been detected in a proportion of patients with previously "seronegative" (SN) generalized myasthenia gravis (GMG), but their presence in patients with ocular MG (OMG) a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::587bcc32cca0c8ce3194fbd00868f042
http://ora.ox.ac.uk/objects/uuid:aa3ba4cf-96db-477f-a690-559cb116ac66
http://ora.ox.ac.uk/objects/uuid:aa3ba4cf-96db-477f-a690-559cb116ac66