Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Kathryn Urankar"'
Publikováno v:
Clin Med (Lond)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4f8b6a1a62cbc2fa5de602a12ef379d
https://doi.org/10.7861/clinmed.2022-0263
https://doi.org/10.7861/clinmed.2022-0263
Autor:
Shelley Renowden, Stefania Kaninia, Kathryn Urankar, Claire M Rice, Alexandros Grammatikos, Mark Gompels, Nikunj K. Patel
Publikováno v:
Multiple Sclerosis (Houndmills, Basingstoke, England)
Kaninia, S, Grammatikos, A, Urankar, K, Renowden, S, Patel, N, Gompels, M & Rice, C M 2021, ' CNS demyelination associated with immune dysregulation and a novel CTLA-4 variant ', Multiple Sclerosis Journal, vol. 27, no. 9, pp. 1464-1467 . https://doi.org/10.1177/1352458520963896
Kaninia, S, Grammatikos, A, Urankar, K, Renowden, S, Patel, N, Gompels, M & Rice, C M 2021, ' CNS demyelination associated with immune dysregulation and a novel CTLA-4 variant ', Multiple Sclerosis Journal, vol. 27, no. 9, pp. 1464-1467 . https://doi.org/10.1177/1352458520963896
Background: The cytotoxic T-lymphocyte antigen-4 (CTLA-4) pathway acts as a negative immune regulator of T-cell activation and promotes self-tolerance. Case: We report the first case of biopsy-proven central nervous system inflammatory demyelination
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::601d9dd13b25fabc9c4762ec0dc09a74
https://doi.org/10.1177/1352458520963896
https://doi.org/10.1177/1352458520963896
Autor:
Silvia Beatriz Sanchez-Marco, Germaine Pierre, Peta Sharples, Seth Love, Kathryn Urankar, Tom Hilliard, Peter Lunt, Amanda Churchill, Riyaad Aungraheeta, Anthony Dallosso, Julie Evans, Maggie Williams, Anirban Majumdar
Publikováno v:
Journal of Pediatric Neurology.
We describe the clinical, muscle and nerve biopsy, and genetic findings in a 10-year-old girl with a profound and rapid global regression. She presented during neonatal period with hypotonia, followed by weakness in the facial, bulbar, respiratory, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::08282681596e95d677f459d7e526c167
https://doi.org/10.1055/s-0042-1749671
https://doi.org/10.1055/s-0042-1749671
Autor:
Richard D.C. Moon, Kathryn Urankar, Paul Smith, William G B Singleton, Alison Evans, Adam Williams
Publikováno v:
World Neurosurgery. 145:416-425
Background Tumor metastasis to the pituitary is rare, most commonly reported with either breast or lung cancer metastasizing to the neurohypophysis. Pituitary metastases of renal cell carcinoma (RCC) are by contrast infrequently described even within
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20575efddfbdde1b6ca8644fa5e0e222
https://doi.org/10.1016/j.wneu.2020.08.218
https://doi.org/10.1016/j.wneu.2020.08.218
Publikováno v:
Neuromuscular Disorders. 30:241-245
Pathogenic variants in LPIN1 are a recognised cause of severe and often fatal rhabdomyolysis in childhood. We present a rare case of adult onset recurrent rhabdomyolysis due to compound heterozygous variants in LPIN1. Despite first presenting with rh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f7c84170ff3874994a3159fee93fdd0
https://doi.org/10.1016/j.nmd.2020.01.004
https://doi.org/10.1016/j.nmd.2020.01.004
Autor:
Anirban Majumdar, Germaine Pierre, Kathryn Urankar, Shpresa Pula, Kayal Vijayakumar, Simon Langton-Hewer, Victoria Selby, Faye Mason, A. Norman, Robert W. Taylor, Robert McFarland
Publikováno v:
Neuromuscular Disorders. 30:159-164
We describe the presentation and follow-up of a three-year-old girl with nemaline myopathy due to a de-novo variant in ACTA1 (encoding skeletal alpha actin) and moderately low enzyme level of Complex I of the mitochondrial respiratory chain. She pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3b1bec00dc82bd33eec7d5a902a7cfa6
https://doi.org/10.1016/j.nmd.2019.11.014
https://doi.org/10.1016/j.nmd.2019.11.014
Autor:
Anna G Francis, Michaela Boca, Kathryn Urankar, Anthony Cox, Philip Clatworthy, Claire M Rice
Publikováno v:
Francis, A G, Boca, M, Urankar, K, Cox, A, Clatworthy, P L & Rice, C M 2021, ' Leukoencephalopathy with calcifications and cysts associated with SNORD118 variants ', Neurology, vol. 97, pp. 694-695 . https://doi.org/10.1212/WNL.0000000000012635
A 67-year-old woman presented with gradually progressive gait impairment. Examination revealed left third nerve palsy, ataxia, and lower limb spasticity. Twenty-four years previously, hydrocephalus and multifocal cerebral cysts necessitated ventricul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad3c8954e0f0610db7a93b15fc2b4e77
https://research-information.bris.ac.uk/ws/files/280435644/NEUROLOGY_2021_172832v2_Francis.pdf
https://research-information.bris.ac.uk/ws/files/280435644/NEUROLOGY_2021_172832v2_Francis.pdf
Autor:
Anna G, Francis, Mihaela, Boca, Kathryn, Urankar, Anthony, Cox, Philip, Clatworthy, Claire, Rice
Publikováno v:
Neurology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b1ca77f4026b58d197e4a6bf77a478a6
https://pubmed.ncbi.nlm.nih.gov/34380746
https://pubmed.ncbi.nlm.nih.gov/34380746
Autor:
Rhea Yy Tan, Hugh S. Markus, Kathryn Urankar, Clare Bailey, Stefan Gräf, Anna M. Drazyk, Nicola Giffin
Publikováno v:
Practical neurology. 21(5)
A 44-year-old Caucasian man presented with seizures and cognitive impairment. He had marked retinal drusen, and MR brain scan showed features of cerebral small vessel disease; he was diagnosed with a leukoencephalopathy of uncertain cause. He died at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2402d93002e0c5334c8c27fbef63b10c
https://pubmed.ncbi.nlm.nih.gov/34433685
https://pubmed.ncbi.nlm.nih.gov/34433685
Autor:
Stephen Jones, Charlotte Loh, Anirban Majumdar, Agyepong Oware, Kathryn Urankar, Marie Monaghan, Marion Roderick
Publikováno v:
Journal of neuromuscular diseases. 8(6)
Here, we describe a five year old girl with congenital HIV who had a six-week onset of rapidly deteriorating mobility and progressive proximal muscle weakness, associated with a raised Creatine Kinase (CK) level of 4330 U/L [25–200 U/L], subsequent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abb3046e128363fa43e20ed598f27dda
https://pubmed.ncbi.nlm.nih.gov/34151853
https://pubmed.ncbi.nlm.nih.gov/34151853