Zobrazeno 1 - 10
of 17
pro vyhledávání: '"May Yung Tiet"'
Autor:
May Yung Tiet, Daniel J Scoffings, Caroline Blanchard, Robert A Dineen, Rita Horvath, Anke E Hensiek
Ataxia-Telangiectasia (A-T) is a very rare autosomal recessive disease characterised by cerebellar ataxia, extrapyramidal movements and cancer predisposition. Delayed diagnosis is common due to clinical heterogeneity. The development of clinical tria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::236b68527a1a4e8404ad44fe641fc3fc
https://doi.org/10.21203/rs.3.rs-2842224/v1
https://doi.org/10.21203/rs.3.rs-2842224/v1
Ataxia-Telangiectasia (A-T) is an autosomal recessive neurodegenerative disease associated with cerebellar ataxia and extrapyramidal features. A-T has a complex and diverse phenotype with varying rates of disease progression. The development of robus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ae4015d9bf0e30a1011bef93a68113e
https://www.repository.cam.ac.uk/handle/1810/346690
https://www.repository.cam.ac.uk/handle/1810/346690
Publikováno v:
Journal of Neuromuscular Diseases
Background: Leigh syndrome (LS) is the most frequent paediatric clinical presentation of mitochondrial disease. The clinical phenotype of LS is highly heterogeneous. Though historically the treatment for LS is largely supportive, new treatments are o
Publikováno v:
Neuromuscular Disorders. 31:978-987
Primary mitochondrial myopathies are genetic metabolic disorders of mitochondrial dysfunction affecting mainly, but not exclusively, skeletal muscle. Although individually rare, they are the most common inherited metabolic disorders in childhood. The
Autor:
Daniel Scoffings, Anke Hensiek, Hugh S. Markus, Rita Horvath, Katherine Schon, Stefania Nannoni, May Yung Tiet
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Background and Objectives: To systematically assess the occurrence of cerebral microbleeds (CMBs) and white matter hyperintensities (WMHs) in the largest published cohort of adults with ataxia-telangiectasia (AT). Methods: We assessed 38 adults with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c8f067b78116f4b04a9f18d55b697b3
https://www.repository.cam.ac.uk/handle/1810/333081
https://www.repository.cam.ac.uk/handle/1810/333081
Autor:
May Yung Tiet, Daniel Scoffings, Caroline Blanchard, Robert Dineen, Horvath Rita, Anke Hensiek
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 93:e2.54
BackgroundAtaxia-Telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. Classic AT has a characteristic neurological phenotype but variant AT has a variable presentation leading to diagnostic delay. Early diagnosis is essential for
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 93:e2.233
BackgroundCognitive function in Ataxia telangiectasia (AT) has been reported in few studies. The cer- ebellum is increasingly recognised as a pivotal structure in cognition and Cerebellar Cognitive Affective Syndrome (CCAS) has been observed in AT. H
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 93:A97.2-A97
BackgroundIsolated reports indicate the presence of MRI T2 white matter hyperintensities (WMH) and brain microbleeds (BMB) in ataxia telangiectasia (AT), but this has not previously been assessed in a sys- tematic way. We report the MRI brain finding
Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and other systemic complications. Patients with variant ataxia telangiectasia—
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2666c3980b3d3dfe4efb09f634939ed
https://www.repository.cam.ac.uk/handle/1810/304603
https://www.repository.cam.ac.uk/handle/1810/304603
Autor:
Nazar AlShaikh, May Yung Tiet
Publikováno v:
BMJ Case Reports
Originating from Wuhan, China, COVID-19 has rapidly spread worldwide. Neurological manifestations are more commonly associated with severe COVID-19 infection. Guillain-Barré syndrome (GBS) is a rare immune-mediated postinfectious neuropathy. It has