Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Tuba Rashid Khan"'
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizure
Externí odkaz:
https://doaj.org/article/4c84a00e3d0a40de92de53945ad6ed8d
Publikováno v:
Pediatric Neurology. 140:40-46
This retrospective chart review evaluated the clinical characteristics of SURF1-related neurological disease spectrum to better characterize the phenotypes.Patient demographics, magnetic resonance imaging abnormalities, neurological events, motor abn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1731afc7106fa1df1f8ca25a3a3c7a9
https://doi.org/10.1016/j.pediatrneurol.2022.12.002
https://doi.org/10.1016/j.pediatrneurol.2022.12.002
Publikováno v:
Neuroimmunology Reports. 1:100038
Background Anti-MOG disease typically manifests with optic neuritis and transverse myelitis. Less common manifestations are aseptic meningitis and seizures. We report a very young child with severe dystonia, a novel clinical presentation for anti-MOG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::353a1d3c1862f0c5b766332fa7f46eaf
https://doi.org/10.1016/j.nerep.2021.100038
https://doi.org/10.1016/j.nerep.2021.100038
Autor:
Jonathan Lauritsen, Kaitlin Batley, Aaron Michael McLaughlin, Jeff L. Waugh, Tuba Rashid Khan
Publikováno v:
Pediatric Neurology. 114:40-41
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c0e282350d8832b5c6ddf90929e1fc7
https://doi.org/10.1016/j.pediatrneurol.2020.09.008
https://doi.org/10.1016/j.pediatrneurol.2020.09.008
Publikováno v:
Multiple Sclerosis and Related Disorders. 50:102852
We report on a child with an early and severe manifestation of an Aquaporin-4 (AQP-4) positive Neuromyelitis Optica Spectrum Disorder (NMOSD) who had a refractory disease course despite aggressive immunotherapy and underwent autologous hematopoietic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::baaa970ef8aafea9fa24f33b1fad3773
https://doi.org/10.1016/j.msard.2021.102852
https://doi.org/10.1016/j.msard.2021.102852
Autor:
Cynthia Wang, Tuba Rashid Khan
Publikováno v:
Multiple Sclerosis and Related Disorders. 41:102030
We describe a case of an unusually early and severe manifestation of Aquaporin-4 (AQP-4) positive Neuromyelitis Optica Spectrum Disorder (NMOSD) in a two-year-old girl. We discuss learning points from her clinical presentation and highlight differenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd7c51e058c915ca50a6c2137291c197
https://doi.org/10.1016/j.msard.2020.102030
https://doi.org/10.1016/j.msard.2020.102030
Publikováno v:
Annals of Case Reports. 6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b05f863c7a91ed231cdff16353fe979e
https://doi.org/10.29011/2574-7754/100055
https://doi.org/10.29011/2574-7754/100055
Publikováno v:
Respiratory physiologyneurobiology. 156(2)
Despite the failure by many previous investigators to demonstrate a long-term facilitation of breathing following episodes of hypoxia in awake humans, we attempted to produce it using a pattern of hypercapnic hypoxic episodes similar to that experien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::310384a77102832b131d25e00629dd9a
https://pubmed.ncbi.nlm.nih.gov/17027347
https://pubmed.ncbi.nlm.nih.gov/17027347