Výsledky vyhledávání - "Josiah Y H, Chai"

Akademický článek

Acute to Subacute Atraumatic Entrapment Neuropathies in Patients With CMT1A: A Report of a Distinct Phenotypic Variant of CMT1A

Autor: Zhiyong Chen, Monica Saini, Shermyn X. M. Neo, Peng-Soon Ng, Jasmine S. Koh, Kalpana Prasad, Kamal Verma, Sonia Davila, Weng Khong Lim, Ziqun Phua, Michelle M. Li, Corrine Kang, Karine S. S. Tay, Josiah Y. H. Chai

Publikováno v: Frontiers in Neurology, Vol 13 (2022)

Charcot-Marie-Tooth type 1A (CMT1A) is typically characterised as a childhood-onset, symmetrical, length-dependent polyneuropathy with a gradual progressive clinical course. Acute to subacute neurological deterioration in CMT1A is rare, and has been

Externí odkaz: https://doaj.org/article/122ed859f02f48209083cb190856b4b9

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Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related

Autor: Zhiyong, Chen, Monica, Saini, Jasmine S, Koh, Kalpana, Prasad, Swee Hoon, Koh, Karine S S, Tay, Ming, Lee, Yi Jayne, Tan, Adeline S L, Ng, Stacey Kiat Hong, Tay, Kong Bing, Tan, Ankit, Tandon, Jeane M M, Tan, Josiah Y H, Chai

Publikováno v: Journal of Neuromuscular Diseases. 10:91-106

Aim: We describe a cohort of five patients with limb-girdle muscular dystrophy (LGMD) 2G/LGMD-R7 in a South-east Asian cohort. Background: LGMD2G/LGMD-R7-telethonin-related is caused by mutations in the TCAP gene that encodes for telethonin. Methods:

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d40ff6ceedd6b09b9014b46e52ceb028
https://doi.org/10.3233/jnd-221517

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Hereditary Transthyretin Amyloidosis- Clinical and Genetic Characteristics of a Multiracial South-East Asian Cohort in Singapore

Autor: Chen Yu, Karine S S Tay, Chai Beng Tan, Peck Kee Lim, A R Juraidah, Kalpana Prasad, Adeline S.L. Ng, Ming Hui Yong, Thirugnanam Umapathi, Jasmine Shimin Koh, Zhiyong Chen, Su Rong Fam, Monica Saini, Yi Jayne Tan, Josiah Y H Chai, Peng Soon Ng, Kamal Verma

Publikováno v: Journal of neuromuscular diseases. 8(4)

Background and aims: Studies of hereditary transthyretin amyloidosis (ATTRv amyloidosis) in South-East Asia are underrepresented in the literature. We report the unique phenotypic and genetic characteristics of this disorder in a multiracial South-Ea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bfe85b135fb3a9deef8af1b55e4e988
https://pubmed.ncbi.nlm.nih.gov/34024775

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