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Source: Journal of Clinical Neurology
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Total 245 results found since Jan 2013.
Nemaline Rod/Cap Myopathy Due to Novel Homozygous < em > MYPN < /em > Mutations: The First Report from South Asia and Comprehensive Literature Review
CONCLUSIONS: This study elaborates on two patients with homozygous MYPN pathogenic variants, presenting as slowly progressive congenital myopathy. These patients are only the tenth and eleventh cases reported in the English literature, and the first from South Asia. The clinical phenotype reiterates the mild form of nemaline rod/cap myopathy. A comprehensive literature review is presented.PMID:34184449 | PMC:PMC8242322 | DOI:10.3988/jcn.2021.17.3.409
Source: Journal of Clinical Neurology - June 29, 2021 Category: Neurology Authors: Kiran Polavarapu Mainak Bardhan Ram Murthy Anjanappa Seena Vengalil Veeramani Preethish-Kumar Leena Shingavi Tanushree Chawla Saraswati Nashi Dhaarini Mohan Gautham Arunachal Thenral S Geetha Vedam Ramprasad Atchayaram Nalini Source Type: research
Erratum to: Progression of GNE Myopathy Based on the Patient-Reported Outcome.
Authors: Park YE, Kim DS, Choi YC, Shin JH
Abstract
This corrects the article on p. 275 in vol. 15, PMID: 31286697.
PMID: 32657081 [PubMed - in process]
Source: Journal of Clinical Neurology - July 15, 2020 Category: Neurology Tags: J Clin Neurol Source Type: research
Progression of GNE Myopathy Based on the Patient-Reported Outcome.
CONCLUSIONS: The reported data can guide the clinical management of GNE myopathy, as well as provide perspective to help the development of clinical trials.
PMID: 31286697 [PubMed]
Source: Journal of Clinical Neurology - July 10, 2019 Category: Neurology Tags: J Clin Neurol Source Type: research
GNE Myopathy with Prominent Axial Muscle Involvement.
Authors: Park JM, Shin JH, Park JS
PMID: 30198236 [PubMed - as supplied by publisher]
Source: Journal of Clinical Neurology - September 11, 2018 Category: Neurology Tags: J Clin Neurol Source Type: research
Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.
CONCLUSIONS: We have identified a novel compound heterozygous RYR1 mutation and demonstrated clinical and pathologic findings in five Korean patients with RYR1-related CM.
PMID: 29629541 [PubMed]
Source: Journal of Clinical Neurology - April 10, 2018 Category: Neurology Tags: J Clin Neurol Source Type: research
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.
CONCLUSIONS: Missense mutations in the triple-helical domain of COL6A1 are the most common mutations related to collagen VI-related myopathy in Korea. Patients with these mutations have a tendency toward an earlier disease onset and more severe progression compared to patients with other mutations.
PMID: 28831785 [PubMed - as supplied by publisher]
Source: Journal of Clinical Neurology - August 25, 2017 Category: Neurology Tags: J Clin Neurol Source Type: research
A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions.
Authors: Ueda K, Serajee F, Huq AM
PMID: 28516742 [PubMed - as supplied by publisher]
Source: Journal of Clinical Neurology - May 20, 2017 Category: Neurology Tags: J Clin Neurol Source Type: research
Electron Microscopy Pathology of ADSSL1 Myopathy.
Authors: Park HJ, Lee JE, Choi GS, Koo H, Han SJ, Yoo JH, Choi YC, Park KD
PMID: 27868399 [PubMed - as supplied by publisher]
Source: Journal of Clinical Neurology - November 23, 2016 Category: Neurology Tags: J Clin Neurol Source Type: research
Whole-Body Muscle MRI in Patients with Hyperkalemic Periodic Paralysis Carrying the SCN4A Mutation T704M: Evidence for Chronic Progressive Myopathy with Selective Muscle Involvement.
CONCLUSIONS: Our whole-body muscle MRI findings provide evidence for chronic progressive myopathy in hyperKPP patients. The reported data suggest that a selective pattern of muscle involvement-affecting the posterior compartment of the lower leg and the anterior thigh-is characteristic of chronic progressive myopathy in hyperKPP.
PMID: 26256659 [PubMed - as supplied by publisher]
Source: Journal of Clinical Neurology - August 11, 2015 Category: Neurology Tags: J Clin Neurol Source Type: research
Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.
CONCLUSIONS: This is the first report of identification of COL6A1-mediated Bethlem myopathy in Korea, and indicates the utility of WES for the diagnosis of muscular dystrophy.
PMID: 25749816 [PubMed - as supplied by publisher]
Source: Journal of Clinical Neurology - March 11, 2015 Category: Neurology Tags: J Clin Neurol Source Type: research
