Cargando…

The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy

OBJECTIVE: Oculopharyngeal muscular dystrophy (OPMD) is a late‐onset inherited neuromuscular disorder, with progressive ptosis and dysphagia as common manifestations. To date, OPMD has rarely been reported among East Asians. The present study summarizes the phenotypic and genotypic features of Chine...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lin, Feng, Yang, Kang, Lin, Min‐ting, Zheng, Fu‐ze, Chen, Long, Ding, Yuan‐liang, Ye, Zhi‐xian, Lin, Xin, Wang, Ning, Wang, Zhi‐qiang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2023
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014010/ https://www.ncbi.nlm.nih.gov/pubmed/36691350 http://dx.doi.org/10.1002/acn3.51733

Ejemplares similares

Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report()
por: Maeda, Marilia Yuri, et al.
Publicado: (2015)

Recent Progress in Oculopharyngeal Muscular Dystrophy
por: Yamashita, Satoshi
Publicado: (2021)

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy
por: Richard, Pascale, et al.
Publicado: (2017)

Dysphagia with fatal choking in oculopharyngeal muscular dystrophy: Case report
por: Chen, Andy Wei-Ge, et al.
Publicado: (2018)

New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients
por: Lin, Feng, et al.
Publicado: (2015)

Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients
por: Lin, Feng, et al.
Publicado: (2023)

Oculopharyngeal Muscular Dystrophy as a Paradigm for Muscle Aging
por: Raz, Yotam, et al.
Publicado: (2014)

Oculopharyngeal muscular dystrophy as a rare cause of dysphagia
por: Werling, Sarah, et al.
Publicado: (2015)

PABPN1 gene therapy for oculopharyngeal muscular dystrophy
por: Malerba, A., et al.
Publicado: (2017)

Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy
por: Tankink, Maurits, et al.
Publicado: (2022)

Swallowing, Chewing and Speaking: Frequently Impaired in Oculopharyngeal Muscular Dystrophy
por: Kroon, Rosemarie H.M.J.M., et al.
Publicado: (2020)

Muscle ultrasound is a sensitive biomarker in oculopharyngeal muscular dystrophy
por: Kroon, Rosemarie H. M. J. M., et al.
Publicado: (2022)

P-7 Clinical and electrophysiological feature of 13 Italian patients with oculopharyngeal muscular dystrophy (OPMD)
por: Fiorillo, C., et al.
Publicado: (2011)

Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy
por: Raz, Vered, et al.
Publicado: (2020)

Inhibition of myostatin improves muscle atrophy in oculopharyngeal muscular dystrophy (OPMD)
por: Harish, Pradeep, et al.
Publicado: (2019)

RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement
por: Abu-Baker, Aida, et al.
Publicado: (2019)

Oculopharyngeal muscular dystrophy misdiagnosed as myasthenia gravis: Case report and review of literature
por: Aryani, Omid, et al.
Publicado: (2017)

Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy
por: Raz, Vered, et al.
Publicado: (2013)

Activation of the ubiquitin-proteasome system contributes to oculopharyngeal muscular dystrophy through muscle atrophy
por: Ribot, Cécile, et al.
Publicado: (2022)

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy
por: Ogasawara, Masashi, et al.
Publicado: (2022)

Oculopharyngeal muscular dystrophy mutations link the RNA‐binding protein HNRNPQ to autophagosome biogenesis
por: Ishtayeh, Hasan, et al.
Publicado: (2023)

Choked: A Case Report of Oculopharyngeal Muscular Dystrophy Mimicking Hypothyroidism From the Philippines
por: Infante, Jerome M, et al.
Publicado: (2023)

A GCG expansion (GCG)(11) in polyadenylate-binding protein nuclear 1 gene caused oculopharyngeal muscular dystrophy in a Chinese family
por: Ye, Juan, et al.
Publicado: (2011)

Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report
por: Bumm, Klaus, et al.
Publicado: (2009)

2396: Utility of the Modified Barium Swallow Impairment Profile as an outcome measure in oculopharyngeal muscular dystrophy
por: Youssof, Sarah, et al.
Publicado: (2018)

BB-301: a silence and replace AAV-based vector for the treatment of oculopharyngeal muscular dystrophy
por: Strings-Ufombah, Vanessa, et al.
Publicado: (2021)

Longitudinal Assessment of Strength, Functional Capacity, Oropharyngeal Function, and Quality of Life in Oculopharyngeal Muscular Dystrophy
por: Kroon, Rosemarie H.M.J.M., et al.
Publicado: (2021)

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
por: Kim, Hong Joo, et al.
Publicado: (2022)

Over-expression of BCL2 rescues muscle weakness in a mouse model of oculopharyngeal muscular dystrophy
por: Davies, Janet E., et al.
Publicado: (2011)

Antiprion drugs 6-aminophenanthridine and guanabenz reduce PABPN1 toxicity and aggregation in oculopharyngeal muscular dystrophy
por: Barbezier, Nicolas, et al.
Publicado: (2011)

Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/β-catenin pathway
por: Abu-Baker, A, et al.
Publicado: (2013)

An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy
por: Vest, Katherine E., et al.
Publicado: (2015)

Pharyngeal pathology in a mouse model of oculopharyngeal muscular dystrophy is associated with impaired basal autophagy in myoblasts
por: Zhang, Yu, et al.
Publicado: (2022)

Mitochondrial Dysfunction Reveals the Role of mRNA Poly(A) Tail Regulation in Oculopharyngeal Muscular Dystrophy Pathogenesis
por: Chartier, Aymeric, et al.
Publicado: (2015)

Inhibition of Myostatin Reduces Collagen Deposition in a Mouse Model of Oculopharyngeal Muscular Dystrophy (OPMD) With Established Disease
por: Harish, Pradeep, et al.
Publicado: (2020)

Genotype-Phenotype Correlation in Chinese Patients with Spinal and Bulbar Muscular Atrophy
por: Ni, Wang, et al.
Publicado: (2015)

A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2
por: Qiu, Liang-Liang, et al.
Publicado: (2021)

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling
por: Richard, Pascale, et al.
Publicado: (2015)

The small compound Icerguastat reduces muscle defects in oculopharyngeal muscular dystrophy through the PERK pathway of the unfolded protein response
por: Naït-Saïdi, Rima, et al.
Publicado: (2023)

Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients
por: Huang, Xiuli, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_5cgvm15a382cd02a5vk9ri5dqe