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Items: 1 to 20 of 24

1.
The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy
Feng Lin, Kang Yang, Min‐ting Lin, Fu‐ze Zheng, Long Chen, Yuan‐liang Ding, Zhi‐xian Ye, Xin Lin, Ning Wang, Zhi‐qiang Wang
Ann Clin Transl Neurol. 2023 Mar; 10(3): 426–439. Published online 2023 Jan 23. doi: 10.1002/acn3.51733
PMCID:
PMC10014010
ArticlePDF–3.7M
2.
Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families
Moxin Chen, Rui Huang, Yingjie Zhang, Deyi Jasmine Zhu, Qin Shu, Pengcheng Xun, Jing Zhang, Ping Gu, Lin Li
Graefes Arch Clin Exp Ophthalmol. 2023; 261(3): 879–889. Published online 2022 Sep 23. doi: 10.1007/s00417-022-05830-3
PMCID:
PMC9988770
ArticlePDF–1.3M
3.
A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation
Yo-suke Nishii, Yu-ichi Noto, Rei Yasuda, Takamasa Kitaoji, Shinji Ashida, Eijirou Tanaka, Narihiro Minami, Ichizo Nishino, Toshiki Mizuno
BMC Neurol. 2021; 21: 265. Published online 2021 Jul 5. doi: 10.1186/s12883-021-02300-x
PMCID:
PMC8256512
ArticlePDF–1.5M
4.
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy
Jianwen Deng, Jiaxi Yu, Pidong Li, Xinghua Luan, Li Cao, Juan Zhao, Meng Yu, Wei Zhang, He Lv, Zhiying Xie, LingChao Meng, Yiming Zheng, Yawen Zhao, Qiang Gang, Qingqing Wang, Jing Liu, Min Zhu, Xueyu Guo, Yanan Su, Yu Liang, Fan Liang, Tomohiro Hayashi, Meiko Hashimoto Maeda, Tatsuro Sato, Shigehisa Ura, Yasushi Oya, Masashi Ogasawara, Aritoshi Iida, Ichizo Nishino, Chang Zhou, Chuanzhu Yan, Yun Yuan, Daojun Hong, Zhaoxia Wang
Am J Hum Genet. 2020 Jun 4; 106(6): 793–804. Published online 2020 May 14. doi: 10.1016/j.ajhg.2020.04.011
PMCID:
PMC7273532
ArticlePDF–2.2M
5.
Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report
Zhan-Yun Lv, Xue-Mei Xu, Xiao-Fu Cao, Qian Wang, Da-Fang Sun, Wen-Jing Tian, Yan Yang, Yu-Zhong Wang, Yan-Lei Hao
Medicine (Baltimore) 2017 Dec; 96(48): e8869. Published online 2017 Dec 1. doi: 10.1097/MD.0000000000008869
PMCID:
PMC5728770
ArticlePDF–447K
6.
Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy
Pascale Richard, Capucine Trollet, Tanya Stojkovic, Alix de Becdelievre, Sophie Perie, Jean Pouget, Bruno Eymard, For the Neurologists of French Neuromuscular Reference Centers CORNEMUS and FILNEMUS
Neurology. 2017 Jan 24; 88(4): 359–365. doi: 10.1212/WNL.0000000000003554
PMCID:
PMC5272966
ArticlePDF–386K
7.
Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia
Cynthia Yu-Wai-Man, Fiona E. Smith, Michael J. Firbank, Grant Guthrie, Stuart Guthrie, Grainne S. Gorman, Robert W. Taylor, Douglass M. Turnbull, Philip G. Griffiths, Andrew M. Blamire, Patrick F. Chinnery, Patrick Yu-Wai-Man
PLoS One. 2013; 8(9): e75048. Published online 2013 Sep 27. doi: 10.1371/journal.pone.0075048
PMCID:
PMC3785524
ArticlePDF–1.2M
8.
Have one's view of the important overshadowed by the trivial: chronic progressive external ophthalmoplegia combined with unilateral facial nerve injury: a case report and literature review
Ziyang Feng, Rui Lai, Jia Wei, Xuan Liu, Xueqin Chen, Yangsicheng Liu, Wenxin Qin, Xiude Qin, Fanxin Kong
Front Neurol. 2023; 14: 1268053. Published online 2024 Jan 5. doi: 10.3389/fneur.2023.1268053
PMCID:
PMC10797034
ArticlePDF–1.1M
9.
Fatal intracerebral hemorrhage following endovascular Onyx embolization of an arteriovenous malformation: A case report
Geo-Seong Park, Jung-Soo Park
Medicine (Baltimore) 2024 Jan 5; 103(1): e36686. Published online 2024 Jan 5. doi: 10.1097/MD.0000000000036686
PMCID:
PMC10766310
ArticlePDF–391K
10.
A Challenging Case: Botulism in a Toddler
Carolina Castro, Joana Machado Morais, Ana Luisa Correia, Rui Almeida, Sérgia Soares
Cureus. 2023 Dec; 15(12): e49924. Published online 2023 Dec 4. doi: 10.7759/cureus.49924
PMCID:
PMC10763993
ArticlePDF–165K
11.
Orbital Cholesterol Granuloma: Report of Two Cases
Mohammad Etezad-Razavi, Farid Shekarchian, Fereshteh Raoufi, Sahel Khazaei
J Curr Ophthalmol. 2023 Jan-Mar; 35(1): 96–99. Published online 2023 Aug 11. doi: 10.4103/joco.joco_365_21
PMCID:
PMC10481984
ArticlePDF–1.7M
12.
Choked: A Case Report of Oculopharyngeal Muscular Dystrophy Mimicking Hypothyroidism From the Philippines
Jerome M Infante, Belinda Lioba Nepomuceno
Cureus. 2023 Jun; 15(6): e41025. Published online 2023 Jun 27. doi: 10.7759/cureus.41025
PMCID:
PMC10373107
ArticlePDF–109K
13.
MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO)
Dipti Baskar, Seena Vengalil, Saraswati Nashi, Mainak Bardhan, Kosha Srivastava, Sai Bhargava Sanka, Kiran Polavarapu, Deepak Menon, Veeramani Preethish-Kumar, Hansashree Padmanabha, Gautham Arunachal, Atchayaram Nalini
J Neuromuscul Dis. 2023; 10(4): 727–730. Prepublished online 2023 May 2. Published online 2023 Jul 4. doi: 10.3233/JND-230017
PMCID:
PMC10357141
ArticlePDF–427K
14.
Botulinum Toxin Type A Injection for Correction of Upper Eyelid Retraction in Thyroid-Associated Ophthalmopathy
Jing Yang, Xiuyu Hu, Qingfeng Li, Ru-Lin Huang
J Craniofac Surg. 2023 Jul-Aug; 34(5): e485–e488. Published online 2023 May 24. doi: 10.1097/SCS.0000000000009347
PMCID:
PMC10292564
ArticlePDF–270K
15.
Varying Clinical Phenotypes of Mitochondrial DNA T12811C Mutation: A Case Series Report
Qingdan Xu, Ping Sun, Chaoyi Feng, Qian Chen, Xinghuai Sun, Yuhong Chen, Guohong Tian
Front Med (Lausanne) 2022; 9: 912103. Published online 2022 Jul 4. doi: 10.3389/fmed.2022.912103
PMCID:
PMC9291510
ArticlePDF–4.2M
16.
A Complete Response of Orbital Metastases in Breast Cancer Patient Treated with Oral Chemotherapy: Case Report and Literature Review
Majd Mahmoud Sharaf, Yousef Maen Al-Oudat, Maher Saifo
Case Rep Oncol. 2022 Jan-Apr; 15(1): 423–429. Published online 2022 Apr 21. doi: 10.1159/000524276
PMCID:
PMC9149480
ArticlePDF–762K
17.
Rare presentations of primary amyloidosis as ptosis: a case report
Peng-Hsuan Lee, I-Chuang Liao, Wan-Ju Annabelle Lee
BMC Ophthalmol. 2022; 22: 43. Published online 2022 Jan 29. doi: 10.1186/s12886-022-02267-4
PMCID:
PMC8800210
ArticlePDF–1.0M
18.
Carotid-cavernous Fistula Associated with a Ruptured Persistent Primitive Trigeminal Artery Aneurysm: A Case Report and Review of Literature
Koji SHIOMI, Yukihiro YAMAO, Akira ISHII, Takayuki KIKUCHI, Masakazu OKAWA, Kiyofumi YAMADA, Kazumichi YOSHIDA, Susumu MIYAMOTO
NMC Case Rep J. 2021; 8(1): 691–696. Published online 2021 Oct 16. doi: 10.2176/nmccrj.cr.2021-0084
PMCID:
PMC8769437
ArticlePDF–1.4M
19.
Recent Progress in Oculopharyngeal Muscular Dystrophy
Satoshi Yamashita
J Clin Med. 2021 Apr; 10(7): 1375. Published online 2021 Mar 29. doi: 10.3390/jcm10071375
PMCID:
PMC8036457
ArticlePDF–964K
20.
Giant eyelid eccrine hidrocystoma-induced progressive ptosis in childhood
Dhivya Ashok Kumar, Amar Agarwal
Indian J Ophthalmol. 2017 Sep; 65(9): 884–886. doi: 10.4103/ijo.IJO_78_17
PMCID:
PMC5621279
ArticlePDF–1.4M

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