PMC Articles for MedGen (Select 66808) - PMC

Result Filters

Links from MedGen

Items: 16

Select item 57103281.

Skeletal Muscle Involvement in Antisynthetase Syndrome

Eri Noguchi, Akinori Uruha, Shigeaki Suzuki, Kohei Hamanaka, Yuko Ohnuki, Jun Tsugawa, Yurika Watanabe, Jin Nakahara, Takashi Shiina, Norihiro Suzuki, Ichizo Nishino

JAMA Neurol. 2017 Aug; 74(8): 992–999. Prepublished online 2017 Jun 5. Published online 2017 Aug 14. doi: 10.1001/jamaneurol.2017.0934

PMCID:: PMC5710328

Article

Select item 51110072.

SCN8A mutation in a child presenting with seizures and developmental delays

Janet Malcolmson, Robert Kleyner, David Tegay, Whit Adams, Kenneth Ward, Justine Coppinger, Lesa Nelson, Miriam H. Meisler, Kai Wang, Reid Robison, Gholson J. Lyon

Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001073. doi: 10.1101/mcs.a001073

PMCID:: PMC5111007

Article PDF–1.6M

Select item 43140003.

Chronic progressive external ophthalmoplegia with inflammatory myopathy

Ting Chen, Chuanqiang Pu, Qiang Shi, Qian Wang, Lu Cong, Jiexiao Liu, Hongyu Luo, Lingna Fei, Wei Tang, Shanshan Yu

Int J Clin Exp Pathol. 2014; 7(12): 8887–8892. Published online 2014 Dec 1.

PMCID:: PMC4314000

Article PDF–793K

Select item 106955454.

Acute cricopharyngeal achalasia after general anesthesia in myotonic dystrophy: A case report

Yunjung Rho, Jinmann Chon, Myung Chul Yoo, Ga Yang Shim, Sung Joon Chung, Yunsoo Soh

Medicine (Baltimore) 2023 Dec 1; 102(48): e36378. Published online 2023 Dec 1. doi: 10.1097/MD.0000000000036378

PMCID:: PMC10695545

Article PDF–421K

Select item 104603835.

Early electrophysiological study variants and their relationship with clinical presentation and outcomes of patients with Guillain-Barré syndrome

Eman M. Khedr, Mohamed M. Shehab, Mohamed Z. Mohamed, Khaled O. Mohamed

Sci Rep. 2023; 13: 14000. Published online 2023 Aug 26. doi: 10.1038/s41598-023-41072-x

PMCID:: PMC10460383

Article PDF–959K

Select item 95950386.

Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study

Marie Wencel, Aziz Shaibani, Namita A. Goyal, Mazen M. Dimachkie, Jaya Trivedi, Nicholas E. Johnson, Laurie Gutmann, Matthew P. Wicklund, Sankar Bandyopadhay, Angela L. Genge, Miriam L. Freimer, Neelam Goyal, Alan Pestronk, Julaine Florence, Chafic Karam, Jeffrey W. Ralph, Zinah Rasheed, Melissa Hays, Steve Hopkins, Tahseen Mozaffar

Neurol Genet. 2021 Dec; 7(6): e623. Published online 2021 Oct 18. doi: 10.1212/NXG.0000000000000623

PMCID:: PMC9595038

Article PDF–296K

Select item 93073977.

MuSK-Myasthenia Gravis Unmasked by Hydroxychloroquine

Shalini Bhaskar, Mohammed Fauzi Bin Abdul Rani

Case Rep Med. 2022; 2022: 4802538. Published online 2022 Jul 15. doi: 10.1155/2022/4802538

PMCID:: PMC9307397

Article PDF–1.1M

Select item 61598678.

Prediction of organophosphorus insecticide-induced intermediate syndrome with stimulated concentric needle single fibre electromyography

Chanika Alahakoon, Tharaka L. Dassanayake, Indika B. Gawarammana, E. Michael Sedgwick, Vajira S. Weerasinghe, Ahmed Abdalla, Michael S. Roberts, Nicholas A. Buckley

PLoS One. 2018; 13(9): e0203596. Published online 2018 Sep 27. doi: 10.1371/journal.pone.0203596

PMCID:: PMC6159867

Article PDF–3.9M

Select item 52224989.

An Objective Functional Characterisation of Head Movement Impairment in Individuals with Neck Muscle Weakness Due to Amyotrophic Lateral Sclerosis

Silvia Pancani, Wendy Tindale, Pamela J. Shaw, Christopher J. McDermott, Claudia Mazzà

PLoS One. 2017; 12(1): e0169019. Published online 2017 Jan 9. doi: 10.1371/journal.pone.0169019

PMCID:: PMC5222498

Article PDF–1.9M

Select item 485089610.

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition

Slavé Petrovski, Vandana Shashi, Steven Petrou, Kelly Schoch, Keisha Melodi McSweeney, Ryan S. Dhindsa, Brian Krueger, Rebecca Crimian, Laura E. Case, Roha Khalid, Maysantoine A. El-Dairi, Yong-Hui Jiang, Mohamad A. Mikati, David B. Goldstein

Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1): a000257. doi: 10.1101/mcs.a000257