PMC Articles for MedGen (Select 1786836) - PMC

Select item 110216221.

Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia

Yusen Qiu, Ying Xiong, Lulu Wang, Min Zhu, Dandan Tan, Daojun Hong

Ann Clin Transl Neurol. 2024 Apr; 11(4): 1067–1074. Published online 2024 Mar 4. doi: 10.1002/acn3.52037

PMCID:: PMC11021622

Abstract Article PDF–1.1M

Select item 91186202.

Different electrophysiology patterns in GNE myopathy

Xiangyi Liu, Yingshuang Zhang, Shuo Zhang, Aping Sun, Danfeng Zheng, Dongsheng Fan, Xiaoxuan Liu

Orphanet J Rare Dis. 2022; 17: 206. Published online 2022 May 19. doi: 10.1186/s13023-022-02355-0

PMCID:: PMC9118620

Abstract Article PDF–1.0M

Select item 81648613.

GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy

Jiaxi Yu, Xing‐hua Luan, Meng Yu, Wei Zhang, He Lv, Li Cao, Lingchao Meng, Min Zhu, Binbin Zhou, Xiao‐rong Wu, Pidong Li, Qiang Gang, Jing Liu, Xin Shi, Wei Liang, Zhirong Jia, Sheng Yao, Yun Yuan, Jianwen Deng, Daojun Hong, Zhaoxia Wang

Ann Clin Transl Neurol. 2021 Jun; 8(6): 1330–1342. Published online 2021 May 4. doi: 10.1002/acn3.51371

PMCID:: PMC8164861

Abstract Article PDF–6.0M

Select item 73872134.

Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: report of two novel variants

Maxwell T. Ma, Dong-Hui Chen, Wendy H. Raskind, Thomas D. Bird

Neuromuscul Disord. Author manuscript; available in PMC 2021 Jul 1.

Published in final edited form as: Neuromuscul Disord. 2020 Jul; 30(7): 572–575. Published online 2020 May 23. doi: 10.1016/j.nmd.2020.05.005

PMCID:: PMC7387213

Abstract Article PDF–545K

Select item 70429705.

Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation

Antonis Ververis, Rana Dajani, Pantelitsa Koutsou, Ahmad Aloqaily, Carol Nelson-Williams, Erin Loring, Ala Arafat, Ammar Fayez Mubaidin, Khalid Horany, Mai B Bader, Yaqoub Al-Baho, Bushra Ali, Abdurrahman Muhtaseb, Tyrone DeSpenza Jr, Abdelkarim A Al-Qudah, Lefkos T Middleton, Eleni Zamba-Papanicolaou, Richard Lifton, Kyproula Christodoulou

J Med Genet. 2020 Mar; 57(3): 178–186. Published online 2019 Sep 11. doi: 10.1136/jmedgenet-2019-106108

PMCID:: PMC7042970

Abstract Article PDF–1.0M

Select item 38484286.

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes

Olivia Schreiber, Peter Schneiderat, Wolfram Kress, Bernd Rautenstrauss, Jan Senderek, Benedikt Schoser, Maggie C Walter

BMC Med Genet. 2013; 14: 92. Published online 2013 Sep 16. doi: 10.1186/1471-2350-14-92

PMCID:: PMC3848428

Abstract Article PDF–1.1M

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