PMC Articles for MedGen (Select 871146) - PMC

Jennifer M. Brazill, Ivana R. Shen, Clarissa S. Craft, Kristann L. Magee, Jay S. Park, Madelyn Lorenz, Amy Strickland, Natalie K. Wee, Xiao Zhang, Alec T. Beeve, Gretchen A. Meyer, Jeffrey Milbrandt, Aaron DiAntonio, Erica L. Scheller

JCI Insight. 2024 Feb 22; 9(4): e175159. Published online 2024 Jan 4. doi: 10.1172/jci.insight.175159

PMCID:: PMC11143934

Abstract Article PDF–2.9M

Select item 110701385.

AIF translocation into nucleus caused by Aifm1 R450Q mutation: generation and characterization of a mouse model for AUNX1

Tao Shi, Ziyi Chen, Jin Li, Hongyang Wang, Qiuju Wang

Hum Mol Genet. 2024 May 15; 33(10): 905–918. Published online 2024 Mar 6. doi: 10.1093/hmg/ddae010

PMCID:: PMC11070138

Abstract Article PDF–3.6M

Select item 107680976.

A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation

Xin Xu, Fen Lu, Senjie Du, Li Zhang

BMC Pediatr. 2024; 24: 21. Published online 2024 Jan 5. doi: 10.1186/s12887-023-04441-z

PMCID:: PMC10768097

Abstract Article PDF–1.5M

Select item 103640447.

Ataxia y neuropatía sensitiva de inicio en la edad adulta como manifestación clínica de mutaciones en el gen POLG

Carmen García-Cabo, Paula Carvajal-García, Iván Fernández-Vega, Jorge Peña-Suárez, Valentín Mateos-Marcos, Patricia Suárez-Santos, Victoria Álvarez-Martínez, Germán Morís-de la Tassa

Rev Neurol. 2023; 76(3): 75–81. Spanish. Published online 2023 Feb 1. doi: 10.33588/rn.7603.2022322

PMCID:: PMC10364044

Abstract Article PDF–1.0M

Select item 100997038.

Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy

Silvia Cipriani, Marta Guerrero‐Valero, Stefano Tozza, Edward Zhao, Veith Vollmer, Danique Beijer, Matt Danzi, Cristina Rivellini, Dejan Lazarevic, Giovanni Battista Pipitone, Bianca Rose Grosz, Costanza Lamperti, Stefania Bianchi Marzoli, Paola Carrera, Marcella Devoto, Chiara Pisciotta, Davide Pareyson, Marina Kennerson, Stefano C. Previtali, Stephan Zuchner, Steven S. Scherer, Fiore Manganelli, Martin Bähler, Alessandra Bolino

Eur J Neurol. 2023 Feb; 30(2): 511–526. Published online 2022 Nov 21. doi: 10.1111/ene.15601

PMCID:: PMC10099703

Abstract Article PDF–9.3M

Select item 100878609.

Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy

Arnaud Jacquier, Shams Ribault, Michel Mendes, Nicolas Lacoste, Valérie Risson, Julien Carras, Philippe Latour, Aleksandra Nadaj‐Pakleza, Tanya Stojkovic, Laurent Schaeffer

Hum Mutat. 2022 Dec; 43(12): 1898–1908. Published online 2022 Aug 18. doi: 10.1002/humu.24445

PMCID:: PMC10087860

Abstract Article PDF–6.7M

Select item 1007750010.

Clinically relevant mouse models of Charcot–Marie–Tooth type 2S

Paige B Martin, Sarah E Holbrook, Amy N Hicks, Timothy J Hines, Laurent P Bogdanik, Robert W Burgess, Gregory A Cox

Hum Mol Genet. 2023 Apr 15; 32(8): 1276–1288. Published online 2022 Nov 22. doi: 10.1093/hmg/ddac283

PMCID:: PMC10077500

Abstract Article PDF–2.0M

Select item 1006179111.

Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation

Lingling Kong, Cera W. Hassinan, Florian Gerstner, Jannik M. Buettner, Jeffrey B. Petigrow, David O. Valdivia, Michelle H. Chan-Cortés, Amy Mistri, Annie Cao, Scott Alan McGaugh, Madeline Denton, Stephen Brown, Joshua Ross, Markus H. Schwab, Christian M. Simon, Charlotte J. Sumner

Acta Neuropathol Commun. 2023; 11: 53. Published online 2023 Mar 30. doi: 10.1186/s40478-023-01551-8

PMCID:: PMC10061791

Abstract Article PDF–2.0M

Select item 1004269712.

AAV1.NT-3 gene therapy prevents age-related sarcopenia

Burcak Ozes, Lingying Tong, Morgan Myers, Kyle Moss, Alicia Ridgley, Zarife Sahenk

Aging (Albany NY) 2023 Mar 15; 15(5): 1306–1329. Published online 2023 Mar 9. doi: 10.18632/aging.204577

PMCID:: PMC10042697

Abstract Article PDF–2.1M

Select item 989198513.

α‐Synuclein aggregation causes muscle atrophy through neuromuscular junction degeneration

Qiumei Yang, Yanyan Wang, Chunsong Zhao, Shimin Pang, Jing Lu, Piu Chan

J Cachexia Sarcopenia Muscle. 2023 Feb; 14(1): 226–242. Published online 2022 Nov 23. doi: 10.1002/jcsm.13123

PMCID:: PMC9891985

Abstract Article PDF–5.9M

Select item 978479814.

Spinal Irisin Gene Delivery Attenuates Burn Injury-Induced Muscle Atrophy by Promoting Axonal Myelination and Innervation of Neuromuscular Junctions

Sheng-Hua Wu, I-Cheng Lu, Shih-Ming Yang, Chia-Fang Hsieh, Chee-Yin Chai, Ming-Hong Tai, Shu-Hung Huang

Int J Mol Sci. 2022 Dec; 23(24): 15899. Published online 2022 Dec 14. doi: 10.3390/ijms232415899

PMCID:: PMC9784798

Abstract Article PDF–2.6M

Select item 974691215.

RAGE activation in macrophages and development of experimental diabetic polyneuropathy

Sho Osonoi, Hiroki Mizukami, Yuki Takeuchi, Hikari Sugawa, Saori Ogasawara, Shizuka Takaku, Takanori Sasaki, Kazuhiro Kudoh, Koichi Ito, Kazunori Sango, Ryoji Nagai, Yasuhiko Yamamoto, Makoto Daimon, Hiroshi Yamamoto, Soroku Yagihashi

JCI Insight. 2022 Dec 8; 7(23): e160555. Published online 2022 Dec 8. doi: 10.1172/jci.insight.160555

PMCID:: PMC9746912

Abstract Article PDF–28M

Select item 960416616.

Lipopolysaccharides (LPSs) as Potent Neurotoxic Glycolipids in Alzheimer’s Disease (AD)

Yuhai Zhao, Vivian R. Jaber, Aileen I. Pogue, Nathan M. Sharfman, Christopher Taylor, Walter J. Lukiw

Int J Mol Sci. 2022 Oct; 23(20): 12671. Published online 2022 Oct 21. doi: 10.3390/ijms232012671

PMCID:: PMC9604166

Abstract Article PDF–806K

Select item 959977317.

Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation in HSPB1 Gene: A Case Series

Xiya Shen, Jiawei Zhang, Feixia Zhan, Wotu Tian, Qingqing Jiang, Xinghua Luan, Xiaojie Zhang, Li Cao

Biomolecules. 2022 Oct; 12(10): 1382. Published online 2022 Sep 27. doi: 10.3390/biom12101382

PMCID:: PMC9599773

Abstract Article PDF–2.2M

Select item 925930718.

Yasuyoshi Kimura, Akira Nishikawa, Akihiro Hashiguchi, Masaki Etoh, Akiko Yoshimura, Kanako Asai, Noriko Miyashita, Hiroshi Takashima, Hisae Sumi, Takashi Naka

Intern Med. 2022 Jun 1; 61(11): 1743–1747. Published online 2021 Nov 20. doi: 10.2169/internalmedicine.6487-20

PMCID:: PMC9259307

Abstract Article PDF–615K

Select item 880113419.

Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene

Yufeng Huang, Bo Bi, Peiwei Zhao, Ting Yu, Sukun Luo, Li Tan, Zhisheng Liu, Jie Liu, Xuelian He

Mol Genet Genomic Med. 2022 Jan; 10(1): e1846. Published online 2021 Dec 12. doi: 10.1002/mgg3.1846

PMCID:: PMC8801134

Abstract Article PDF–747K

Select item 856050020.

Morc2a p.S87L mutant mice develop peripheral and central neuropathies associated with neuronal DNA damage and apoptosis

Geon Seong Lee, Geon Kwak, Ji Hyun Bae, Jeong Pil Han, Soo Hyun Nam, Jeong Hyeon Lee, Sumin Song, Gap-Don Kim, Tae Sub Park, Yang Kyu Choi, Byung-Ok Choi, Su Cheong Yeom

Dis Model Mech. 2021 Oct 1; 14(10): dmm049123. Published online 2021 Oct 25. doi: 10.1242/dmm.049123

PMCID:: PMC8560500

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