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Items: 1 to 20 of 122

1.
Sarm1 knockout prevents type 1 diabetic bone disease in females independent of neuropathy
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
AbstractArticlePDF–2.9M
2.
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
AbstractArticlePDF–1.5M
3.
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
AbstractArticlePDF–1.0M
4.
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
AbstractArticlePDF–9.3M
5.
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
AbstractArticlePDF–6.7M
6.
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
AbstractArticlePDF–2.0M
7.
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
AbstractArticlePDF–2.1M
8.
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
AbstractArticlePDF–5.9M
9.
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
AbstractArticlePDF–2.6M
10.
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
AbstractArticlePDF–806K
11.
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
AbstractArticlePDF–2.2M
12.
An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness
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
AbstractArticlePDF–615K
13.
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
AbstractArticlePDF–747K
14.
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
AbstractArticle
15.
A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report
Yan-Yan Xue, Hao-Ling Cheng, Hai-Lin Dong, Hou-Min Yin, Yun Yuan, Ling-Chao Meng, Zhi-Ying Wu, Hao Yu
BMC Neurol. 2021; 21: 402. Published online 2021 Oct 20. doi: 10.1186/s12883-021-02399-y
PMCID:
PMC8527611
AbstractArticlePDF–3.9M
16.
长链非编码 RNA 在周围神经损伤和神经再生中的调控作用
颖 彭, 浩东 林
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2021 Aug; 35(8): 1051–1056. Chinese. doi: 10.7507/1002-1892.202103107
PMCID:
PMC8403991
AbstractArticlePDF–522K
17.
Genetic analysis of Pycr1 and Pycr2 in mice
Morgane G Stum, Abigail L D Tadenev, Kevin L Seburn, Kathy E Miers, Pak P Poon, Christopher R McMaster, Carolyn Robinson, Coleen Kane, Kathleen A Silva, Paul F Cliften, John P Sundberg, Laura G Reinholdt, Simon W M John, Robert W Burgess
Genetics. 2021 May; 218(1): iyab048. Published online 2021 Mar 18. doi: 10.1093/genetics/iyab048
PMCID:
PMC8128379
AbstractArticlePDF–947K
18.
Investigation of Neuropathology after Nerve Release in Chronic Constriction Injury of Rat Sciatic Nerve
Szu-Han Chen, Chia-Ching Wu, Sheng-Che Lin, Wan-Ling Tseng, Tzu-Chieh Huang, Anjali Yadav, Fu-I Lu, Ya-Hsin Liu, Shau-Ping Lin, Yuan-Yu Hsueh
Int J Mol Sci. 2021 May; 22(9): 4746. Published online 2021 Apr 29. doi: 10.3390/ijms22094746
PMCID:
PMC8125611
AbstractArticlePDF–3.7M
19.
Long non‐coding RNAs in motor neuron development and disease
Vamshidhar R. Vangoor, Andreia Gomes‐Duarte, R. Jeroen Pasterkamp
J Neurochem. 2021 Mar; 156(6): 777–801. Published online 2020 Oct 10. doi: 10.1111/jnc.15198
PMCID:
PMC8048821
AbstractArticlePDF–2.0M
20.
LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond
Paulius Palaima, José Berciano, Kristien Peeters, Albena Jordanova
Orphanet J Rare Dis. 2021; 16: 74. Published online 2021 Feb 10. doi: 10.1186/s13023-020-01654-8
PMCID:
PMC7874611
AbstractArticlePDF–1.6M

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