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Select item 95683731.

刘小璇, 段晓慧, 张朔, 孙阿萍, 张英爽, 樊东升

Beijing Da Xue Xue Bao Yi Xue Ban. 2022 Oct 18; 54(5): 874–883. Chinese. Published online 2022 Sep 14. doi: 10.19723/j.issn.1671-167X.2022.05.015

PMCID:: PMC9568373

Abstract Article PDF–3.2M

Select item 43501962.

Episodic neurological dysfunction in hereditary peripheral neuropathy

Girish Baburao Kulkarni, Pooja Mailankody, Pawanraj Palu Isnwara, Chandrajit Prasad, Veerendrakumar Mustare

Ann Indian Acad Neurol. 2015 Jan-Mar; 18(1): 111–114. doi: 10.4103/0972-2327.144314

PMCID:: PMC4350196

Abstract Article PDF–674K

Select item 38365463.

Neuropathic pain in hereditary peripheral neuropathy

Na Young Jeong, Youn Ho Shin, Junyang Jung

J Exerc Rehabil. 2013 Aug; 9(4): 397–399. Published online 2013 Aug 31. doi: 10.12965/jer.130057

PMCID:: PMC3836546

Abstract Article PDF–136K

Select item 19508334.

Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)

Hee-Jin Kim, Kwang-Min Sohn, Michael E. Shy, Karen M. Krajewski, Miok Hwang, June-Hee Park, Sue-Yon Jang, Hong-Hee Won, Byung-Ok Choi, Sung Hwa Hong, Byoung-Joon Kim, Yeon-Lim Suh, Chang-Seok Ki, Soo-Youn Lee, Sun-Hee Kim, Jong-Won Kim

Am J Hum Genet. 2007 Sep; 81(3): 552–558. Published online 2007 Jun 29. doi: 10.1086/519529

PMCID:: PMC1950833

Abstract Article PDF–613K

Select item 102984625.

Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy

Olga Shchagina, Mariya Orlova, Aisylu Murtazina, Alexandra Filatova, Mikhail Skoblov, Elena Dadali

Int J Mol Sci. 2023 Jun; 24(12): 9786. Published online 2023 Jun 6. doi: 10.3390/ijms24129786

PMCID:: PMC10298462

Abstract Article PDF–967K

Select item 101767186.

Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome

Chenyu Wang, Zhaojing Lin, ZhuangZhuang Yuan, Tieyu Tang, Liangliang Fan, Yihui Liu, Xuan Wu

Hereditas. 2023; 160: 22. Published online 2023 May 12. doi: 10.1186/s41065-023-00282-z

PMCID:: PMC10176718

Abstract Article PDF–3.8M

Select item 92938707.

Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes

Yu Hiramatsu, Yuji Okamoto, Akiko Yoshimura, Jun-Hui Yuan, Masahiro Ando, Yujiro Higuchi, Akihiro Hashiguchi, Eiji Matsuura, Fumihito Nozaki, Tomohiro Kumada, Kei Murayama, Mikiya Suzuki, Yuki Yamamoto, Naoko Matsui, Yoshimichi Miyazaki, Masamitsu Yamaguchi, Youji Suzuki, Jun Mitsui, Hiroyuki Ishiura, Masaki Tanaka, Shinichi Morishita, Ichizo Nishino, Shoji Tsuji, Hiroshi Takashima

J Neurol. 2022; 269(8): 4129–4140. Published online 2022 Mar 2. doi: 10.1007/s00415-022-11026-w

PMCID:: PMC9293870

Abstract Article PDF–2.7M

Select item 88495978.

HDAC6 inhibition corrects electrophysiological and axonal transport deficits in a human stem cell-based model of Charcot-Marie-Tooth disease (type 2D)

Alec S.T. Smith, Jong Hyun Kim, Changho Chun, Ava Gharai, Hyo Won Moon, Eun Young Kim, Soo Hyun Nam, Nina Ha, Ju Yong Song, Ki Wha Chung, Hyun Myung Doo, Jennifer Hesson, Julie Mathieu, Mark Bothwell, Byung-Ok Choi, Deok-Ho Kim

Adv Biol (Weinh) Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Adv Biol (Weinh). 2022 Feb; 6(2): e2101308. Published online 2021 Dec 26. doi: 10.1002/adbi.202101308

PMCID:: PMC8849597

Abstract Article PDF–1.7M

Select item 88308129.

Phenotypic heterogeneity in patients with NEFL‐related Charcot–Marie–Tooth disease

Hye Jin Kim, Sang Beom Kim, Hyun Su Kim, Hye Mi Kwon, Jae Hong Park, Ah Jin Lee, Si On Lim, Soo Hyun Nam, Young Bin Hong, Ki Wha Chung, Byung‐Ok Choi

Mol Genet Genomic Med. 2022 Feb; 10(2): e1870. Published online 2022 Jan 19. doi: 10.1002/mgg3.1870

PMCID:: PMC8830812

Abstract Article PDF–1.3M

Select item 818803010.

Aquaporin-4-antibody-positive Neuromyelitis Optica Spectrum Disorder in a Patient with Charcot-Marie-Tooth Disease Type 1A

Yuichi Hamada, Kazusa Takahashi, Takamichi Kanbayashi, Yuki Hatanaka, Shunsuke Kobayashi, Masahiro Sonoo

Intern Med. 2021 May 15; 60(10): 1611–1614. Published online 2020 Dec 22. doi: 10.2169/internalmedicine.6153-20

PMCID:: PMC8188030

Abstract Article PDF–872K

Select item 815969511.

Adeno-associated virus gene therapy to the rescue for Charcot-Marie-Tooth disease type 4J

John Svaren

J Clin Invest. 2021 Jun 1; 131(11): e149492. Published online 2021 Jun 1. doi: 10.1172/JCI149492

PMCID:: PMC8159695

Abstract Article PDF–479K

Select item 657887612.

Impaired Differentiation of Schwann Cells in Transgenic Mice with Increased PMP22 Gene Dosage

Josef P. Magyar, Rudolf Martini, Thomas Ruelicke, Adriano Aguzzi, Katrin Adlkofer, Zlatko Dembic, Jürgen Zielasek, Klaus V. Toyka, Ueli Suter

J Neurosci. 1996 Sep 1; 16(17): 5351–5360. doi: 10.1523/JNEUROSCI.16-17-05351.1996

PMCID:: PMC6578876

Abstract Article PDF–1.1M

Select item 657334313.

Structural Abnormalities and Deficient Maintenance of Peripheral Nerve Myelin in Mice Lacking the Gap Junction Protein Connexin 32

Patrizia Anzini, Dirk H.-H. Neuberg, Melitta Schachner, Eric Nelles, Klaus Willecke, Jürgen Zielasek, Klaus V. Toyka, Ueli Suter, Rudolf Martini

J Neurosci. 1997 Jun 15; 17(12): 4545–4551. doi: 10.1523/JNEUROSCI.17-12-04545.1997

PMCID:: PMC6573343

Abstract Article PDF–719K

Select item 650215214.

Charcot-Marie-Tooth disease with pyramidal features due to a new mutation of EGR2 gene

Fusco Carlo, Spagnoli Carlotta, Gabriella Salerno Grazia, Pavlidis Elena, Frattini Daniele, Pisani Francesco, Teresa Bassi Maria

Acta Biomed. 2019; 90(1): 104–106. doi: 10.23750/abm.v90i1.6951

PMCID:: PMC6502152

Abstract Article PDF–465K

Select item 607780215.

Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer

Harrison Pantera, John J Moran, Holly A Hung, Evgenia Pak, Amalia Dutra, John Svaren

Hum Mol Genet. 2018 Aug 15; 27(16): 2830–2839. Published online 2018 May 16. doi: 10.1093/hmg/ddy191

PMCID:: PMC6077802

Abstract Article PDF–813K

Select item 505367816.

Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis

Li-Xi Li, Shao-Yun Zhao, Zhi-Jun Liu, Wang Ni, Hong-Fu Li, Bao-Guo Xiao, Zhi-Ying Wu

Oncotarget. 2016 May 10; 7(19): 27655–27664. Published online 2016 Mar 25. doi: 10.18632/oncotarget.8377

PMCID:: PMC5053678

Abstract Article PDF–6.6M

Select item 478429217.

A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2

Yuan Yang, Ling Li

Ital J Pediatr. 2016; 42: 28. Published online 2016 Mar 8. doi: 10.1186/s13052-016-0237-8

PMCID:: PMC4784292

Abstract Article PDF–913K

Select item 49464718.

Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex

G. M. Yuill, P. G. Lynch

J Neurol Neurosurg Psychiatry. 1974 Mar; 37(3): 316–323. doi: 10.1136/jnnp.37.3.316

PMCID:: PMC494647

Summary Page Browse PDF–1.8M

Select item 1097984819.

Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy

Elena R. Rhymes, Rebecca L. Simkin, Ji Qu, David Villarroel-Campos, Sunaina Surana, Yao Tong, Ryan Shapiro, Robert W. Burgess, Xiang-Lei Yang, Giampietro Schiavo, James N. Sleigh

Version 2. bioRxiv. Preprint. 2024 Mar 11. doi: 10.1101/2023.04.09.536152

Published in:: Neurobiol Dis. 2024 Apr 5 : 106501.

PMCID:: PMC10979848

Abstract Article PDF–12M

Select item 1096026720.

Comparative neurological safety of fluoroquinolones versus therapeutic alternatives

Darcy E. Ellis, Rebecca A. Hubbard, Allison W. Willis, Athena F. Zuppa, Theoklis E. Zaoutis, Sean Hennessy

Pharmacoepidemiol Drug Saf. Author manuscript; available in PMC 2024 Mar 23.

Published in final edited form as: Pharmacoepidemiol Drug Saf. 2021 Jun; 30(6): 797–805. Published online 2021 Mar 23. doi: 10.1002/pds.5219

PMCID:: PMC10960267

Abstract Article PDF–438K

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