PMC Articles for MedGen (Select 334023) - PMC

Select item 109798481.

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

Article PDF–12M

Select item 98085602.

A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy

Megan E. Forrest, Alayne P. Meyer, Stephanie M. Laureano Figueroa, Anthony Antonellis

Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006246. doi: 10.1101/mcs.a006246

PMCID:: PMC9808560

Article PDF–1.9M

Select item 11804043.

Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35

Albena Jordanova, Florian P. Thomas, Velina Guergueltcheva, Ivailo Tournev, Francisco A. A. Gondim, Borjana Ishpekova, Els De Vriendt, An Jacobs, Ivan Litvinenko, Neviana Ivanova, Borjan Buzhov, Peter De Jonghe, Ivo Kremensky, Vincent Timmerman

Am J Hum Genet. 2003 Dec; 73(6): 1423–1430. Published online 2003 Nov 6. doi: 10.1086/379792

PMCID:: PMC1180404

Article PDF–171K

Select item 53997294.

Anatomical distributional defects in mutant genes associated with dominant intermediate Charcot-Marie-Tooth disease type C in an adenovirus-mediated mouse model

SeoJin Lee, Sandesh Panthi, Hyun Woo Jo, Jaeyoung Cho, Min-Sik Kim, Na Young Jeong, In Ok Song, Junyang Jung, Youngbuhm Huh

Neural Regen Res. 2017 Mar; 12(3): 486–492. doi: 10.4103/1673-5374.202920

PMCID:: PMC5399729

Article PDF–1.1M

Select item 68594115.

The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease

RITA MACHADO, JORGE PINTO-BASTO, LUÍS NEGRÃO

Acta Myol. 2019 Sep; 38(3): 180–183. Published online 2019 Sep 1.

PMCID:: PMC6859411

Article PDF–242K

Select item 66747016.

Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons

Anthony Antonellis, Shih-Queen Lee-Lin, Amy Wasterlain, Paul Leo, Martha Quezado, Lev G. Goldfarb, Kyungjae Myung, Shawn Burgess, Kenneth H. Fischbeck, Eric D. Green

J Neurosci. 2006 Oct 11; 26(41): 10397–10406. doi: 10.1523/JNEUROSCI.1671-06.2006

PMCID:: PMC6674701

Article PDF–471K

Select item 57378017.

Alternative stable conformation capable of protein misinteraction links tRNA synthetase to peripheral neuropathy

David Blocquel, Sheng Li, Na Wei, Herwin Daub, Mathew Sajish, Maria-Luise Erfurth, Grace Kooi, Jiadong Zhou, Ge Bai, Paul Schimmel, Albena Jordanova, Xiang-Lei Yang

Nucleic Acids Res. 2017 Jul 27; 45(13): 8091–8104. Published online 2017 May 22. doi: 10.1093/nar/gkx455

PMCID:: PMC5737801

Article PDF–3.9M

Select item 55625608.

Intermediate Charcot-Marie-Tooth disease

Lei Liu, Ruxu Zhang

Neurosci Bull. 2014 Dec; 30(6): 999–1009. Published online 2014 Oct 17. doi: 10.1007/s12264-014-1475-7

PMCID:: PMC5562560

Article PDF–394K

Select item 50536789.

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

Article PDF–6.6M

Select item 359184410.

Exome Sequencing Identifies GNB4 Mutations as a Cause of Dominant Intermediate Charcot-Marie-Tooth Disease

Bing-Wen Soong, Yen-Hua Huang, Pei-Chien Tsai, Chien-Chang Huang, Hung-Chuan Pan, Yi-Chun Lu, Hsin-Ju Chien, Tze-Tze Liu, Ming-Hong Chang, Kon-Ping Lin, Pang-Hsien Tu, Lung-Sen Kao, Yi-Chung Lee

Am J Hum Genet. 2013 Mar 7; 92(3): 422–430. doi: 10.1016/j.ajhg.2013.01.014

PMCID:: PMC3591844

Article PDF–1.0M

Select item 354825311.

A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease

Paschalis Nicolaou, Carlo Cianchetti, Anna Minaidou, Giovanni Marrosu, Eleni Zamba-Papanicolaou, Lefkos Middleton, Kyproula Christodoulou

Eur J Hum Genet. 2013 Feb; 21(2): 190–194. Published online 2012 Jul 11. doi: 10.1038/ejhg.2012.146

PMCID:: PMC3548253

Article PDF–949K

Select item 324278312.

The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

Kon-Ping Lin, Bing-Wen Soong, Chih-Chao Yang, Li-Wen Huang, Ming-Hong Chang, I-Hui Lee, Antony Antonellis, Yi-Chung Lee

PLoS One. 2011; 6(12): e29393. Published online 2011 Dec 19. doi: 10.1371/journal.pone.0029393

Correction in:: PLoS One. 2012; 7(1): 10.1371/annotation/237439db-35ae-4884-9ee7-2ae19872a581.

PMCID:: PMC3242783

Article PDF–557K

Select item 270225713.

Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot–Marie–Tooth neuropathy

Erik Storkebaum, Ricardo Leitão-Gonçalves, Tanja Godenschwege, Leslie Nangle, Monica Mejia, Inge Bosmans, Tinne Ooms, An Jacobs, Patrick Van Dijck, Xiang-Lei Yang, Paul Schimmel, Koen Norga, Vincent Timmerman, Patrick Callaerts, Albena Jordanova

Proc Natl Acad Sci U S A. 2009 Jul 14; 106(28): 11782–11787. Published online 2009 Jun 26. doi: 10.1073/pnas.0905339106

PMCID:: PMC2702257

Article PDF–1.8M

Select item 474089014.

Zebrafish as a Model to Investigate Dynamin 2-Related Diseases

Cinzia Bragato, Germano Gaudenzi, Flavia Blasevich, Giulio Pavesi, Lorenzo Maggi, Michele Giunta, Franco Cotelli, Marina Mora

Sci Rep. 2016; 6: 20466. Published online 2016 Feb 4. doi: 10.1038/srep20466

PMCID:: PMC4740890

Article PDF–1.8M

Select item 408616215.

CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila

Biljana Ermanoska, William W. Motley, Ricardo Leitão-Gonçalves, Bob Asselbergh, LaTasha H. Lee, Peter De Rijk, Kristel Sleegers, Tinne Ooms, Tanja A. Godenschwege, Vincent Timmerman, Kenneth H. Fischbeck, Albena Jordanova

Neurobiol Dis. Author manuscript; available in PMC 2015 Aug 1.

Published in final edited form as: Neurobiol Dis. 2014 Aug; 68: 180–189. Published online 2014 May 5. doi: 10.1016/j.nbd.2014.04.020

PMCID:: PMC4086162

Article PDF–1.2M

Select item 303065316.

An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations

Morgane Stum, Heather M. McLaughlin, Erica L. Kleinbrink, Kathy E. Miers, Susan L. Ackerman, Kevin L. Seburn, Anthony Antonellis, Robert W. Burgess

Mol Cell Neurosci. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Mol Cell Neurosci. 2011 Feb; 46(2): 432–443. Published online 2010 Nov 27. doi: 10.1016/j.mcn.2010.11.006

PMCID:: PMC3030653

Article PDF–2.6M

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