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Items: 15

Select item 96791711.

NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

Matthew J Jennings, Alexia Kagiava, Leen Vendredy, Emily L Spaulding, Marina Stavrou, Denisa Hathazi, Anika Grüneboom, Vicky De Winter, Burkhard Gess, Ulrike Schara, Oksana Pogoryelova, Hanns Lochmüller, Christoph H Borchers, Andreas Roos, Robert W Burgess, Vincent Timmerman, Kleopas A Kleopa, Rita Horvath

Brain. 2022 Nov; 145(11): 3999–4015. Published online 2022 Feb 11. doi: 10.1093/brain/awac055

PMCID:: PMC9679171

Abstract Article PDF–1.7M

Select item 29084732.

Mutant HSPB8 causes motor neuron-specific neurite degeneration

Joy Irobi, Leonardo Almeida-Souza, Bob Asselbergh, Vicky De Winter, Sofie Goethals, Ines Dierick, Jyothsna Krishnan, Jean-Pierre Timmermans, Wim Robberecht, Peter De Jonghe, Ludo Van Den Bosch, Sophie Janssens, Vincent Timmerman

Hum Mol Genet. 2010 Aug 15; 19(16): 3254–3265. Published online 2010 Jun 10. doi: 10.1093/hmg/ddq234

PMCID:: PMC2908473

Abstract Article PDF–557K

Select item 55063803.

L-3-n-Butylphthalide Protects HSPB8 K141N Mutation-Induced Oxidative Stress by Modulating the Mitochondrial Apoptotic and Nrf2 Pathways

Xiao-Dong Yang, Zhi-Dong Cen, Hai-Peng Cheng, Kai Shi, Jie Bai, Fei Xie, Hong-Wei Wu, Bei-Bei Li, Wei Luo

Front Neurosci. 2017; 11: 402. Published online 2017 Jul 12. doi: 10.3389/fnins.2017.00402

PMCID:: PMC5506380

Abstract Article PDF–2.3M

Select item 41461904.

A novel transgenic mouse model of Chinese Charcot-Marie-Tooth disease type 2L

Ruxu Zhang, Fufeng Zhang, Xiaobo Li, Shunxiang Huang, Xiaohong Zi, Ting Liu, Sanmei Liu, Xuning Li, Kun Xia, Qian Pan, Beisha Tang

Neural Regen Res. 2014 Feb 15; 9(4): 413–419. doi: 10.4103/1673-5374.128248

PMCID:: PMC4146190

Abstract Article PDF–1.1M

Select item 103514725.

HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies

Barbara Tedesco, Leen Vendredy, Elias Adriaenssens, Marta Cozzi, Bob Asselbergh, Valeria Crippa, Riccardo Cristofani, Paola Rusmini, Veronica Ferrari, Elena Casarotto, Marta Chierichetti, Francesco Mina, Paola Pramaggiore, Mariarita Galbiati, Margherita Piccolella, Jonathan Baets, Femke Baeke, Riet De Rycke, Vincent Mouly, Tommaso Laurenzi, Ivano Eberini, Anna Vihola, Bjarne Udd, Lan Weiss, Virginia Kimonis, Vincent Timmerman, Angelo Poletti

Autophagy. 2023; 19(8): 2217–2239. Published online 2023 Feb 28. doi: 10.1080/15548627.2023.2179780

PMCID:: PMC10351472

Abstract Article PDF–5.9M

Select item 92377496.

The role of BAG3 in dilated cardiomyopathy and its association with Charcot-Marie-Tooth disease type 2

Nitya Yerabandi, Valentina L. Kouznetsova, Santosh Kesari, Igor F. Tsigelny

Acta Myol. 2022 Jun; 41(2): 59–75. Published online 2022 Jun 30. doi: 10.36185/2532-1900-071

PMCID:: PMC9237749

Abstract Article PDF–1.3M

Select item 89493977.

Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea

Si On Lim, Na Young Jung, Ah Jin Lee, Hee Ji Choi, Hye Mi Kwon, Wonseok Son, Soo Hyun Nam, Byung-Ok Choi, Ki Wha Chung

Genes (Basel) 2022 Mar; 13(3): 462. Published online 2022 Mar 5. doi: 10.3390/genes13030462

PMCID:: PMC8949397

Abstract Article PDF–1.9M

Select item 88427578.

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea

J Neuromuscul Dis. 2022; 9(1): 193–210. Prepublished online 2021 Sep 24. Published online 2022 Jan 4. doi: 10.3233/JND-210652

PMCID:: PMC8842757

Abstract Article PDF–779K

Select item 73326139.

Small heat shock proteins in neurodegenerative diseases

Leen Vendredy, Elias Adriaenssens, Vincent Timmerman

Cell Stress Chaperones. 2020 Jul; 25(4): 679–699. Published online 2020 Apr 22. doi: 10.1007/s12192-020-01101-4

PMCID:: PMC7332613

Abstract Article PDF–1.9M

Select item 726018910.

BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes

Elias Adriaenssens, Barbara Tedesco, Laura Mediani, Bob Asselbergh, Valeria Crippa, Francesco Antoniani, Serena Carra, Angelo Poletti, Vincent Timmerman

Sci Rep. 2020; 10: 8755. Published online 2020 May 29. doi: 10.1038/s41598-020-65664-z

PMCID:: PMC7260189

Abstract Article PDF–12M

Select item 577684411.

Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth

Xin Zhao, Ming-Ming Jiang, Yi-Zhou Yan, Lei Liu, Yong-Zhi Xie, Xiao-Bo Li, Zheng-Mao Hu, Xiao-Hong Zi, Kun Xia, Bei-Sha Tang, Ru-Xu Zhang

Chin Med J (Engl) 2018 Jan 20; 131(2): 151–155. doi: 10.4103/0366-6999.222331

PMCID:: PMC5776844

Abstract Article PDF–674K

Select item 575627612.

A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8

Delphine Bouhy, Manisha Juneja, Istvan Katona, Anne Holmgren, Bob Asselbergh, Vicky De Winter, Tino Hochepied, Steven Goossens, Jody J. Haigh, Claude Libert, Chantal Ceuterick-de Groote, Joy Irobi, Joachim Weis, Vincent Timmerman

Acta Neuropathol. 2018; 135(1): 131–148. Published online 2017 Aug 5. doi: 10.1007/s00401-017-1756-0

PMCID:: PMC5756276

Abstract Article PDF–4.1M

Select item 477608913.

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

Roula Ghaoui, Johanna Palmio, Janice Brewer, Monkol Lek, Merrilee Needham, Anni Evilä, Peter Hackman, Per-Harald Jonson, Sini Penttilä, Anna Vihola, Sanna Huovinen, Mikaela Lindfors, Ryan L. Davis, Leigh Waddell, Simran Kaur, Con Yiannikas, Kathryn North, Nigel Clarke, Daniel G. MacArthur, Carolyn M. Sue, Bjarne Udd

Neurology. 2016 Jan 26; 86(4): 391–398. doi: 10.1212/WNL.0000000000002324

Correction in:: Neurology. 2016 Mar 15; 86(11): 1077.

PMCID:: PMC4776089

Abstract Article PDF–910K

Select item 324278314.

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

Abstract Article PDF–557K

Select item 300661415.

Abnormal interaction of motor neuropathy-associated mutant HspB8 (Hsp22) forms with the RNA helicase Ddx20 (gemin3)

Xiankui Sun, Jean-Marc Fontaine, Adam D. Hoppe, Serena Carra, Cheryl DeGuzman, Jody L. Martin, Stephanie Simon, Patrick Vicart, Michael J. Welsh, Jacques Landry, Rainer Benndorf

Cell Stress Chaperones. 2010 Sep; 15(5): 567–582. Published online 2010 Feb 17. doi: 10.1007/s12192-010-0169-y

PMCID:: PMC3006614

Abstract Article PDF–697K

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PMC Articles for MedGen (Select 324826) (15)
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txid88149[Subtree] (2)
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1311152[uid] (1)
Taxonomy
Symbiont type-X Acyrthosiphon pisum isolate S2_23 16S ribosomal RNA gene, partia...
Symbiont type-X Acyrthosiphon pisum isolate S2_23 16S ribosomal RNA gene, partial sequence
gi|758902356|gb|KP710448.1|

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Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1C

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