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Items: 9

1.
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
AbstractArticlePDF–2.3M
2.
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
AbstractArticlePDF–910K
3.
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases
Alberto A Zambon, Veronica Pini, Luca Bosco, Yuri M Falzone, Pinki Munot, Francesco Muntoni, Stefano C Previtali
Brain. 2023 Mar; 146(3): 806–822. Published online 2022 Nov 29. doi: 10.1093/brain/awac452
PMCID:
PMC9976982
AbstractArticlePDF–816K
4.
Aberrant Mitochondrial Dynamics and Exacerbated Response to Neuroinflammation in a Novel Mouse Model of CMT2A
Filippos Stavropoulos, Irene Sargiannidou, Louiza Potamiti, Alexia Kagiava, Mihalis I. Panayiotidis, Ji Hyun Bae, Su Cheong Yeom, Jae Young Lee, Kleopas A. Kleopa
Int J Mol Sci. 2021 Nov; 22(21): 11569. Published online 2021 Oct 26. doi: 10.3390/ijms222111569
PMCID:
PMC8584238
AbstractArticlePDF–6.8M
5.
Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A
Antonietta Franco, Xiawei Dang, Emily K Walton, Joshua N Ho, Barbara Zablocka, Cindy Ly, Timothy M Miller, Robert H Baloh, Michael E Shy, Andrew S Yoo, Gerald W Dorn, II
eLife. 2020; 9: e61119. Published online 2020 Oct 19. doi: 10.7554/eLife.61119
PMCID:
PMC7655101
AbstractArticlePDF–6.2M
6.
Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V
Christian Beetz, Thomas R. Pieber, Nicole Hertel, Maria Schabhüttl, Carina Fischer, Slave Trajanoski, Elisabeth Graf, Silke Keiner, Ingo Kurth, Thomas Wieland, Rita-Eva Varga, Vincent Timmerman, Mary M. Reilly, Tim M. Strom, Michaela Auer-Grumbach
Am J Hum Genet. 2012 Jul 13; 91(1): 139–145. doi: 10.1016/j.ajhg.2012.05.007
PMCID:
PMC3397265
AbstractArticlePDF–588K
7.
Mitofusin 2 Is Necessary for Transport of Axonal Mitochondria and Interacts with the Miro/Milton Complex
Albert Misko, Sirui Jiang, Iga Wegorzewska, Jeffrey Milbrandt, Robert H. Baloh
J Neurosci. 2010 Mar 24; 30(12): 4232–4240. doi: 10.1523/JNEUROSCI.6248-09.2010
PMCID:
PMC2852190
AbstractArticlePDF–1.9M
8.
Localization of the Gene for Distal Hereditary Motor Neuronopathy VII (dHMN-VII) to Chromosome 2q14
Meriel McEntagart, Nadine Norton, Hywel Williams, M. Dawn Teare, Melanie Dunstan, Philip Baker, Henry Houlden, Mary Reilly, Nick Wood, Peter S. Harper, P. Andrew Futreal, Nigel Williams, Nazneen Rahman
Am J Hum Genet. 2001 May; 68(5): 1270–1276. Published online 2001 Apr 4. doi: 10.1086/320122
PMCID:
PMC1226107
AbstractArticlePDF–141K
9.
Fig4 Deficiency: A Newly Emerged Lysosomal Storage Disorder?
Colin Martyn, Jun Li
Prog Neurobiol. Author manuscript; available in PMC 2014 Feb 1.
Published in final edited form as: Prog Neurobiol. 2013 Feb; 101-102: 35–45. Published online 2012 Nov 16. doi: 10.1016/j.pneurobio.2012.11.001
PMCID:
PMC3566336
AbstractArticlePDF–4.2M

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