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Mitofusin 1 overexpression rescues the abnormal mitochondrial dynamics caused by the Mitofusin 2 K357T mutation in vitro.
- Published in:
- Journal of the Peripheral Nervous System, 2023, v. 28, n. 3, p. 329, doi. 10.1111/jns.12564
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- Publication type:
- Article
Mitochondrial Dynamics and Peripheral Neuropathy.
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- Neuroscientist, 2008, v. 14, n. 1, p. 12, doi. 10.1177/1073858407307354
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- Publication type:
- Article
Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation.
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- Cells (2073-4409), 2022, v. 11, n. 6, p. 1053, doi. 10.3390/cells11061053
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- Publication type:
- Article
Mitofusin2 Mutations Disrupt Axonal Mitochondrial Positioning and Promote Axon Degeneration.
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- Journal of Neuroscience, 2012, v. 32, n. 12, p. 4145, doi. 10.1523/JNEUROSCI.6338-11.2012
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- Publication type:
- Article
Schwann Cell Mitochondrial Metabolism Supports Long-Term Axonal Survival and Peripheral Nerve Function.
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- Journal of Neuroscience, 2011, v. 31, n. 28, p. 10128, doi. 10.1523/JNEUROSCI.0884-11.2011
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- Publication type:
- Article
Mitofusin 2 Is Necessary for Transport of Axonal Mitochondria and Interacts with the Miro/Milton Complex.
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- Journal of Neuroscience, 2010, v. 30, n. 12, p. 4232, doi. 10.1523/JNEUROSCI.6248-09.2010
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- Publication type:
- Article
Transgenic Mice Expressing the Nmnat1 Protein Manifest Robust Delay in Axonal Degeneration In Vivo.
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- Journal of Neuroscience, 2009, v. 29, n. 20, p. 6526, doi. 10.1523/JNEUROSCI.1429-09.2009
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- Publication type:
- Article
Congenital Hypomyelinating Neuropathy with Lethal Conduction Failure in Mice Carrying the Egr2 I268N Mutation.
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- Journal of Neuroscience, 2009, v. 29, n. 8, p. 2312, doi. 10.1523/JNEUROSCI.2168-08.2009
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- Publication type:
- Article
Congenital Hypomyelinating Neuropathy with Lethal Conduction Failure in Mice Carrying the Egr2 I268N Mutation.
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- Journal of Neuroscience, 2008, p. 2312, doi. 10.1523/JNEUROSCI.2168-08.2009
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- Publication type:
- Article
Misexpression of Pou3f1 Results in Peripheral Nerve Hypomyelination and Axonal Loss.
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- Journal of Neuroscience, 2007, v. 27, n. 43, p. 11552, doi. 10.1523/JNEUROSCI.5497-06.2007
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- Publication type:
- Article
Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease.
- Published in:
- FASEB Journal, 2012, v. 26, n. 3, p. 1194, doi. 10.1096/fj.11-196345
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- Publication type:
- Article
Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease.
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- Journal of Cell Biology, 2009, v. 187, n. 6, p. 875, doi. 10.1083/jcb.200908115
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- Publication type:
- Article
Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones.
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- Human Molecular Genetics, 2014, v. 23, n. 1, p. 157, doi. 10.1093/hmg/ddt408
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- Publication type:
- Article
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
- Published in:
- 2016
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- Publication type:
- journal article
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.
- Published in:
- Annals of Neurology, 2015, v. 77, n. 1, p. 100, doi. 10.1002/ana.24306
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- Publication type:
- Article
Inflammation in ALS/FTD pathogenesis.
- Published in:
- Acta Neuropathologica, 2019, v. 137, n. 5, p. 715, doi. 10.1007/s00401-018-1933-9
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- Publication type:
- Article
Cell transplantation strategies for acquired and inherited disorders of peripheral myelin.
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- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 2, p. 186, doi. 10.1002/acn3.517
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- Article
Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A.
- Published in:
- eLife, 2020, p. 1, doi. 10.7554/eLife.61119
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- Publication type:
- Article
TDP-43-Based Animal Models of Neurodegeneration: New Insights into ALS Pathology and Pathophysiology.
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- Neurodegenerative Diseases, 2011, v. 8, n. 4, p. 262, doi. 10.1159/000321547
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- Publication type:
- Article
P3-287: TDP-43 A315T mutation in familial motor neuron disease
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- 2008
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- Publication type:
- Abstract
Expression of neurturin, GDNF, and their receptors in the adult mouse CNS.
- Published in:
- Journal of Comparative Neurology, 1998, v. 398, n. 1, p. 139, doi. 10.1002/(SICI)1096-9861(19980817)398:1<139::AID-CNE9>3.0.CO;2-2
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- Publication type:
- Article
Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations.
- Published in:
- Nature Cell Biology, 2011, v. 13, n. 9, p. 1116, doi. 10.1038/ncb2301
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- Publication type:
- Article
Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion.
- Published in:
- Science Translational Medicine, 2013, v. 5, n. 208, p. 1, doi. 10.1126/scitranslmed.3007529
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- Publication type:
- Article
Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model.
- Published in:
- 2021
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- Publication type:
- journal article
Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model.
- Published in:
- 2019
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- Publication type:
- journal article
Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia.
- Published in:
- 2017
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- Publication type:
- journal article
Effect of Ezogabine on Cortical and Spinal Motor Neuron Excitability in Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial.
- Published in:
- JAMA Neurology, 2021, v. 78, n. 2, p. 186, doi. 10.1001/jamaneurol.2020.4300
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- Publication type:
- Article
Altered Axonal Mitochondrial Transport in the Pathogenesis of Charcot-Marie-Tooth Disease from Mitofusin 2 Mutations.
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- Journal of Neuroscience, 2007, v. 27, n. 2, p. 20, doi. 10.1523/JNEUROSCI.4798-06.2007
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- Publication type:
- Article
Neural crest‐derived mesenchymal progenitor cells enhance cranial allograft integration.
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- Stem Cells Translational Medicine, 2021, v. 10, n. 5, p. 797, doi. 10.1002/sctm.20-0364
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- Publication type:
- Article
Low-Dose Irradiation Enhances Gene Targeting in Human Pluripotent Stem Cells.
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- Stem Cells Translational Medicine, 2015, v. 4, n. 9, p. 998, doi. 10.5966/sctm.2015-0050
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- Publication type:
- Article
Anemia, Paresthesias, and Gait Ataxia in a 57-Year-Old Denture Wearer.
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- Clinical Chemistry, 2011, v. 57, n. 8, p. 1103, doi. 10.1373/clinchem.2010.156364
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- Publication type:
- Article
Debamestrocel multimodal effects on biomarker pathways in amyotrophic lateral sclerosis are linked to clinical outcomes.
- Published in:
- Muscle & Nerve, 2024, v. 69, n. 6, p. 719, doi. 10.1002/mus.28093
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- Publication type:
- Article
A randomized placebo‐controlled phase 3 study of mesenchymal stem cells induced to secrete high levels of neurotrophic factors in amyotrophic lateral sclerosis.
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- Muscle & Nerve, 2022, v. 65, n. 3, p. 291, doi. 10.1002/mus.27472
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- Publication type:
- Article
Amyotrophic lateral sclerosis care and research in the United States during the COVID-19 pandemic: Challenges and opportunities.
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- 2020
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- Publication type:
- journal article
Addressing heterogeneity in amyotrophic lateral sclerosis CLINICAL TRIALS.
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- 2020
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- Publication type:
- journal article
Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis.
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- Muscle & Nerve, 2009, v. 40, n. 1, p. 19, doi. 10.1002/mus.21386
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- Publication type:
- Article
Frequent atrophic groups with mixed-type myofibers is distinctive to motor neuron syndromes.
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- Muscle & Nerve, 2007, v. 36, n. 1, p. 107, doi. 10.1002/mus.20755
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- Publication type:
- Article
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 3, p. 407, doi. 10.1002/ana.22683
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- Publication type:
- Article
TDP-43 A315T mutation in familial motor neuron disease.
- Published in:
- Annals of Neurology, 2008, v. 63, n. 4, p. 535, doi. 10.1002/ana.21344
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- Publication type:
- Article
TREM2 Variant p.R47H as a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis.
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- JAMA Neurology, 2014, v. 71, n. 4, p. 449, doi. 10.1001/jamaneurol.2013.6237
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- Publication type:
- Article
TDP-43: the relationship between protein aggregation and neurodegeneration in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
- Published in:
- FEBS Journal, 2011, v. 278, n. 19, p. 3539, doi. 10.1111/j.1742-4658.2011.08256.x
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- Publication type:
- Article