Found: 49
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Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
- Published in:
- 2015
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- Publication type:
- journal article
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy.
- Published in:
- 2007
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- Publication type:
- journal article
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
- Published in:
- Nature Genetics, 2010, v. 42, n. 2, p. 170, doi. 10.1038/ng.512
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- Publication type:
- Article
A motor neuron disease-associated mutation in p150<sup>Glued</sup> perturbs dynactin function and induces protein aggregation.
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- Journal of Cell Biology, 2006, v. 172, n. 5, p. 733, doi. 10.1083/jcb.200511068
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- Publication type:
- Article
Crosstalk between regulatory elements in disordered TRPV4 N-terminus modulates lipid-dependent channel activity.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39808-4
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- Publication type:
- Article
TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39345-0
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- Publication type:
- Article
Improvement of Neuromuscular Synaptic Phenotypes without Enhanced Survival and Motor Function in Severe Spinal Muscular Atrophy Mice Selectively Rescued in Motor Neurons.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075866
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- Publication type:
- Article
A novel cell immunoassay to measure survival of motor neurons protein in blood cells.
- Published in:
- BMC Neurology, 2006, v. 6, p. 6, doi. 10.1186/1471-2377-6-6
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- Publication type:
- Article
Whole-body MR neurography: Prospective feasibility study in polyneuropathy and Charcot-Marie-Tooth disease.
- Published in:
- 2016
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- Publication type:
- journal article
Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice.
- Published in:
- Journal of Neuroscience, 2009, v. 29, n. 3, p. 842, doi. 10.1523/JNEUROSCI.4434-08.2009
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- Publication type:
- Article
Sciatic nerve tumor and tumor-like lesions - uncommon pathologies.
- Published in:
- 2012
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- Publication type:
- journal article
Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01551-8
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- Publication type:
- Article
A reassessment of spinal cord pathology in severe infantile spinal muscular atrophy.
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- Neuropathology & Applied Neurobiology, 2024, v. 50, n. 5, p. 1, doi. 10.1111/nan.13013
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- Publication type:
- Article
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 6, p. 1798, doi. 10.1093/brain/awq109
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- Publication type:
- Article
The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases.
- Published in:
- Molecular Systems Biology, 2020, v. 16, n. 12, p. 1, doi. 10.15252/msb.20209701
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- Publication type:
- Article
Assuring long-term safety of highly effective gene-modulating therapeutics for rare diseases.
- Published in:
- 2021
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- Publication type:
- journal article
Equity and diversity in academic medicine: a perspective from the JCI editors.
- Published in:
- 2019
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- Publication type:
- journal article
Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain.
- Published in:
- 2018
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- Publication type:
- journal article
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 937, doi. 10.3233/JND-230054
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- Publication type:
- Article
TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function.
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- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 3, p. 375, doi. 10.1002/acn3.51523
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- Publication type:
- Article
Dominant collagen XII mutations cause a distal myopathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 10, p. 1980, doi. 10.1002/acn3.50882
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- Publication type:
- Article
Neurofilament as a potential biomarker for spinal muscular atrophy.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 932, doi. 10.1002/acn3.779
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- Publication type:
- Article
Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
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- Annals of Neurology, 2023, v. 93, n. 3, p. 563, doi. 10.1002/ana.26518
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- Publication type:
- Article
TRPV4 Antagonism Prevents Mechanically Induced Myotonia.
- Published in:
- 2020
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- Publication type:
- journal article
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
- Published in:
- 2019
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- Publication type:
- journal article
Sustained improvement of spinal muscular atrophy mice treated with trichostatin a plus nutrition.
- Published in:
- Annals of Neurology, 2008, v. 64, n. 4, p. 465, doi. 10.1002/ana.21449
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- Publication type:
- Article
Targeting splicing in spinal muscular atrophy.
- Published in:
- Annals of Neurology, 2008, v. 63, n. 1, p. 3, doi. 10.1002/ana.21305
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- Publication type:
- Article
Distal spinal and bulbar muscular atrophy caused by dynactin mutation.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 5, p. 687
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- Publication type:
- Article
Valproic acid increases SMN levels in spinal muscular atrophy patient cells (This article is a US Government work and, as such, is in the public domain in the United States of America.).
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- Annals of Neurology, 2003, v. 54, n. 5, p. 647
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- Publication type:
- Article
Genetics and genomic medicine in Mali: challenges and future perspectives.
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- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 2, p. 126, doi. 10.1002/mgg3.212
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- Publication type:
- Article
Genetic approaches to the treatment of inherited neuromuscular diseases.
- Published in:
- Human Molecular Genetics, 2019, v. 28, p. R55, doi. 10.1093/hmg/ddz131
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- Publication type:
- Article
Motor neuron loss in SMA is not associated with somal stress-activated JNK/c-Jun signaling.
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- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3282, doi. 10.1093/hmg/ddz150
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- Publication type:
- Article
Astrocytes influence the severity of spinal muscular atrophy.
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- Human Molecular Genetics, 2015, v. 24, n. 14, p. 4094, doi. 10.1093/hmg/ddv148
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- Publication type:
- Article
Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics.
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- Human Molecular Genetics, 2014, v. 23, n. 18, p. 4745, doi. 10.1093/hmg/ddu189
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- Article
The DcpS inhibitor RG3039 improves motor function in SMA mice.
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- Human Molecular Genetics, 2013, v. 22, n. 20, p. 4074, doi. 10.1093/hmg/ddt257
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- Publication type:
- Article
Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice.
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- Human Molecular Genetics, 2012, v. 21, n. 20, p. 4448, doi. 10.1093/hmg/dds286
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- Publication type:
- Article
Increased IGF-1 in muscle modulates the phenotype of severe SMA mice.
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- Human Molecular Genetics, 2011, v. 20, n. 9, p. 1844, doi. 10.1093/hmg/ddr067
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- Publication type:
- Article
Prenatal Somatic Cell Gene Therapies: Charting a Path Toward Clinical Applications (Proceedings of the CERSI‐FDA Meeting).
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- Journal of Clinical Pharmacology, 2022, v. 62, p. S36, doi. 10.1002/jcph.2127
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- Publication type:
- Article
Molecular Mechanisms of Spinal Muscular Atrophy.
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- Journal of Child Neurology, 2007, v. 22, n. 8, p. 979, doi. 10.1177/0883073807305787
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- Publication type:
- Article
Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy.
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- Prenatal Diagnosis, 2022, v. 42, n. 11, p. 1409, doi. 10.1002/pd.6228
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- Publication type:
- Article
Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 17, p. 3145, doi. 10.1093/hmg/ddp253
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- Publication type:
- Article
The role of histone acetylation in SMN gene expression.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 9, p. 1171, doi. 10.1093/hmg/ddi130
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- Publication type:
- Article
TRPV4: A trigger of pathological RhoA activation in neurological disease.
- Published in:
- BioEssays, 2022, v. 44, n. 6, p. 1, doi. 10.1002/bies.202100288
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- Publication type:
- Article
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice.
- Published in:
- Science Translational Medicine, 2024, v. 16, n. 748, p. 1, doi. 10.1126/scitranslmed.adk1358
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- Publication type:
- Article
Spinal muscular atrophy, John Griffin, and mentorship.
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- Journal of the Peripheral Nervous System, 2012, v. 17, p. 52, doi. 10.1111/j.1529-8027.2012.00432.x
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- Publication type:
- Article
Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21699-y
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- Publication type:
- Article
TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2+.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16411-5
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- Publication type:
- Article
Non-Aggregating Tau Phosphorylation by Cyclin-Dependent Kinase 5 Contributes to Motor Neuron Degeneration in Spinal Muscular Atrophy.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 15, p. 6038, doi. 10.1523/JNEUROSCI.3716-14.2015
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- Publication type:
- Article
Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy.
- Published in:
- Journal of Neuroscience, 2012, v. 32, n. 25, p. 8703, doi. 10.1523/JNEUROSCI.0204-12.2012
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- Publication type:
- Article