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Timing of SMN replacement therapies in mouse models of spinal muscular atrophy: a systematic review and meta-analysis.
- Published in:
- Brain Communications, 2024, v. 6, n. 4, p. 1, doi. 10.1093/braincomms/fcae267
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- Publication type:
- Article
An Optimized Comparative Proteomic Approach as a Tool in Neurodegenerative Disease Research.
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- Cells (2073-4409), 2022, v. 11, n. 17, p. 2653, doi. 10.3390/cells11172653
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- Publication type:
- Article
Temporal Profiling of the Cortical Synaptic Mitochondrial Proteome Identifies Ageing Associated Regulators of Stability.
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- Cells (2073-4409), 2021, v. 10, n. 12, p. 3403, doi. 10.3390/cells10123403
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- Article
Targeting synaptic pathology in multiple sclerosis: fingolimod to the rescue?
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- British Journal of Pharmacology, 2012, v. 165, n. 4, p. 858, doi. 10.1111/j.1476-5381.2011.01612.x
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- Publication type:
- Article
Effect of Limb Lengthening on Internodal Length and Conduction Velocity of Peripheral Nerve.
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- Journal of Neuroscience, 2013, v. 33, n. 10, p. 4536, doi. 10.1523/JNEUROSCI.4176-12.2013
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- Publication type:
- Article
mGluR5 Regulates Glutamate-Dependent Development of the Mouse Somatosensory Cortex.
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- Journal of Neuroscience, 2008, v. 28, n. 49, p. 13028, doi. 10.1523/JNEUROSCI.2600-08.2008
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- Publication type:
- Article
The response of neuromuscular junctions to injury is developmentally regulated.
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- FASEB Journal, 2011, v. 25, n. 4, p. 1306, doi. 10.1096/fj.10-171934
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- Publication type:
- Article
Murine cathepsin D deficiency is associated with dysmyelination/myelin disruption and accumulation of cholesteryl esters in the brain.
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- Journal of Neurochemistry, 2010, v. 112, n. 1, p. 193, doi. 10.1111/j.1471-4159.2009.06440.x
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- Publication type:
- Article
The mitochondrial protein Sideroflexin 3 (SFXN3) influences neurodegeneration pathways in vivo.
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- FEBS Journal, 2022, v. 289, n. 13, p. 3894, doi. 10.1111/febs.16377
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- Publication type:
- Article
Quantitative tractography and tract shape modeling in amyotrophic lateral sclerosis.
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- Journal of Magnetic Resonance Imaging, 2013, v. 38, n. 5, p. 1140, doi. 10.1002/jmri.24073
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- Article
PTEN Depletion Decreases Disease Severity and Modestly Prolongs Survival in a Mouse Model of Spinal Muscular Atrophy.
- Published in:
- Molecular Therapy, 2015, v. 23, n. 2, p. 270, doi. 10.1038/mt.2014.209
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- Article
SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy.
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- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2235, doi. 10.1093/hmg/ddt612
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- Article
Altered maturation of the primary somatosensory cortex in a mouse model of fragile X syndrome.
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- Human Molecular Genetics, 2012, v. 21, n. 10, p. 2143, doi. 10.1093/hmg/dds030
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- Publication type:
- Article
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy.
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- Human Molecular Genetics, 2011, v. 20, n. 22, p. 4334, doi. 10.1093/hmg/ddr360
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- Publication type:
- Article
ApoE isoform-specific regulation of regeneration in the peripheral nervous system.
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- Human Molecular Genetics, 2011, v. 20, n. 12, p. 2406, doi. 10.1093/hmg/ddr147
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- Publication type:
- Article
SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy.
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- Human Molecular Genetics, 2010, v. 19, n. 21, p. 4216, doi. 10.1093/hmg/ddq340
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- Publication type:
- Article
Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy.
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- Human Molecular Genetics, 2010, v. 19, n. 3, p. 420, doi. 10.1093/hmg/ddp506
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- Publication type:
- Article
Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.
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- Human Molecular Genetics, 2009, v. 18, n. 21, p. 4066, doi. 10.1093/hmg/ddp355
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- Publication type:
- Article
VAPB interacts with and modulates the activity of ATF6.
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- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1517, doi. 10.1093/hmg/ddn040
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- Publication type:
- Article
Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy.
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- Human Molecular Genetics, 2008, v. 17, n. 7, p. 949, doi. 10.1093/hmg/ddm367
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- Publication type:
- Article
The neuroprotective WldS gene regulates expression of PTTG1 and erythroid differentiation regulator 1-like gene in mice and human cells.
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- Human Molecular Genetics, 2006, v. 15, n. 4, p. 625, doi. 10.1093/hmg/ddi478
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- Publication type:
- Article
Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy.
- Published in:
- Drugs, 2018, v. 78, n. 3, p. 293, doi. 10.1007/s40265-018-0868-8
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- Publication type:
- Article
Corrigendum: Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system.
- Published in:
- Nature Communications, 2017, v. 8, n. 9, p. 16158, doi. 10.1038/ncomms16158
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- Publication type:
- Article
Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system.
- Published in:
- Nature Communications, 2015, v. 6, n. 4, p. 6761, doi. 10.1038/ncomms7761
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- Publication type:
- Article
A method to identify, dissect and stain equine neuromuscular junctions for morphological analysis.
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- Journal of Anatomy, 2022, v. 241, n. 5, p. 1133, doi. 10.1111/joa.13747
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- Article
Anatomical, functional and biomechanical review of the glenoid labrum.
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- Journal of Anatomy, 2022, v. 240, n. 4, p. 761, doi. 10.1111/joa.13582
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- Publication type:
- Article
Neutralisation of SARS‐CoV‐2 by anatomical embalming solutions.
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- Journal of Anatomy, 2021, v. 239, n. 5, p. 1221, doi. 10.1111/joa.13549
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- Publication type:
- Article
Comparative anatomy of the mammalian neuromuscular junction.
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- Journal of Anatomy, 2020, v. 237, n. 5, p. 827, doi. 10.1111/joa.13260
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- Article
COVID‐19 and anatomy: Stimulus and initial response.
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- Journal of Anatomy, 2020, v. 237, n. 3, p. 393, doi. 10.1111/joa.13274
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- Article
Developmental and degenerative cardiac defects in the Taiwanese mouse model of severe spinal muscular atrophy.
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- Journal of Anatomy, 2018, v. 232, n. 6, p. 965, doi. 10.1111/joa.12793
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- Article
Survival of motor neurone protein is required for normal postnatal development of the spleen.
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- Journal of Anatomy, 2017, v. 230, n. 2, p. 337, doi. 10.1111/joa.12546
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- Article
Selective loss of alpha motor neurons with sparing of gamma motor neurons and spinal cord cholinergic neurons in a mouse model of spinal muscular atrophy.
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- Journal of Anatomy, 2016, v. 228, n. 3, p. 443, doi. 10.1111/joa.12419
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- Article
Using induced pluripotent stem cells (iPSC) to model human neuromuscular connectivity: promise or reality?
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- Journal of Anatomy, 2012, v. 220, n. 2, p. 122, doi. 10.1111/j.1469-7580.2011.01459.x
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- Article
Axotomy-dependent and -independent synapse elimination in organ cultures of Wld<sup>s</sup> mutant mouse skeletal muscle.
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- Journal of Neuroscience Research, 2004, v. 76, n. 1, p. 64, doi. 10.1002/jnr.20016
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- Publication type:
- Article
Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA.
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- Frontiers in Molecular Neuroscience, 2019, p. N.PAG, doi. 10.3389/fnmol.2019.00059
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- Article
UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy.
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- 2018
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- Publication type:
- journal article
Emerging therapies and challenges in spinal muscular atrophy.
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- 2017
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- Publication type:
- journal article
Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy.
- Published in:
- 2016
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- Publication type:
- journal article
An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD.
- Published in:
- Acta Neuropathologica, 2022, v. 144, n. 3, p. 437, doi. 10.1007/s00401-022-02470-z
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- Publication type:
- Article
Region-specific depletion of synaptic mitochondria in the brains of patients with Alzheimer’s disease.
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- Acta Neuropathologica, 2018, v. 136, n. 5, p. 747, doi. 10.1007/s00401-018-1903-2
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- Publication type:
- Article
Synapse loss in the prefrontal cortex is associated with cognitive decline in amyotrophic lateral sclerosis.
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- Acta Neuropathologica, 2018, v. 135, n. 2, p. 213, doi. 10.1007/s00401-017-1797-4
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- Publication type:
- Article
Age-related motor neuron degeneration in DNA repair-deficient Ercc1 mice.
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- Acta Neuropathologica, 2010, v. 120, n. 4, p. 461, doi. 10.1007/s00401-010-0715-9
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- Publication type:
- Article
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1519, doi. 10.1002/acn3.50855
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- Publication type:
- Article
Post-mortem brain analyses of the Lothian Birth Cohort 1936: extending lifetime cognitive and brain phenotyping to the level of the synapse.
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- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0232-0
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- Publication type:
- Article
Molecular neuropathology of the synapse in sheep with CLN5 Batten disease.
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- Brain & Behavior, 2015, v. 5, n. 11, p. 1, doi. 10.1002/brb3.401
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- Publication type:
- Article
Proteomic profiling of neuronal mitochondria reveals modulators of synaptic architecture.
- Published in:
- Molecular Neurodegeneration, 2017, v. 12, p. 1, doi. 10.1186/s13024-017-0221-9
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- Publication type:
- Article
Combining Comparative Proteomics and Molecular Genetics Uncovers Regulators of Synaptic and Axonal Stability and Degeneration In Vivo.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 8, p. 1, doi. 10.1371/journal.pgen.1002936
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- Publication type:
- Article
Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy.
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- PLoS Genetics, 2009, v. 5, n. 12, p. 1, doi. 10.1371/journal.pgen.1000773
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- Publication type:
- Article
Loss of Glial Neurofascin 155 Delays Developmental Synapse Elimination at the Neuromuscular Junction.
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- Journal of Neuroscience, 2014, v. 34, n. 38, p. 12904, doi. 10.1523/JNEUROSCI.1725-14.2014
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- Publication type:
- Article
A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland.
- Published in:
- Scottish Medical Journal, 2022, v. 67, n. 1, p. 46, doi. 10.1177/00369330221078994
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- Publication type:
- Article