Works matching DE "GENETICS of amyotrophic lateral sclerosis"
Results: 204
Slowly Progressive Familial Amyotrophic Lateral Sclerosis: G93C Variant of Superoxide Dismutase 1 Mutation.
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- Journal of the Indian Academy of Clinical Medicine, 2024, v. 25, n. 4, p. 211
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- Article
Health Agencies Update.
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- JAMA: Journal of the American Medical Association, 2014, v. 311, n. 16, p. 1603, doi. 10.1001/jama.2014.4501
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- Publication type:
- Article
C9orf72’s Interaction with Rab GTPases—Modulation of Membrane Traffic and Autophagy.
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- Frontiers in Cellular Neuroscience, 2016, v. 10, p. 1, doi. 10.3389/fncel.2016.00228
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- Article
Adeno Associated Viral Vector Delivered RNAi for Gene Therapy of SOD1 Amyotrophic Lateral Sclerosis.
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- Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2016.00056
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- Article
Selective Motor Neuron Resistance and Recovery in a New Inducible Mouse Model of TDP-43 Proteinopathy.
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- Journal of Neuroscience, 2016, v. 36, n. 29, p. 7707, doi. 10.1523/JNEUROSCI.1457-16.2016
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- Publication type:
- Article
Profilin 1 Associates with Stress Granules and ALS-Linked Mutations Alter Stress Granule Dynamics.
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- Journal of Neuroscience, 2014, v. 34, n. 24, p. 8083, doi. 10.1523/JNEUROSCI.0543-14.2014
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- Publication type:
- Article
Differential expression of 14 genes in amyotrophic lateral sclerosis spinal cord detected using gridded cDNA arrays.
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- Journal of Neurochemistry, 2001, v. 77, n. 1, p. 132, doi. 10.1046/j.1471-4159.2001.00231.x
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- Article
The protective effect of growth hormone on Cu/Zn superoxide dismutase-mutant motor neurons.
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- BMC Neuroscience, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12868-015-0140-z
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- Article
FUS gene mutations associated with familiar forms of amyotrophic lateral sclerosis affect cellular localization and aggregation properties of the encoded protein.
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- Doklady Biochemistry & Biophysics, 2011, v. 438, n. 1, p. 123, doi. 10.1134/S1607672911030045
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- Article
Motor-neuron disease: Rogue gene in the family.
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- Nature, 2009, v. 458, n. 7237, p. 415, doi. 10.1038/458415a
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- Article
Motor neuron disease: The curious ways of ALS.
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- Nature, 2008, v. 454, n. 7202, p. 284, doi. 10.1038/454284a
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- Article
A diacidic motif determines unconventional secretion of wild-type and ALS-linked mutant SOD1.
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- Journal of Cell Biology, 2017, v. 216, n. 9, p. 2691, doi. 10.1083/jcb.201704056
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- Article
The FIG4 gene does not play a major role in causing ALS in Italian patients.
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- Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 3/4, p. 228, doi. 10.3109/21678421.2012.760605
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- Article
Genetic link between KIF1A mutations and amyotrophic lateral sclerosis: evidence from whole-exome sequencing.
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- Frontiers in Aging Neuroscience, 2024, p. 1, doi. 10.3389/fnagi.2024.1421841
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- Publication type:
- Article
A Neglected Gene: The Role of the ANG Gene in the Pathogenesis of Amyotrophic Lateral Sclerosis.
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- Aging & Disease, 2025, v. 16, n. 1, p. 13, doi. 10.14336/AD.2024.0107
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- Article
Amyotrophic lateral sclerosis causes small fiber pathology.
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- European Journal of Neurology, 2016, v. 23, p. 416, doi. 10.1111/ene.12936
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- Article
Deregulated expression of cytoskeleton related genes in the spinal cord and sciatic nerve of presymptomatic SOD1<sup>G93A</sup> Amyotrophic Lateral Sclerosis mouse model.
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- Frontiers in Cellular Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fncel.2014.00148
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- Article
The ER mitochondria calcium cycle and ER stress response as therapeutic targets in amyotrophic lateral sclerosis.
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- Frontiers in Cellular Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fncel.2014.00147
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- Publication type:
- Article
The role of miRNA in motor neuron disease.
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- Frontiers in Cellular Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fncel.2014.00015
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- Publication type:
- Article
Rapidly Progressive ALS with Atypical Parkinsonism: An Unusual Case of Multisystem Proteinopathy from India.
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- 2023
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- Publication type:
- Case Study
Amyotrophic Lateral Sclerosis with a ‘Pseudo-Infarction’ Pattern on the Electrocardiograph.
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- Cardiology, 2000, v. 93, n. 1/2, p. 133, doi. 10.1159/000007016
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- Publication type:
- Article
Human SOD1 ALS Mutations in a Drosophila Knock-In Model Cause Severe Phenotypes and Reveal Dosage-Sensitive Gain- and Loss-of-Function Components.
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- Genetics, 2017, v. 205, n. 2, p. 707, doi. 10.1534/genetics.116.190850
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- Publication type:
- Article
RNA Dysregulation in Amyotrophic Lateral Sclerosis.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00712
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- Article
Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis.
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- Journal of Human Genetics, 2011, v. 56, n. 3, p. 247, doi. 10.1038/jhg.2010.162
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- Article
Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.
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- Nature Neuroscience, 2015, v. 18, n. 8, p. 1175, doi. 10.1038/nn.4065
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- Article
Genetic Association between Amyotrophic Lateral Sclerosis and Cancer.
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- Genes, 2017, v. 8, n. 10, p. 243, doi. 10.3390/genes8100243
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- Article
Ataxin-2: From RNA Control to Human Health and Disease.
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- Genes, 2017, v. 8, n. 6, p. 157, doi. 10.3390/genes8060157
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- Article
Nucleocytoplasmic transport in C9orf72- mediated ALS/FTD.
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- Nucleus (1949-1034), 2016, v. 7, n. 2, p. 132, doi. 10.1080/19491034.2016.1172152
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- Article
Scientists discover a new genetic form of ALS in children.
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- Neonatology Today, 2021, v. 16, n. 6, p. 124
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- Article
Identification of plasma microRNAs as a biomarker of sporadic Amyotrophic Lateral Sclerosis.
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- Molecular Brain, 2015, v. 8, p. 1, doi. 10.1186/s13041-015-0161-7
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- Article
Up-regulation of neural and cell cycle-related microRNAs in brain of amyotrophic lateral sclerosis mice at late disease stage.
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- Molecular Brain, 2015, v. 8, n. 1, p. 104, doi. 10.1186/s13041-015-0095-0
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- Article
Altered microRNA expression profile in amyotrophic lateral sclerosis: a role in the regulation of NFL mRNA levels.
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- Molecular Brain, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-6606-6-26
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- Article
Cytoplasmic mislocalization of RNA splicing factors and aberrant neuronal gene splicing in TDP-43 transgenic pig brain.
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- Molecular Neurodegeneration, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13024-015-0036-5
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- Article
Genetics of amyotrophic lateral sclerosis: an update.
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- Molecular Neurodegeneration, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1326-8-28
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- Article
Modeling the C9ORF72 repeat expansion mutation using human induced pluripotent stem cells.
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- Brain Pathology, 2017, v. 27, n. 4, p. 518, doi. 10.1111/bpa.12520
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- Article
New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.
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- Brain Pathology, 2016, v. 26, n. 2, p. 266, doi. 10.1111/bpa.12354
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- Article
Lifetime Risk and Heritability of Amyotrophic Lateral Sclerosis.
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- Neurology Alert, 2020, v. 39, n. 6, p. N.PAG
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- Article
Gene-reading defect linked to ALS.
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- Patient Care (Print), 1998, v. 32, n. 18, p. 14
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- Article
Neurodegenerative disease: Expanding neurodegeneration modelling.
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- Nature Reviews Neuroscience, 2015, v. 16, n. 7, p. 376, doi. 10.1038/nrn3982
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- Article
Molecular biology of amyotrophic lateral sclerosis: insights from genetics.
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- 2006
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- Publication type:
- journal article
From the editors.
- Published in:
- 2006
- Publication type:
- Editorial
Spread of pathology in amyotrophic lateral sclerosis: assessment of phosphorylated TDP-43 along axonal pathways.
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- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0226-y
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- Article
ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation.
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- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0235-x
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- Article
Advances on the genetic mechanism of amyotrophic lateral sclerosis.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2023, v. 23, n. 3, p. 264, doi. 10.3969/j.issn.1672-6731.2023.03.017
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- Article
Familial amyotrophic lateral sclerosis with FUS gene mutation: one case report.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2021, v. 21, n. 6, p. 473, doi. 10.3969/j.issn.1672-6731.2021.06.008
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- Article
Acidotoxicity and acid-sensing ion channels contribute to motoneuron degeneration.
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- Cell Death & Differentiation, 2013, v. 20, n. 4, p. 589, doi. 10.1038/cdd.2012.158
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- Publication type:
- Article
Circadian Rhythm Dysfunction Accelerates Disease Progression in a Mouse Model With Amyotrophic Lateral Sclerosis.
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- Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2018.00218
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- Publication type:
- Article
Identification of Interacting Genes in Genome-Wide Association Studies Using a Model-Based Two-Stage Approach.
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- Annals of Human Genetics, 2010, v. 74, n. 5, p. 406, doi. 10.1111/j.1469-1809.2010.00594.x
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- Article
Wnt Signaling Alteration in the Spinal Cord of Amyotrophic Lateral Sclerosis Transgenic Mice: Special Focus on Frizzled-5 Cellular Expression Pattern.
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- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0155867
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- Article
Motor Neurone Disease (MND/ALS) among Maltese in Malta and Australia: many sporadic cases were related.
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- Malta Medical Journal, 2014, v. 26, n. 4, p. 21
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- Publication type:
- Article