Works matching DE "GENETICS of amyotrophic lateral sclerosis"
Results: 204
Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.
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- Acta Neuropathologica, 2017, v. 134, n. 5, p. 715, doi. 10.1007/s00401-017-1760-4
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- Article
ALS and FTD: an epigenetic perspective.
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- Acta Neuropathologica, 2016, v. 132, n. 4, p. 487, doi. 10.1007/s00401-016-1587-4
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- Article
ALS mutant SOD1 interacts with G3BP1 and affects stress granule dynamics.
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- Acta Neuropathologica, 2016, v. 132, n. 4, p. 563, doi. 10.1007/s00401-016-1601-x
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- Article
Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion.
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- Acta Neuropathologica, 2014, v. 127, n. 3, p. 391, doi. 10.1007/s00401-014-1250-x
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Mechanisms of toxicity in C9FTLD/ALS.
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- Acta Neuropathologica, 2014, v. 127, n. 3, p. 359, doi. 10.1007/s00401-013-1237-z
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Coexistence of Huntington's disease and amyotrophic lateral sclerosis: a clinicopathologic study.
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- Acta Neuropathologica, 2012, v. 124, n. 5, p. 749, doi. 10.1007/s00401-012-1005-5
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Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism.
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- Acta Neuropathologica, 2012, v. 124, n. 5, p. 733, doi. 10.1007/s00401-012-1035-z
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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
Compound heterozygote mutations in the SIGMAR1 gene in an oldest‐old patient with amyotrophic lateral sclerosis.
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- Geriatrics & Gerontology International, 2018, v. 18, n. 10, p. 1519, doi. 10.1111/ggi.13506
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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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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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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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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
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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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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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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Expression of Carbonic Anhydrase I in Motor Neurons and Alterations in ALS.
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- International Journal of Molecular Sciences, 2016, v. 17, n. 11, p. 1820, doi. 10.3390/ijms17111820
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Dysfunction of Endocytic Kinase AAK1 in ALS.
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- International Journal of Molecular Sciences, 2014, v. 15, n. 12, p. 22918, doi. 10.3390/ijms151222918
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Small Molecules Present in the Cerebrospinal Fluid Metabolome Influence Superoxide Dismutase 1 Aggregation.
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- International Journal of Molecular Sciences, 2013, v. 14, n. 9, p. 19128, doi. 10.3390/ijms140919128
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Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice.
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- Journal of Clinical Investigation, 2011, v. 121, n. 2, p. 726, doi. 10.1172/JCI44867
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- Article
SOD1 silencing in motoneurons or glia rescues neuromuscular function in ALS mice.
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- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 2, p. 167, doi. 10.1002/acn3.162
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- Article
A4T Mutation in the SOD1 Gene Causing Familial Amyotrophic Lateral Sclerosis.
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- Neuroepidemiology, 2003, v. 22, n. 4, p. 235, doi. 10.1159/000070564
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GM604 regulates developmental neurogenesis pathways and the expression of genes associated with amyotrophic lateral sclerosis.
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- Translational Neurodegeneration, 2018, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40035-018-0135-7
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Environmental insults: critical triggers for amyotrophic lateral sclerosis.
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- Translational Neurodegeneration, 2017, v. 6, p. 1, doi. 10.1186/s40035-017-0087-3
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Genotype-phenotype correlations of amyotrophic lateral sclerosis.
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- Translational Neurodegeneration, 2016, v. 5, p. 1, doi. 10.1186/s40035-016-0050-8
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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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Characterization of a de Novo Constitutional Balanced Translocation t (2;11) (q33.2;q23.2) with Break Point on the Human NBEAL1-GeneHo.
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- Iranian Journal of Child Neurology, 2018, v. 12, n. 1, p. 94
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A mouse model of familial amyotrophic lateral sclerosis expressing a mutant superoxide dismutase 1 shows evidence of disordered transport in the vasopressin hypothalamo-neurohypophysial axis.
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- European Journal of Neuroscience, 1999, v. 11, n. 12, p. 4179, doi. 10.1046/j.1460-9568.1999.00840.x
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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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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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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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Wnt signaling pathway is involved in the pathogenesis of amyotrophic lateral sclerosis in adult transgenic mice.
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- Neurological Research, 2012, v. 34, n. 4, p. 390, doi. 10.1179/1743132812Y.0000000027
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Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.
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- Journal of Neurology, 2017, v. 264, n. 7, p. 1426, doi. 10.1007/s00415-017-8540-x
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ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.
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- Journal of Neurology, 2017, v. 264, n. 1, p. 11, doi. 10.1007/s00415-016-8301-2
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TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.
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- 2015
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- Letter
PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis.
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- Journal of Neurology, 2014, v. 261, n. 12, p. 2387, doi. 10.1007/s00415-014-7501-x
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Amyotrophic lateral sclerosis in Sardinia, insular Italy, 1995-2009.
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- Journal of Neurology, 2013, v. 260, n. 2, p. 572, doi. 10.1007/s00415-012-6681-5
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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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Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene.
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- Acta Neuropathologica Communications, 2017, v. 5, p. 12, doi. 10.1186/s40478-017-0437-5
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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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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
Oxidative stress causes abnormal accumulation of familial amyotrophic lateral sclerosis-related mutant SOD1 in transgenic Caenorhabditis elegans.
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- Human Molecular Genetics, 2001, v. 10, n. 19, p. 2013, doi. 10.1093/hmg/10.19.2013
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Protective effects of cardiotrophin-1 adenoviral gene transfer on neuromuscular degeneration in transgenic ALS mice.
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- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1925, doi. 10.1093/hmg/10.18.1925
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Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotropic lateral sclerosis kindreds.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1451, doi. 10.1093/hmg/8.8.1451
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Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.
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- Human Molecular Genetics, 1998, v. 7, n. 13
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- Article
مروری بر بیماری آمیوتروفیک لاترال سکروزیس (ALS) و وضعیت ژنتیکی آن.
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- Razi Journal of Medical Sciences, 2023, v. 30, n. 1, p. 244
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Genetic and clinical analysis of TP73 gene in amyotrophic lateral sclerosis patients from Chinese mainland.
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- Frontiers in Aging Neuroscience, 2023, v. 15, p. 01, doi. 10.3389/fnagi.2023.1114022
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Dynamic expression of the mouse orthologue of the human amyotropic lateral sclerosis associated gene C9orf72 during central nervous system development and neuronal differentiation.
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- Journal of Anatomy, 2016, v. 229, n. 6, p. 871, doi. 10.1111/joa.12526
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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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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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