Works matching DE "C9ORF72 gene"
Results: 42
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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- Publication type:
- Article
Tracking CRISPR targeting.
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- Journal of Cell Biology, 2016, v. 214, n. 5, p. 491, doi. 10.1083/jcb.2145if
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- Publication type:
- Article
C9ORF72 hexanucleotide repeat expansion as a rare cause of bipolar disorder.
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- Bipolar Disorders, 2014, v. 16, n. 4, p. 448, doi. 10.1111/bdi.12169
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- Publication type:
- Article
Commentary: the C9orf72 repeat expansion Disrupts nucleocytoplasmic transport.
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- 2016
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- Publication type:
- Opinion
Lack of C9orf72 repeat expansion in Taiwanese patients with mixed neurodegenerative disorders.
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- Frontiers in Neurology, 2014, v. 5, p. 1, doi. 10.3389/fneur.2014.00059
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- Publication type:
- 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
Fibroblast bioenergetics to classify amyotrophic lateral sclerosis patients.
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- Molecular Neurodegeneration, 2017, v. 12, p. 1, doi. 10.1186/s13024-017-0217-5
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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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- Publication type:
- Article
Gene co-expression analysis unravels a link between C9orf72 and RNA metabolism in myeloid cells.
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- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0242-y
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- Article
Quantitative Trait Loci for Water-Stress Tolerance Traits Localize on Chromosome 9 of Wild Tomato.
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- Crop Science, 2016, v. 56, n. 4, p. 1514, doi. 10.2135/cropsci2015.07.0432
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- Article
The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD.
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- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131817
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- Publication type:
- Article
Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions.
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- Journal of Neurochemistry, 2016, v. 138, p. 145, doi. 10.1111/jnc.13623
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- Publication type:
- Article
Immunohistochemical detection of C9orf72 protein in frontotemporal lobar degeneration and motor neurone disease: patterns of immunostaining and an evaluation of commercial antibodies.
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- Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018, v. 19, n. 1/2, p. 102, doi. 10.1080/21678421.2017.1359304
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- Article
The role of the FTD-ALS associated C9orf72 expansion in suicide victims.
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- Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016, v. 17, n. 7/8/2016, p. 589, doi. 10.1080/21678421.2016.1203337
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- Publication type:
- Article
Progressive apraxia of speech in a patient with a C9orf72 mutation.
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- 2016
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- Case Study
Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred.
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- Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016, v. 17, n. 3/4, p. 245, doi. 10.3109/21678421.2015.1111904
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- Publication type:
- Article
Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology.
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- Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2015, v. 16, n. 3/4, p. 249, doi. 10.3109/21678421.2014.977296
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- Article
Analysis of the C9orf72 gene in spinal muscular atrophy patients.
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- Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, n. 7/8, p. 563, doi. 10.3109/21678421.2014.929148
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- Article
Clinicopathologic report of ocular involvement in ALS patients with C9orf72 mutation.
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- Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, n. 7/8, p. 569, doi. 10.3109/21678421.2014.951941
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- Article
THEME 7 GENETICS.
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- Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, p. 141, doi. 10.3109/21678421.2014.960183
- Publication type:
- Article
A Rare Presentation of Friedreich's Ataxia in Pediatric Case: Diabetes Mellitus.
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- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 72
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- Publication type:
- Article
No abnormal hexanucleotide repeat expansion of C9ORF72 in Japanese schizophrenia patients.
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- Journal of Neural Transmission, 2015, v. 122, n. 5, p. 731, doi. 10.1007/s00702-014-1295-y
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- Publication type:
- Article
Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia.
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- 2016
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- Publication type:
- journal article
What is the role of TDP-43 in C9orf72-related amyotrophic lateral sclerosis and frontemporal dementia?
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- Brain: A Journal of Neurology, 2016, v. 139, n. 12, p. 3057, doi. 10.1093/brain/aww264
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- Article
FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions.
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- Acta Neuropathologica, 2015, v. 130, n. 4, p. 525, doi. 10.1007/s00401-015-1448-6
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- Publication type:
- Article
Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration.
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- Acta Neuropathologica, 2015, v. 130, n. 3, p. 363, doi. 10.1007/s00401-015-1445-9
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- Publication type:
- Article
Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.
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- Acta Neuropathologica, 2015, v. 129, n. 1, p. 39, doi. 10.1007/s00401-014-1365-0
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- Publication type:
- Article
C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.
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- Acta Neuropathologica, 2014, v. 128, n. 4, p. 525, doi. 10.1007/s00401-014-1286-y
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- Publication type:
- Article
Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.
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- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162592
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- Publication type:
- Article
Profiling of Ubiquitination Pathway Genes in Peripheral Cells from Patients with Frontotemporal Dementia due to C9ORF72 and GRN Mutations.
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- International Journal of Molecular Sciences, 2015, v. 16, n. 1, p. 1385, doi. 10.3390/ijms16011385
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- Publication type:
- Article
The Emerging Roles of MicroRNAs in the Pathogenesis of Frontotemporal Dementia-Amyotrophic Lateral Sclerosis (FTD-ALS) Spectrum Disorders.
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- Journal of Neurogenetics, 2014, v. 28, n. 1/2, p. 30, doi. 10.3109/01677063.2013.876021
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- Publication type:
- Article
Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9 ORF72 hexanucleotide repeat expansion: a systematic neuropathological review.
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- Neuropathology & Applied Neurobiology, 2016, v. 42, n. 6, p. 547, doi. 10.1111/nan.12284
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- Publication type:
- Article
In This Issue.
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- 2016
- Publication type:
- Other
Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.
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- Neuropathology & Applied Neurobiology, 2016, v. 42, n. 3, p. 242, doi. 10.1111/nan.12292
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- Publication type:
- Article
Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene.
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- Neuropathology & Applied Neurobiology, 2015, v. 41, n. 5, p. 601, doi. 10.1111/nan.12178
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- Publication type:
- Article
C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
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- Stem Cells, 2016, v. 34, n. 8, p. 2063, doi. 10.1002/stem.2388
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- Publication type:
- Article
Chromosome 9p deletion in clear cell renal cell carcinoma predicts recurrence and survival following surgery.
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- British Journal of Cancer, 2014, v. 111, n. 7, p. 1381, doi. 10.1038/bjc.2014.420
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- Publication type:
- Article
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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- Publication type:
- Article
Tale of two diseases: Amyotrophic lateral sclerosis and frontotemporal dementia.
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- Neurology India, 2014, v. 62, n. 4, p. 347, doi. 10.4103/0028-3886.141174
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- Publication type:
- Article
Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features.
- Published in:
- Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0629-7
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- Publication type:
- Article
Single-pulse Transcranial Magnetic Stimulation in Amyotrophic Lateral Sclerosis: Experience of a single institution.
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- Journal of Neurological Sciences, 2017, v. 34, n. 1, p. 70
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- Publication type:
- Article
Specific expression and export of the Plasmodium falciparum Gametocyte Exported Protein-5 marks the gametocyte ring stage.
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- Malaria Journal, 2015, v. 14, n. 1, p. 1, doi. 10.1186/s12936-015-0853-6
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- Publication type:
- Article