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The lived experience of reconstructing identity in response to genetic risk of frontotemporal degeneration and amyotrophic lateral sclerosis.
- Published in:
- Journal of Genetic Counseling, 2024, v. 33, n. 3, p. 515, doi. 10.1002/jgc4.1749
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- Publication type:
- Article
Establishing mRNA and microRNA interactions driving disease heterogeneity in amyotrophic lateral sclerosis patient survival.
- Published in:
- Brain Communications, 2024, v. 6, n. 1, p. 1, doi. 10.1093/braincomms/fcad331
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- Publication type:
- Article
The complexity of multidisciplinary respiratory care in amyotrophic lateral sclerosis.
- Published in:
- Breathe, 2023, v. 19, n. 3, p. 1, doi. 10.1183/20734735.0269-2022
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- Publication type:
- Article
A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations.
- Published in:
- Frontiers in Aging Neuroscience, 2023, p. 1, doi. 10.3389/fnagi.2023.1151848
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- Publication type:
- Article
Advances on the genetic mechanism of amyotrophic lateral sclerosis.
- Published in:
- 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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- Publication type:
- 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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- Publication type:
- Article
Genetic and clinical analysis of TP73 gene in amyotrophic lateral sclerosis patients from Chinese mainland.
- Published in:
- Frontiers in Aging Neuroscience, 2023, v. 15, p. 01, doi. 10.3389/fnagi.2023.1114022
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- Publication type:
- Article
Amyotrophic lateral sclerosis Donohue syndrome.
- Published in:
- Anaesthesiologie & Intensivmedizin, 2023, v. 64, p. S1
- Publication type:
- Article
Rapidly Progressive ALS with Atypical Parkinsonism: An Unusual Case of Multisystem Proteinopathy from India.
- Published in:
- 2023
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- Publication type:
- Case Study
Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences.
- Published in:
- Journal of Genetic Counseling, 2022, v. 31, n. 5, p. 1206, doi. 10.1002/jgc4.1591
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- Publication type:
- 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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- Publication type:
- Article
Scientists discover a new genetic form of ALS in children.
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- Neonatology Today, 2021, v. 16, n. 6, p. 124
- Publication type:
- Article
Efficacy and long-term safety of CRISPR/Cas9 genome editing in the SOD1-linked mouse models of ALS.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01942-4
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- Publication type:
- Article
Proteomics analysis of FUS mutant human motoneurons reveals altered regulation of cytoskeleton and other ALS-linked proteins via 3′UTR binding.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68794-6
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- Publication type:
- Article
Lifetime Risk and Heritability of Amyotrophic Lateral Sclerosis.
- Published in:
- Neurology Alert, 2020, v. 39, n. 6, p. N.PAG
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- Publication type:
- Article
Editorial: We may need large trials to find treatments for neurodegenerative diseases.
- Published in:
- Clinical Trials, 2019, v. 16, n. 2, p. 120, doi. 10.1177/1740774518820814
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- Publication type:
- Article
RNA Dysregulation in Amyotrophic Lateral Sclerosis.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00712
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- Publication type:
- Article
GM604 regulates developmental neurogenesis pathways and the expression of genes associated with amyotrophic lateral sclerosis.
- Published in:
- Translational Neurodegeneration, 2018, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40035-018-0135-7
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- Publication type:
- Article
Dysregulation of a novel miR-1825/TBCB/TUBA4A pathway in sporadic and familial ALS.
- Published in:
- Cellular & Molecular Life Sciences, 2018, v. 75, n. 23, p. 4301, doi. 10.1007/s00018-018-2873-1
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- Publication type:
- Article
Compound heterozygote mutations in the SIGMAR1 gene in an oldest‐old patient with amyotrophic lateral sclerosis.
- Published in:
- Geriatrics & Gerontology International, 2018, v. 18, n. 10, p. 1519, doi. 10.1111/ggi.13506
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- Publication type:
- Article
Lost in translation: microRNAs mediate pathological cross-talk between motor neurons and astrocytes.
- Published in:
- 2018
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- Publication type:
- journal article
Motor neuron-derived microRNAs cause astrocyte dysfunction in amyotrophic lateral sclerosis.
- Published in:
- 2018
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- Publication type:
- journal article
Dysregulation of MicroRNAs and Target Genes Networks in Peripheral Blood of Patients With Sporadic Amyotrophic Lateral Sclerosis.
- Published in:
- Frontiers in Molecular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnmol.2018.00288
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- Publication type:
- Article
Metabolic Changes Associated With Muscle Expression of SOD1<sup>G93A</sup>.
- Published in:
- Frontiers in Physiology, 2018, p. N.PAG, doi. 10.3389/fphys.2018.00831
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- Publication type:
- Article
CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?
- Published in:
- 2018
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- Publication type:
- journal article
SOD1 (L144F) ve C9orf72 Gen Mutasyonları Saptanan İki Aile ve Amiyotrofik Lateral Skleroza Genel Bakış.
- Published in:
- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2018, v. 24, n. 2, p. 159, doi. 10.4274/tnd.26214
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- Publication type:
- Article
Circadian Rhythm Dysfunction Accelerates Disease Progression in a Mouse Model With Amyotrophic Lateral Sclerosis.
- Published in:
- Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2018.00218
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- Publication type:
- Article
Hot-spot KIF5A mutations cause familial ALS.
- Published in:
- 2018
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- Publication type:
- journal article
Characterization of a de Novo Constitutional Balanced Translocation t (2;11) (q33.2;q23.2) with Break Point on the Human NBEAL1-GeneHo.
- Published in:
- Iranian Journal of Child Neurology, 2018, v. 12, n. 1, p. 94
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- Publication type:
- Article
Ultrastructural features of aberrant glial cells isolated from the spinal cord of paralytic rats expressing the amyotrophic lateral sclerosis-linked SOD1G93A mutation.
- Published in:
- Cell & Tissue Research, 2017, v. 370, n. 3, p. 391, doi. 10.1007/s00441-017-2681-1
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- Publication type:
- Article
Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0487-0
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- Publication type:
- Article
U6 snRNA expression prevents toxicity in TDP-43-knockdown cells.
- Published in:
- PLoS ONE, 2017, v. 12, n. 11, p. 1, doi. 10.1371/journal.pone.0187813
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- Publication type:
- Article
RNA binding proteins and the pathological cascade in ALS/FTD neurodegeneration.
- Published in:
- Science Translational Medicine, 2017, v. 9, n. 415, p. 1, doi. 10.1126/scitranslmed.aah5436
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- Publication type:
- Article
Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.
- Published in:
- Acta Neuropathologica, 2017, v. 134, n. 5, p. 715, doi. 10.1007/s00401-017-1760-4
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- Publication type:
- Article
Genetic Association between Amyotrophic Lateral Sclerosis and Cancer.
- Published in:
- Genes, 2017, v. 8, n. 10, p. 243, doi. 10.3390/genes8100243
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- Publication type:
- Article
Neuroinflammation and ALS: Transcriptomic Insights into Molecular Disease Mechanisms and Therapeutic Targets.
- Published in:
- Mediators of Inflammation, 2017, p. 1, doi. 10.1155/2017/7070469
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- Publication type:
- Article
Effects of epigallocatechin‑3‑gallate on iron metabolism in spinal cord motor neurons.
- Published in:
- Molecular Medicine Reports, 2017, v. 16, n. 3, p. 3010, doi. 10.3892/mmr.2017.6919
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- Publication type:
- Article
ALS Care and Ventilation.
- Published in:
- RT: The Journal for Respiratory Care Practitioners, 2017, v. 30, n. 6, p. 12
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- Publication type:
- Article
Loss of dual leucine zipper kinase signaling is protective in animal models of neurodegenerative disease.
- Published in:
- Science Translational Medicine, 2017, v. 9, n. 403, p. 1, doi. 10.1126/scitranslmed.aag0394
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- Publication type:
- Article
Epigenetic differences between monozygotic twins discordant for amyotrophic lateral sclerosis (ALS) provide clues to disease pathogenesis.
- Published in:
- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0182638
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- Publication type:
- Article
Modeling the C9ORF72 repeat expansion mutation using human induced pluripotent stem cells.
- Published in:
- Brain Pathology, 2017, v. 27, n. 4, p. 518, doi. 10.1111/bpa.12520
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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.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 7, p. 1426, doi. 10.1007/s00415-017-8540-x
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- Publication type:
- Article
Environmental insults: critical triggers for amyotrophic lateral sclerosis.
- Published in:
- Translational Neurodegeneration, 2017, v. 6, p. 1, doi. 10.1186/s40035-017-0087-3
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- Publication type:
- Article
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
- Published in:
- 2017
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- Publication type:
- journal article
Ataxin-2: From RNA Control to Human Health and Disease.
- Published in:
- Genes, 2017, v. 8, n. 6, p. 157, doi. 10.3390/genes8060157
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- Publication type:
- Article
Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson's Disease.
- Published in:
- Journal of Genetic Counseling, 2017, v. 26, n. 3, p. 442, doi. 10.1007/s10897-017-0088-5
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- Publication type:
- Article
Patients with Amyotrophic Lateral Sclerosis Have High Interest in and Limited Access to Genetic Testing.
- Published in:
- Journal of Genetic Counseling, 2017, v. 26, n. 3, p. 604, doi. 10.1007/s10897-016-0034-y
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- Publication type:
- Article
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
- Published in:
- Science Translational Medicine, 2017, v. 9, n. 388, p. 1, doi. 10.1126/scitranslmed.aad9157
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- Publication type:
- Article
The Observatory: Genetics/Genomics.
- Published in:
- Medical Laboratory Observer (MLO), 2017, v. 49, n. 5, p. 6
- Publication type:
- Article
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.
- Published in:
- Acta Neuropathologica Communications, 2017, v. 5, p. 12, doi. 10.1186/s40478-017-0437-5
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- Publication type:
- Article