Cargando…

Case report of concurrent Fabry disease and amyotrophic lateral sclerosis supports a common pathway of pathogenesis

Detalles Bibliográficos
Autores principales:	Beer, Alexander M., Cooper-Knock, Johnathan, Fletcher, Sakina, Brown-Wright, Sian Heledd, Nandakumar, T Pisharam, Shaw, Pamela J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Taylor & Francis 2016
Materias:	Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5152543/ https://www.ncbi.nlm.nih.gov/pubmed/27094629 http://dx.doi.org/10.3109/21678421.2016.1170150

Ejemplares similares

Physical activity as an exogenous risk factor for amyotrophic lateral sclerosis: a review of the evidence
por: Chapman, Laura, et al.
Publicado: (2023)

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis
por: Cooper-Knock, Johnathan, et al.
Publicado: (2015)

Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia
por: Ranganathan, Ramya, et al.
Publicado: (2020)

Comparison of Blood RNA Extraction Methods Used for Gene Expression Profiling in Amyotrophic Lateral Sclerosis
por: Bayatti, Nadhim, et al.
Publicado: (2014)

Gamma-synuclein pathology in amyotrophic lateral sclerosis
por: Peters, Owen M, et al.
Publicado: (2015)

The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS)
por: Boddy, Sarah L., et al.
Publicado: (2021)

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis
por: Shepheard, Stephanie R, et al.
Publicado: (2021)

A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis
por: Cooper-Knock, Johnathan, et al.
Publicado: (2017)

C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis
por: Cooper-Knock, Johnathan, et al.
Publicado: (2015)

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype
por: Cooper-Knock, Johnathan, et al.
Publicado: (2017)

Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes
por: Julian, Thomas H, et al.
Publicado: (2021)

Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis
por: Boddy, Sarah, et al.
Publicado: (2022)

Clinical cases of amyotrophic lateral sclerosis concurrent with hydromyelia
por: Bogdanov, Enver I., et al.
Publicado: (2021)

Mitochondrial dynamism and the pathogenesis of Amyotrophic Lateral Sclerosis
por: Cozzolino, Mauro, et al.
Publicado: (2015)

Involvement of Lipids in the Pathogenesis of Amyotrophic Lateral Sclerosis
por: Alessenko, Alisa V., et al.
Publicado: (2023)

Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis
por: Cooper-Knock, Johnathan, et al.
Publicado: (2019)

Mitochondrial Transport and Turnover in the Pathogenesis of Amyotrophic Lateral Sclerosis
por: Granatiero, Veronica, et al.
Publicado: (2019)

25-Hydroxycholesterol is involved in the pathogenesis of amyotrophic lateral sclerosis
por: Kim, Sung-Min, et al.
Publicado: (2017)

Concurrent multiple sclerosis and amyotrophic lateral sclerosis: where inflammation and neurodegeneration meet?
por: Li, Grace, et al.
Publicado: (2012)

Senescent-like Blood Lymphocytes and Disease Progression in Amyotrophic Lateral Sclerosis
por: Yildiz, Ozlem, et al.
Publicado: (2022)

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat
por: Jones, Ashley R., et al.
Publicado: (2013)

Misfolding at the synapse: A role in amyotrophic lateral sclerosis pathogenesis?
por: Lum, Jeremy S., et al.
Publicado: (2022)

Current insights in the molecular genetic pathogenesis of amyotrophic lateral sclerosis
por: Zhou, Wan, et al.
Publicado: (2023)

Molecular Investigations of Protein Aggregation in the Pathogenesis of Amyotrophic Lateral Sclerosis
por: Duranti, Elisa, et al.
Publicado: (2022)

Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis
por: Genin, Emmanuelle C., et al.
Publicado: (2023)

Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?
por: Webster, Christopher P., et al.
Publicado: (2017)

Investigating cell death mechanisms in amyotrophic lateral sclerosis using transcriptomics
por: Heath, Paul R., et al.
Publicado: (2013)

SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis
por: Tafuri, Francesco, et al.
Publicado: (2015)

Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1
por: Capponi, Simona, et al.
Publicado: (2016)

Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis
por: Nakazawa, Seshiru, et al.
Publicado: (2016)

Metabolic Dysfunctions in Amyotrophic Lateral Sclerosis Pathogenesis and Potential Metabolic Treatments
por: Tefera, Tesfaye W., et al.
Publicado: (2017)

Genetics and Sex in the Pathogenesis of Amyotrophic Lateral Sclerosis (ALS): Is There a Link?
por: Trojsi, Francesca, et al.
Publicado: (2020)

Editorial: New Insights Into the Molecular Mechanism of Amyotrophic Lateral Sclerosis Pathogenesis
por: Li, Cheng, et al.
Publicado: (2022)

Muscle Involvement in Amyotrophic Lateral Sclerosis: Understanding the Pathogenesis and Advancing Therapeutics
por: Duranti, Elisa, et al.
Publicado: (2023)

Amyotrophic lateral sclerosis
por: Wijesekera, Lokesh C, et al.
Publicado: (2009)

Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS)
por: Waller, Rachel, et al.
Publicado: (2017)

A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations
por: Allen, Scott P., et al.
Publicado: (2023)

Reply: The role of DNAJB2 in amyotrophic lateral sclerosis
por: Chen, Han-Jou, et al.
Publicado: (2016)

Functional Contribution of the Transcription Factor ATF4 to the Pathogenesis of Amyotrophic Lateral Sclerosis
por: Matus, Soledad, et al.
Publicado: (2013)

Increased Axonal Ribosome Numbers Is an Early Event in the Pathogenesis of Amyotrophic Lateral Sclerosis
por: Verheijen, Mark H. G., et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_kvugjoe84iqd2mhlp6mrnqf2ne