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Keywords: amyotrophic lateral sclerosis
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Journal Article
Cognitive capacity in amyotrophic lateral sclerosis: the value of diagnostic markers in cerebrospinal fluid and the influence of nutrition and pulmonary function
Sabrina M Wölfel and others
Brain Communications, Volume 7, Issue 2, 2025, fcaf137, https://doi.org/10.1093/braincomms/fcaf137
Published: 08 April 2025
...Sabrina M Wölfel; Catherine N Widmann; Sergio Castro-Gomez; Patrick Weydt; Pawel Tacik; Michael T Heneka The treatment of amyotrophic lateral sclerosis consists mainly of symptomatic management of distressing symptoms. In addition, riluzole and edavarone have been shown to have a disease-delaying...
Journal Article
Aggregates associated with amyotrophic lateral sclerosis sequester the actin-binding protein profilin 2
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Sabrina Kubinski and others
Human Molecular Genetics, ddaf020, https://doi.org/10.1093/hmg/ddaf020
Published: 10 March 2025
..., please email: [email protected] 2025 This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model ( https://dbpia.nl.go.kr/pages/standard-publication-reuse-rights ) Abstract Amyotrophic Lateral Sclerosis (ALS...
Journal Article
Mendelian randomization identifies proteins involved in neurodegenerative diseases
Lazaros Belbasis and others
in
Brain
Brain, awaf018, https://doi.org/10.1093/brain/awaf018
Published: 03 March 2025
... in population biobanks. In this study, we aimed to identify proteins related to Alzheimer’s disease, Parkinson’s disease, multiple sclerosis and amyotrophic lateral sclerosis by leveraging large-scale genetic and proteomic data. We performed a two-sample cis Mendelian randomization study by selecting...
Journal Article
SIGMA-1 RECEPTOR ACTIVATION BY FLUVOXAMINE RESTORES TFEB- MEDIATED AUTOPHAGY VIA NUCLEOPORIN POM121 IN A NSC34 C9ALS/FTD MODEL
*Hsiang-En Wu and others
International Journal of Neuropsychopharmacology, Volume 28, Issue Supplement_1, February 2025, Pages i367–i368, https://doi.org/10.1093/ijnp/pyae059.653
Published: 12 February 2025
... role of the sigma-1 receptor in autophagy: hand-in-hand targets for the treatment of Alzheimer’ s. Expert Opin Ther Targets, 25(5), pp. 401-414. amyotrophic lateral sclerosis sigma-1 receptor fluvoxamine Abstracts CINP2024 In contrast, bath application of retigabine (5 & micro;M), a Kv7 channel...
Journal Article
An open-label Phase 2a study to assess the safety and tolerability of trimetazidine in patients with amyotrophic lateral sclerosis
Ruben P A van Eijk and others
Brain Communications, Volume 7, Issue 1, 2025, fcaf063, https://doi.org/10.1093/braincomms/fcaf063
Published: 08 February 2025
... degradation of lipids, malondialdehyde (MDA) and 8-hydroxy-2′-deoxyguanosine (8-OHdG). 13 Both MDA and 8-OHdG are oxidative stress markers, with some suggestive evidence that these markers are increased in people living with amyotrophic lateral sclerosis. 17 Given the emerging evidence...
Journal Article
Chaperone dysfunction in motor neuron disease: new insights from studies of the SMN complex
A Gregory Matera
in
Genetics
Genetics, Volume 229, Issue 3, March 2025, iyae223, https://doi.org/10.1093/genetics/iyae223
Published: 05 February 2025
..., distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Spinal muscular atrophy and amyotrophic lateral sclerosis are devastating neurodegenerative diseases characterized by motor neuron loss. Although these 2 disorders have distinct genetic origins, recent studies...
Journal Article
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Deep learning analyses of splicing variants identify the link of PCP4 with amyotrophic lateral sclerosis
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Xuelin Tang and others
in
Brain
Brain, awaf025, https://doi.org/10.1093/brain/awaf025
Published: 24 January 2025
...:https://dbpia.nl.go.kr/pages/standard-publication-reuse-rights ) Abstract Amyotrophic lateral sclerosis (ALS) is a severe motor neuron disease, with most sporadic cases lacking clear genetic causes. Abnormal pre-mRNA splicing is a fundamental mechanism in neurodegenerative diseases. For example, TAR DNA-binding protein...
Journal Article
Artificial intelligence models using F-wave responses predict amyotrophic lateral sclerosis
Jennifer M Martinez-Thompson and others
in
Brain
Brain, awaf014, https://doi.org/10.1093/brain/awaf014
Published: 16 January 2025
... the original work is properly cited. Abstract Nerve conduction F-wave studies contain crucial information about subclinical motor dysfunction that can be used to diagnose patients with amyotrophic lateral sclerosis (ALS). However, F-wave responses are highly variable in morphology, making waveform...
Journal Article
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Lipid-mediated resolution of inflammation and survival in amyotrophic lateral sclerosis
Ozlem Yildiz and others
Brain Communications, Volume 7, Issue 1, 2025, fcae402, https://doi.org/10.1093/braincomms/fcae402
Published: 15 January 2025
... Neuroinflammation impacts on the progression of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder. Specialized pro-resolving mediators trigger the resolution of inflammation. We investigate the specialized pro-resolving mediator blood profile and their receptors’ expression in peripheral blood...
Journal Article
Adaptation and Validation of Version B of the Edinburgh Cognitive and Behavioural ALS Screen for the Portuguese Population
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Sara Simão and others
Archives of Clinical Neuropsychology, Volume 40, Issue 3, May 2025, Pages 553–564, https://doi.org/10.1093/arclin/acae118
Published: 26 December 2024
...Sara Simão; Lucas L Naumann; Mamede de Carvalho; Miguel Oliveira Santos; Isabel Pavão Martins European Union's Horizon 2020 GA101017598 Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with heterogenous presentations ranging from pure motor manifestations to frontotemporal...
Journal Article
C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis
Mathias De Decker and others
in
Brain
Brain, Volume 148, Issue 3, March 2025, Pages 803–816, https://doi.org/10.1093/brain/awae331
Published: 20 December 2024
... signalling and impaired neuromuscular junction formation. Overexpressing C21ORF2 in mutant motor neurons restores ciliary function, suggesting a potential avenue for intervention. ALS C21ORF2 CFAP410 motor neuron disease primary cilia amyotrophic lateral sclerosis KU Leuven 10.13039...
Journal Article
A dataset profiling the multiomic landscape of the prefrontal cortex in amyotrophic lateral sclerosis
Fabian Hausmann and others
in
GigaScience
GigaScience, Volume 13, 2024, giae100, https://doi.org/10.1093/gigascience/giae100
Published: 18 December 2024
..., distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease, which still lacks effective disease-modifying therapies. Similar to other neurodegenerative disorders, such as Alzheimer...
Journal Article
Single-cell analysis reveals expanded CD8+ GZMKhigh T cells in CSF and shared peripheral clones in sporadic amyotrophic lateral sclerosis
Hyo Jae Kim and others
Brain Communications, Volume 6, Issue 6, 2024, fcae428, https://doi.org/10.1093/braincomms/fcae428
Published: 27 November 2024
... expanded CD8+ GZMKhigh T cells in the CSF of patients with sporadic amyotrophic lateral sclerosis (ALS). They demonstrate that these cells share expanded clones with those in the blood and co-localize with motor neurons, suggesting a pathogenic role for cytotoxic CD8...
Journal Article
Quality of Life (QOL) of Egyptian Patients with Amyotrophic Lateral Sclerosis (ALS) during the Pandemic of COVID-19
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Khaled Atef Elsyed Allam and others
QJM: An International Journal of Medicine, Volume 117, Issue Supplement_2, October 2024, hcae175.522, https://doi.org/10.1093/qjmed/hcae175.522
Published: 20 November 2024
...Khaled Atef Elsyed Allam; Nagia Ali Fahmy; Mohamed Amir Tork; Hebatallah Reda Rashed Abstract Background Amyotrophic lateral sclerosis (ALS), often referred to as Lou Gehrig’s disease, is a neurodegenerative disease of the upper and lower motor neurons, resulting in muscular atrophy...
Journal Article
T1-weighted MRI texture analysis in amyotrophic lateral sclerosis patients stratified by the D50 progression model
Pedram Parnianpour and others
Brain Communications, Volume 6, Issue 6, 2024, fcae389, https://doi.org/10.1093/braincomms/fcae389
Published: 05 November 2024
..., and reproduction in any medium, provided the original work is properly cited. Abstract Amyotrophic lateral sclerosis, a progressive neurodegenerative disease, presents challenges in predicting individual disease trajectories due to its heterogeneous nature. This study explores the application of texture analysis...
Journal Article
Heterogeneous nuclear ribonucleoprotein D — an understudied subfamily affected in sporadic TDP-43 proteinopathies
Monica Pinkerton and others
Brain Communications, Volume 6, Issue 6, 2024, fcae352, https://doi.org/10.1093/braincomms/fcae352
Published: 01 November 2024
... are a major pathological hallmark of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD), which are two neurodegenerative diseases believed to represent a disease continuum. 3 Recent evidence suggests the loss of TDP-43 repression of cryptic splicing following nuclear...
Journal Article
Direct interrogation of cortical interneuron circuits in amyotrophic lateral sclerosis
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Mehdi A J van den Bos and others
in
Brain
Brain, Volume 148, Issue 4, April 2025, Pages 1169–1179, https://doi.org/10.1093/brain/awae317
Published: 10 October 2024
... Publication Model ( https://dbpia.nl.go.kr/pages/standard-publication-reuse-rights ) Abstract Cortical hyperexcitability is a key pathogenic feature of amyotrophic lateral sclerosis (ALS), believed to be mediated through complex interplay of cortical interneurons. To date, there has been no technological...
Journal Article
Dynactin-1 mediates rescue of impaired axonal transport due to reduced mitochondrial bioenergetics in amyotrophic lateral sclerosis motor neurons
Ruxandra Dafinca and others
Brain Communications, Volume 6, Issue 5, 2024, fcae350, https://doi.org/10.1093/braincomms/fcae350
Published: 05 October 2024
... comparison test). Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the motor system with complex determinants, including genetic and non-genetic factors. A key pathological signature of ALS is the cytoplasmic mislocalization and aggregation of TDP-43 in affected motor neurons...
Journal Article
Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort
Elena Abati and others
Brain Communications, Volume 6, Issue 5, 2024, fcae312, https://doi.org/10.1093/braincomms/fcae312
Published: 23 September 2024
... for mitochondrial fusion, transport, maintenance and cell communication. MFN2 mutations are primarily linked to Charcot–Marie–Tooth disease type 2A. However, a few cases of amyotrophic lateral sclerosis and amyotrophic lateral sclerosis/frontotemporal dementia phenotypes with concomitant MFN2...
Journal Article
Multiple lines of evidence for disruption of nuclear lamina and nucleoporins in FUS amyotrophic lateral sclerosis
Kensuke Okada and others
in
Brain
Brain, Volume 147, Issue 11, November 2024, Pages 3933–3948, https://doi.org/10.1093/brain/awae224
Published: 23 September 2024
...-cytoplasmic trafficking. FUS amyotrophic lateral sclerosis nuclear lamina nuclear pore complex Correspondence to: Daisuke Ito, MD, PhD Department of Neurology/Memory Center, Keio University School of Medicine 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan E-mail: [email protected] Correspondence may also...
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