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Quoted phrase not found in phrase index: "Amyotrophic lateral sclerosis type 23"
Page 1
SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.
Berdyński M, Miszta P, Safranow K, Andersen PM, Morita M, Filipek S, Żekanowski C, Kuźma-Kozakiewicz M. Berdyński M, et al. Sci Rep. 2022 Jan 7;12(1):103. doi: 10.1038/s41598-021-03891-8. Sci Rep. 2022. PMID: 34996976 Free PMC article.
Mutations in superoxide dismutase 1 gene (SOD1) are linked to amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder predominantly affecting upper and lower motor neurons. ...Molecular modeling results support the hypothesis that folding intermedia …
Mutations in superoxide dismutase 1 gene (SOD1) are linked to amyotrophic lateral sclerosis (ALS), a neurodegenerative …
Long-Term Mechanical Insufflation-Exsufflation Cough Assistance in Neuromuscular Disease: Patterns of Use and Lessons for Application.
Chatwin M, Simonds AK. Chatwin M, et al. Respir Care. 2020 Feb;65(2):135-143. doi: 10.4187/respcare.06882. Epub 2019 Nov 5. Respir Care. 2020. PMID: 31690614 Free article.
Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), and amyotrophic lateral sclerosis (ALS) were the 3 most common diagnoses. ...Median (IQR) usage for the group was 60% (13.5-100%) of days for the total days. Subjects with tracheostomies or SMA …
Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), and amyotrophic lateral sclerosis (ALS) were the 3 mo …
Epigenetics of neuromuscular disorders.
Coppedè F. Coppedè F. Epigenomics. 2020 Dec;12(23):2125-2139. doi: 10.2217/epi-2020-0282. Epub 2020 Nov 6. Epigenomics. 2020. PMID: 33155830 Review.
Altered perivascular fibroblast activity precedes ALS disease onset.
Månberg A, Skene N, Sanders F, Trusohamn M, Remnestål J, Szczepińska A, Aksoylu IS, Lönnerberg P, Ebarasi L, Wouters S, Lehmann M, Olofsson J, von Gohren Antequera I, Domaniku A, De Schaepdryver M, De Vocht J, Poesen K, Uhlén M, Anink J, Mijnsbergen C, Vergunst-Bosch H, Hübers A, Kläppe U, Rodriguez-Vieitez E, Gilthorpe JD, Hedlund E, Harris RA, Aronica E, Van Damme P, Ludolph A, Veldink J, Ingre C, Nilsson P, Lewandowski SA. Månberg A, et al. Nat Med. 2021 Apr;27(4):640-646. doi: 10.1038/s41591-021-01295-9. Epub 2021 Apr 15. Nat Med. 2021. PMID: 33859435 Free PMC article.
Apart from well-defined factors in neuronal cells(1), only a few reports consider that the variability of sporadic amyotrophic lateral sclerosis (ALS) progression can depend on less-defined contributions from glia(2,3) and blood vessels(4). In this study we u …
Apart from well-defined factors in neuronal cells(1), only a few reports consider that the variability of sporadic amyotrophic lat …
Molecular Biomarkers and Their Implications for the Early Diagnosis of Selected Neurodegenerative Diseases.
Doroszkiewicz J, Groblewska M, Mroczko B. Doroszkiewicz J, et al. Int J Mol Sci. 2022 Apr 21;23(9):4610. doi: 10.3390/ijms23094610. Int J Mol Sci. 2022. PMID: 35563001 Free PMC article. Review.
The aim of the current review is to summarize the pathophysiology of the four most frequent NDs-i.e., Alzheimer's disease (AD), Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), and multiple sclerosis (MS)-as well as current progress in th …
The aim of the current review is to summarize the pathophysiology of the four most frequent NDs-i.e., Alzheimer's disease (AD), Parkinson's …
Malnutrition at diagnosis in amyotrophic lateral sclerosis (als) and its influence on survival: Using glim criteria.
López-Gómez JJ, Ballesteros-Pomar MD, Torres-Torres B, De la Maza BP, Penacho-Lázaro MÁ, Palacio-Mures JM, Abreu-Padín C, López-Guzmán A, De Luis-Román DA. López-Gómez JJ, et al. Clin Nutr. 2021 Jan;40(1):237-244. doi: 10.1016/j.clnu.2020.05.014. Epub 2020 May 21. Clin Nutr. 2021. PMID: 32507583
BACKGROUND: Malnutrition is a prognostic factor in Amyotrophic Lateral Sclerosis (ALS). Sometimes, this condition is underdiagnosed, and it might influence on disease progression. AIMS: To evaluate a) nutritional status at the beginning of specialized nutriti …
BACKGROUND: Malnutrition is a prognostic factor in Amyotrophic Lateral Sclerosis (ALS). Sometimes, this condition is un …
Cognitive performance of adult patients with SMA before and after treatment initiation with nusinersen.
Vidovic M, Freigang M, Aust E, Linse K, Petzold D, Günther R. Vidovic M, et al. BMC Neurol. 2023 Jun 6;23(1):216. doi: 10.1186/s12883-023-03261-z. BMC Neurol. 2023. PMID: 37280513 Free PMC article.
Aim of this study was to investigate the cognitive profile of adult patients with SMA during treatment initiation with nusinersen and to reveal improvement or deterioration in cognitive performance. METHODS: This monocentric longitudinal study included 23 patients with SMA …
Aim of this study was to investigate the cognitive profile of adult patients with SMA during treatment initiation with nusinersen and to rev …
Gastrointestinal biopsies and amyotrophic lateral sclerosis - results from a cohort study of 1.1 million individuals.
Sun J, Ludvigsson JF, Roelstraete B, Pawitan Y, Fang F. Sun J, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Aug;22(5-6):410-418. doi: 10.1080/21678421.2021.1883666. Epub 2021 Feb 23. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 33619999
However, whether patients with GI dysfunction have altered risk of amyotrophic lateral sclerosis (ALS) remains unknown.Methods: Based on a historical nationwide cohort study-ESPRESSO-in Sweden, we compared the risk of ALS among individuals with a previous GI …
However, whether patients with GI dysfunction have altered risk of amyotrophic lateral sclerosis (ALS) remains unknown. …
Neutral theory: applicability and neutrality of clinical study endpoints where a disease-specific instrument is available.
Jandhyala R. Jandhyala R. BMC Med Res Methodol. 2023 May 20;23(1):121. doi: 10.1186/s12874-023-01947-z. BMC Med Res Methodol. 2023. PMID: 37210484 Free PMC article.
RESULTS: Around half the clinical studies for half the rare diseases with one disease-specific disease severity score (palmoplantar psoriasis, achalasia, systemic lupus erythematosus, systemic sclerosis and Fournier's gangrene) met the threshold for an acceptable match to …
RESULTS: Around half the clinical studies for half the rare diseases with one disease-specific disease severity score (palmoplantar psoriasi …
Alterations in the Masticatory System in Patients with Amyotrophic Lateral Sclerosis.
Riera-Punet N, Martinez-Gomis J, Paipa A, Povedano M, Peraire M. Riera-Punet N, et al. J Oral Facial Pain Headache. 2018 Winter;32(1):84–90. doi: 10.11607/ofph.1882. Epub 2017 Dec 15. J Oral Facial Pain Headache. 2018. PMID: 29244892
AIMS: To determine the effect of amyotrophic lateral sclerosis (ALS) on aspects of masticatory function and to assess the relationship between ALS and the prevalence of traumatic mucosal lesions caused by oral self-injury. METHODS: A total of 153 ALS patients …
AIMS: To determine the effect of amyotrophic lateral sclerosis (ALS) on aspects of masticatory function and to assess t …
47 results