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Quoted phrase not found in phrase index: "Amyotrophic lateral sclerosis type 5"
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 …
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H. Deneubourg C, et al. Autophagy. 2022 Mar;18(3):496-517. doi: 10.1080/15548627.2021.1943177. Epub 2021 Aug 19. Autophagy. 2022. PMID: 34130600 Free PMC article.
Structural CNS abnormalities, cerebellar involvement, spasticity and peripheral nerve pathology are prominent neurological features, indicating a specific vulnerability of certain neuronal populations to autophagic disturbance. A typically biphasic disease course of late-o …
Structural CNS abnormalities, cerebellar involvement, spasticity and peripheral nerve pathology are prominent neurological features, indicat …
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 …
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.
Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF. Thornton CA, et al. Lancet Neurol. 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. Lancet Neurol. 2023. PMID: 36804094 Clinical Trial.
BACKGROUND: Myotonic dystrophy type 1 results from an RNA gain-of-function mutation, in which DM1 protein kinase (DMPK) transcripts carrying expanded trinucleotide repeats exert deleterious effects. ...However, skeletal muscle drug concentrations were below levels predi …
BACKGROUND: Myotonic dystrophy type 1 results from an RNA gain-of-function mutation, in which DM1 protein kinase (DMPK) transcripts c …
Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis.
Chiò A, Moglia C, Canosa A, Manera U, Grassano M, Vasta R, Palumbo F, Gallone S, Brunetti M, Barberis M, De Marchi F, Dalgard C, Chia R, Mora G, Iazzolino B, Peotta L, Traynor BJ, Corrado L, D'Alfonso S, Mazzini L, Calvo A. Chiò A, et al. Neurology. 2023 Jul 4;101(1):e83-e93. doi: 10.1212/WNL.0000000000207367. Epub 2023 May 18. Neurology. 2023. PMID: 37202167 Free PMC article.
BACKGROUND AND OBJECTIVES: Despite recent advances, it is not clear whether the various genes/genetic variants related to amyotrophic lateral sclerosis (ALS) interact in modifying patients' phenotype. The aim of this study was to determine whether the coprese …
BACKGROUND AND OBJECTIVES: Despite recent advances, it is not clear whether the various genes/genetic variants related to amyotrophic …
Possible etiology and treatment of amyotrophic lateral sclerosis.
Holecek V, Rokyta R. Holecek V, et al. Neuro Endocrinol Lett. 2018 Feb;38(8):528-531. Neuro Endocrinol Lett. 2018. PMID: 29504729 Review.
Amyotrophic Lateral Sclerosis (ALS) is one of the most dangerous and least understood diseases with a pathophysiology that is still largely unknown. ...Pathophysiological research has confirmed the influence of certains proteins on the prognosis of ALS …
Amyotrophic Lateral Sclerosis (ALS) is one of the most dangerous and least understood diseases with a pathophysiology t …
Myofiber Type Shift in Extraocular Muscles in Amyotrophic Lateral Sclerosis.
Behzadi A, Tjust AE, Liu JX, Andersen PM, Brännström T, Pedrosa Domellöf F. Behzadi A, et al. Invest Ophthalmol Vis Sci. 2023 May 1;64(5):15. doi: 10.1167/iovs.64.5.15. Invest Ophthalmol Vis Sci. 2023. PMID: 37200039 Free PMC article.
PURPOSE: To investigate changes in myofiber composition in the global layer (GL) and orbital layer (OL) of extraocular muscles (EOMs) from terminal amyotrophic lateral sclerosis (ALS) donors. METHODS: Medial recti muscles collected postmortem from spinal-onse …
PURPOSE: To investigate changes in myofiber composition in the global layer (GL) and orbital layer (OL) of extraocular muscles (EOMs) from t …
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E, Hulme J, An SSA. Bagyinszky E, et al. Cells. 2023 Jul 27;12(15):1948. doi: 10.3390/cells12151948. Cells. 2023. PMID: 37566027 Free PMC article. Review.
Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease affecting the upper and lower motor neurons, leading to muscle weakness, motor impairments, disabilities and death. ...So far, there is no effective therapy against ALS. Thus, early …
Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease affecting the upper and lower motor neuro …
Type 2 diabetes, obesity, and risk of amyotrophic lateral sclerosis: A population-based cohort study.
Skajaa N, Riahi EB, Szépligeti SK, Horváth-Puhó E, Sørensen TT, Henderson VW, Sørensen HT. Skajaa N, et al. Brain Behav. 2023 Jun;13(6):e3007. doi: 10.1002/brb3.3007. Epub 2023 Apr 19. Brain Behav. 2023. PMID: 37073502 Free PMC article.
BACKGROUND: Type 2 diabetes and obesity may be inversely associated with amyotrophic lateral sclerosis (ALS), but the evidence is controversial. METHODS: Using Danish, nationwide registries (1980-2016), we identified patients with a diagnosis of typ …
BACKGROUND: Type 2 diabetes and obesity may be inversely associated with amyotrophic lateral sclerosis (ALS), bu …
Heterogeneous splicing patterns resulting from KIF5A variants associated with amyotrophic lateral sclerosis.
Pino MG, Rich KA, Hall NJ, Jones ML, Fox A, Musier-Forsyth K, Kolb SJ. Pino MG, et al. Hum Mol Genet. 2023 Nov 3;32(22):3166-3180. doi: 10.1093/hmg/ddad134. Hum Mol Genet. 2023. PMID: 37593923
Single-nucleotide variants (SNVs) in the gene encoding Kinesin Family Member 5A (KIF5A), a neuronal motor protein involved in anterograde transport along microtubules, have been associated with amyotrophic lateral sclerosis (ALS). ALS is a rapidly progressive …
Single-nucleotide variants (SNVs) in the gene encoding Kinesin Family Member 5A (KIF5A), a neuronal motor protein involved in anterograde tr …
106 results