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Quoted phrase not found in phrase index: "Myopathy, tubular aggregate, 1"
Page 1
Malignant hyperthermia.
Rosenberg H, Davis M, James D, Pollock N, Stowell K. Rosenberg H, et al. Orphanet J Rare Dis. 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. Orphanet J Rare Dis. 2007. PMID: 17456235 Free PMC article. Review.
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, in humans, to s …
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile a …
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S. Shieh PB, et al. Lancet Neurol. 2023 Dec;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7. Lancet Neurol. 2023. PMID: 37977713 Free article. Clinical Trial.
BACKGROUND: X-linked myotubular myopathy is a rare, life-threatening, congenital muscle disease observed mostly in males, which is caused by mutations in MTM1. ...We included boys younger than 5 years with X-linked myotubular myopathy who required mechanical …
BACKGROUND: X-linked myotubular myopathy is a rare, life-threatening, congenital muscle disease observed mostly in males, whic …
Inspiratory Muscle Training in Nemaline Myopathy.
van Kleef ESB, Langer D, van Engelen BGM, Ottenheijm CAC, Voermans NC, Doorduin J. van Kleef ESB, et al. J Neuromuscul Dis. 2023;10(5):825-834. doi: 10.3233/JND-221665. J Neuromuscul Dis. 2023. PMID: 37458044 Free PMC article.
OBJECTIVE: The aim of this controlled before-and-after pilot study was to investigate if IMT improves respiratory muscle strength in patients with nemaline myopathy. METHODS: Nine patients (7 females; 2 males, age 36.620.5 years) with respiratory muscle weakness and differ …
OBJECTIVE: The aim of this controlled before-and-after pilot study was to investigate if IMT improves respiratory muscle strength in patient …
High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy.
Andreoletti G, Romano O, Chou HJ, Sefid-Dashti MJ, Grilli A, Chen C, Lakshman N, Purushothaman P, Varfaj F, Mavilio F, Bicciato S, Urbinati F. Andreoletti G, et al. Am J Hum Genet. 2023 Oct 5;110(10):1648-1660. doi: 10.1016/j.ajhg.2023.08.008. Epub 2023 Sep 5. Am J Hum Genet. 2023. PMID: 37673065 Free PMC article. Clinical Trial.
X-linked myotubular myopathy (XLMTM) is a severe congenital disease characterized by profound muscle weakness, respiratory failure, and early death. ...We aimed to characterize the transcriptomic changes in muscle biopsies of individuals with XLMTM who received resa …
X-linked myotubular myopathy (XLMTM) is a severe congenital disease characterized by profound muscle weakness, respiratory fai …
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.
Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R, Gautel M, Muntoni F. Jungbluth H, et al. Nat Rev Neurol. 2018 Mar;14(3):151-167. doi: 10.1038/nrneurol.2017.191. Epub 2018 Feb 2. Nat Rev Neurol. 2018. PMID: 29391587 Review.
Central core disease (CCD), multi-minicore disease (MmD), centronuclear myopathy (CNM) and nemaline myopathy were among the first congenital myopathies to be reported, and they still represent the main diagnostic categories. ...Next-generation sequenci …
Central core disease (CCD), multi-minicore disease (MmD), centronuclear myopathy (CNM) and nemaline myopathy were among the fi …
Polymyositis: is there anything left? A retrospective diagnostic review from a tertiary myositis centre.
Loarce-Martos J, Lilleker JB, Parker M, McHugh N, Chinoy H. Loarce-Martos J, et al. Rheumatology (Oxford). 2021 Jul 1;60(7):3398-3403. doi: 10.1093/rheumatology/keaa801. Rheumatology (Oxford). 2021. PMID: 33367878
RESULTS: Nine (9/37, 24.3%) patients remained classified as PM, 3.5% (9/255) of the original cohort; these PM patients were seronegative for myositis antibodies, responsive to immunosuppression, and in 4/7 (57.1%) patients where muscle biopsy was performed had HLA-1 …
RESULTS: Nine (9/37, 24.3%) patients remained classified as PM, 3.5% (9/255) of the original cohort; these PM patients were seronegative for …
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review.
Middelink M, Voermans NC, van Engelen BGM, Janssen MCH, Groothuis JT, Knuijt S, Zweers-van Essen H. Middelink M, et al. J Neuromuscul Dis. 2023;10(5):777-785. doi: 10.3233/JND-230014. J Neuromuscul Dis. 2023. PMID: 37483025 Free PMC article.
OBJECTIVE: We aim to review the scientific literature on indications to start tube feeding in adults with facioscapulohumeral dystrophy (FSHD), inclusion body myositis (IBM), muscular dystrophy type 1 (DM1), oculopharyngeal muscular dystrophy (OPMD) and congenital …
OBJECTIVE: We aim to review the scientific literature on indications to start tube feeding in adults with facioscapulohumeral dystrophy (FSH …
Neuromuscular transmission defects in myopathies: Rare but worth searching for.
Elahi B, Laughlin RS, Litchy WJ, Milone M, Liewluck T. Elahi B, et al. Muscle Nerve. 2019 Apr;59(4):475-478. doi: 10.1002/mus.26393. Epub 2019 Jan 6. Muscle Nerve. 2019. PMID: 30536954
INTRODUCTION: Decremental responses in repetitive nerve stimulation have been reported in a few hereditary myopathies. We examined the frequency of decrement in a cohort of myopathy patients. ...We included patients with decrement (>10%) and either a pathological …
INTRODUCTION: Decremental responses in repetitive nerve stimulation have been reported in a few hereditary myopathies. We examined th …
RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families.
Zullo A, Perrotta G, D'Angelo R, Ruggiero L, Gravino E, Del Vecchio L, Santoro L, Salvatore F, Carsana A. Zullo A, et al. Biomed Res Int. 2019 Apr 21;2019:7638946. doi: 10.1155/2019/7638946. eCollection 2019. Biomed Res Int. 2019. PMID: 31165076 Free PMC article. Clinical Trial.
., the Ca(2+) channel of the sarco/endoplasmic reticulum (S/ER), and the voltage-dependent calcium channel Cav1.1 are the principal channels involved in excitation-contraction coupling in skeletal muscle. RYR1 gene variants are linked to distinct skeletal muscle disorders, …
., the Ca(2+) channel of the sarco/endoplasmic reticulum (S/ER), and the voltage-dependent calcium channel Cav1.1 are the principal c …
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.
Vita G, Vita GL, Musumeci O, Rodolico C, Messina S. Vita G, et al. Neurol Sci. 2019 Apr;40(4):671-681. doi: 10.1007/s10072-019-03764-z. Epub 2019 Feb 25. Neurol Sci. 2019. PMID: 30805745 Review.
The orally administered small-molecule risdiplam, which increases SMN protein levels similarly but also in peripheral organs, is tested in ongoing phase 2 and 3 trials. After positive results with phase 1 treatment with AAV9-SMN, the first gene therapy for SMA, a phase 3 …
The orally administered small-molecule risdiplam, which increases SMN protein levels similarly but also in peripheral organs, is tested in o …
35 results