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Respiratory muscle training in children and adults with neuromuscular disease.
Silva IS, Pedrosa R, Azevedo IG, Forbes AM, Fregonezi GA, Dourado Junior ME, Lima SR, Ferreira GM. Silva IS, et al. Cochrane Database Syst Rev. 2019 Sep 5;9(9):CD011711. doi: 10.1002/14651858.CD011711.pub2. Cochrane Database Syst Rev. 2019. PMID: 31487757 Free PMC article.
MAIN RESULTS: We included 11 studies involving 250 randomized participants with NMDs: three trials (N = 88) in people with amyotrophic lateral sclerosis (ALS; motor neuron disease), six trials (N = 112) in Duchenne muscular dystrophy (DMD), one trial (N = 23) in people with Becke …
MAIN RESULTS: We included 11 studies involving 250 randomized participants with NMDs: three trials (N = 88) in people with amyotrophic later …
Epilepsy in LAMA2-related muscular dystrophy: A systematic review of the literature.
Salvati A, Bonaventura E, Sesso G, Pasquariello R, Sicca F. Salvati A, et al. Seizure. 2021 Oct;91:425-436. doi: 10.1016/j.seizure.2021.07.020. Epub 2021 Jul 21. Seizure. 2021. PMID: 34325301 Free article. Review.
In view of this knowledge gap, we conducted a systematic review of the literature and, as an illustrative example, reported the clinical case of a boy with late-onset LAMA2-related limb-girdle muscular dystrophy presenting with severe epilepsy. Our ana …
In view of this knowledge gap, we conducted a systematic review of the literature and, as an illustrative example, reported the clinical cas …
A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies.
Mah JK, Korngut L, Fiest KM, Dykeman J, Day LJ, Pringsheim T, Jette N. Mah JK, et al. Can J Neurol Sci. 2016 Jan;43(1):163-77. doi: 10.1017/cjn.2015.311. Can J Neurol Sci. 2016. PMID: 26786644 Review.
The prevalence estimates per 100,000 were 8.26 (CI, 4.99-13.68) for myotonic dystrophy, 3.95 (CI, 2.89-5.40) for facioscapulohumeral dystrophy, 1.63 (CI, 0.94-2.81) for limb girdle muscular dystrophy, and 0.99 (CI, 0.62-1.57) for congenital muscular dy …
The prevalence estimates per 100,000 were 8.26 (CI, 4.99-13.68) for myotonic dystrophy, 3.95 (CI, 2.89-5.40) for facioscapulohumeral dystrop …
Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.
Audhya IF, Cheung A, Szabo SM, Flint E, Weihl CC, Gooch KL. Audhya IF, et al. J Neuromuscul Dis. 2022;9(4):477-492. doi: 10.3233/JND-210771. J Neuromuscul Dis. 2022. PMID: 35527561 Free PMC article.
BackgroundThe impact of age at autosomal recessive limb girdle muscular dystrophy (LGMDR) onset on progression to loss of ambulation (LOA) has not been well established, particularly by subtype. ...
BackgroundThe impact of age at autosomal recessive limb girdle muscular dystrophy (LGMDR) onset on progression t …
Genotype-phenotype correlations in alpha-sarcoglycanopathy: a systematic review.
Carson L, Merrick D. Carson L, et al. Ir J Med Sci. 2022 Dec;191(6):2743-2750. doi: 10.1007/s11845-021-02855-1. Epub 2022 Jan 18. Ir J Med Sci. 2022. PMID: 35040091
BACKGROUND: Mutations in the alpha-sarcoglycan gene cause limb-girdle muscular dystrophy 2D, an autosomal recessive muscle wasting disorder primarily affecting the muscles of the shoulder and pelvic girdles. ...Mutation hotspots were noted in exon thre …
BACKGROUND: Mutations in the alpha-sarcoglycan gene cause limb-girdle muscular dystrophy 2D, an autosomal recess …
Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review.
Cheung A, Audhya IF, Szabo SM, Friesen M, Weihl CC, Gooch KL. Cheung A, et al. J Clin Neuromuscul Dis. 2023 Dec 1;25(2):65-80. doi: 10.1097/CND.0000000000000461. J Clin Neuromuscul Dis. 2023. PMID: 37962193
OBJECTIVES: As the clinical course of autosomal recessive limb-girdle muscular dystrophy (LGMDR) is highly variable, this study characterized the frequency of loss of ambulation (LOA) among patients by subtype (LGMDR1, LGMDR2, LGMDR3-6, LGMDR9, LGMDR12 …
OBJECTIVES: As the clinical course of autosomal recessive limb-girdle muscular dystrophy (LGMDR) is highly varia …
Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis.
Leone E, Pandyan A, Rogers A, Kulshrestha R, Hill J, Philp F. Leone E, et al. J Neurol Neurosurg Psychiatry. 2024 Apr 12;95(5):442-453. doi: 10.1136/jnnp-2023-331988. J Neurol Neurosurg Psychiatry. 2024. PMID: 38124127 Free PMC article.
For adults with Facioscapulohumeral dystrophy (FSHD), vibratory proprioceptive assistance and neuromuscular electrical stimulation respectively improved maximum voluntary isometric contraction and reduced pain intensity (ES range: 1.58 to 2.33). For adults with FSHD, Limb- …
For adults with Facioscapulohumeral dystrophy (FSHD), vibratory proprioceptive assistance and neuromuscular electrical stimulation respectiv …