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Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities
Kumar SH, Athimoolam K, Suraj M, et al.
PLoS ONE, 2020, 15, 6
Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain
Pullen MY, Weihl CC, True HL
PLoS ONE, 2020, 15, 6
Urinary incontinence in men with Duchenne and Becker muscular dystrophy
Morse CI, Higham K, Bostock EL, et al.
PLoS ONE, 2020, 15, 5
Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial
Kurkiewicz A, Cooper A, McIlwaine E, et al.
PLoS ONE, 2020, 15, 4
Characterization of brain dystrophins absence and impact in dystrophin-deficient Dmdmdx rat model
Caudal D, François V, Lafoux A, et al.
PLoS ONE, 2020, 15, 3
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
Pera MC, Coratti G, Berti B, et al.
PLoS ONE, 2020, 15, 3
Challenges associated with homologous directed repair using CRISPR-Cas9 and TALEN to edit the DMD genetic mutation in canine Duchenne muscular dystrophy
Mata Lopez S, Balog-Alvarez C, Vitha S, et al.
PLoS ONE, 2020, 15, 1
Evaluation of the cognitive-motor performance of adults with Duchenne Muscular Dystrophy in a hand-related task
Nizamis K, Schutte W, Grutters JJ, et al.
PLoS ONE, 2020, 15, 1
Diagnostic differences in respiratory breathing patterns and work of breathing indices in children with Duchenne muscular dystrophy
Ryan L, Rahman T, Strang A, et al.
PLoS ONE, 2020, 15, 1
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene
Torella A, Zanobio M, Zeuli R, et al.
PLoS ONE, 2020, 15, 8
Omecamtiv mecarbil lowers the contractile deficit in a mouse model of nebulin-based nemaline myopathy
Lindqvist J, Lee EJ, Karimi E, et al.
PLoS ONE, 2019, 14, 11
Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy
Muntoni F, Domingos J, Manzur AY, et al.
PLoS ONE, 2019, 14, 9
Angiotensin II receptor blocker losartan exacerbates muscle damage and exhibits weak blood pressure-lowering activity in a dysferlin-null model of Limb-Girdle muscular dystrophy type 2B
White Z, Milad N, Tehrani AY, et al.
PLoS ONE, 2019, 14, 8
Investigating the clinical use of structured light plethysmography to assess lung function in children with neuromuscular disorders
Fleck D, Curry C, Donnan K, et al.
PLoS ONE, 2019, 14, 8
Discovery of potential urine-accessible metabolite biomarkers associated with muscle disease and corticosteroid response in the mdx mouse model for Duchenne
Thangarajh M, Zhang A, Gill K, et al.
PLoS ONE, 2019, 14, 7
Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases
Hou Y, Xie Z, Zhao X, et al.
PLoS ONE, 2019, 14, 7
The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent
Vijzelaar R, Snetselaar R, Clausen M, et al.
PLoS ONE, 2019, 14, 7
Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
Brogna C, Coratt G, Pane M, et al.
PLoS ONE, 2019, 14, 7
Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional case-controlled study.
Kennedy RA, Carroll K, Paterson KL, et al.
PLoS ONE, 2019, 14, n6
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
Brogna C, Coratti G, Pane M, et al.
PLoS ONE, 2019, 14, n6
Gene therapy as a potential therapeutic option for Duchenne muscular dystrophy: A qualitative preference study of patients and parents
Landrum Peay H, Fischer R, Tzeng JP, et al.
PLoS ONE, 2019, 14, n5, e0213649
Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders
Fayssoil A, Nguyen LS, Ogna A, et al.
PLoS ONE, 2019, 14, 4
Effects of the selective inhibition of proteasome caspase-like activity by CLi a derivative of nor-cerpegin in dystrophic mdx mice
Hovhannisyan Y, Melikyan G, Mougenot N, et al.
PLoS ONE, 2019, 14, 4
Evaluation of intuitive trunk and non-intuitive leg sEMG control interfaces as command input for a 2-D Fitts's law style task
Verros S, Lucassen K, Hekman EEG, et al.
PLoS ONE, 2019, 14, 4
Trends in incidence, prevalence, and mortality of neuromuscular disease in Ontario, Canada: A population-based retrospective cohort study (2003-2014)
Rose L, McKim D, Leasa D, et al.
PLoS ONE, 2019, 14, 3
