Neuromuscular Disorders
Journal
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Overview
publication venue for
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Toxic Myopathies
2011
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DMD & BMD – CLINICAL
2020
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DMD – BIOMARKERS & OUTCOME MEASURES
2020
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FSHD / OPMD / MYOTONIC DYSTROPHY
2020
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NEW GENES IN NEUROMUSCULAR DISEASES
2020
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NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY
2018
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Proceedings of a Parent Project Muscular Dystrophy Bone Health Workshop
2018
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A phase 3 randomized, double blind, placebo-controlled study to evaluate the efficacy and safety of sialic acid extended-release tablets in patients with GNE myopathy (GNEM)
2017
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GNE-myopathy (HIBM): Upper and lower extremity muscle strength declines over time in a prospective study
2017
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Multi-minicore myopathy without epidermolysis bullosa simplex: A new plectin phenotype
2016
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Restoration of dystrophin expression and motor function in using exosomes-based non-immunogenic genetic therapy
2016
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Systemic microangiopathy in Leber's hereditary optic neuropathy with nt 13708 and nt 3394 mutations
2016
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Upper and lower extremity muscle strength decline over 1 year in a prospective, observational GNE-myopathy natural history study
2016
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G.O.2
2014
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G.P.48
2014
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T.P.45 An ongoing phase 2a study to investigate drug–drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alpha glucosidase in subjects with Pompe disease – Preliminary results
2012
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T.P.46 A novel phase 2a study design to investigate drug-drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alpha-glucosidase in subjects with Pompe disease
2012
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P4.9 A phase 2, randomized, placebo-controlled, multiple ascending-dose study of ACE-031 (ActRIIB-IgG1) in Duchenne muscular dystrophy (DMD): Preliminary results
2011
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P3.54 Creatine for treating muscle disorders: meta-analysis of randomised controlled trials
2010
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Early detection of regional myocardial dysfunction in Duchenne muscular dystrophy by ultrasonic strain and strain rate imaging
2004
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Autosomal dominant hyaline body myopathy is linked to chromosome 14q
2002
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Distal myopathy with rimmed vacuoles linked to chromosome 12 in a Saudi kindred
2002
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Gene therapy for murine mucopolysaccharidosis type VII
1997
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334P GrowDMD: an international study on transition of youth with Duchenne muscular dystrophy (DMD).
43:104441.665.
2024
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335P Transition in Duchenne muscular dystrophy: understanding healthcare providers’ roles in an international context.
43:104441.666.
2024
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379P A qualitative study on people with Duchenne muscular dystrophy and caregivers’ experiences during the transition process from pediatric to adult healthcare.
43:104441.107.
2024
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Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care.
32:206-212.
2022
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Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group.
31:1296-1310.
2021
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Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation.
30:232-235.
2020
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236th ENMC International Workshop Bone protective therapy in Duchenne muscular dystrophy: Determining the feasibility and standards of clinical trials Hoofddorp, The Netherlands, 1–3 June 2018.
29:251-259.
2019
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Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015.
26:462-471.
2016
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Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB.
26:160-164.
2016
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Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults.
25:952-954.
2015
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Late-onset seropositive Isaacs’ syndrome after Guillain–Barré syndrome.
19:288-290.
2009
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Low dose formoterol administration improves muscle function in dystrophic mdx mice without increasing fatigue.
17:47-55.
2007
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Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain.
10:187-193.
2000
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Adenoviral gene therapy for duchenne muscular dystrophy.
6:S24-S24.
1996
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