Search Results - "Manzur, Adnan"
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Corticosteroids for the treatment of Duchenne muscular dystrophy
Published in Cochrane database of systematic reviews (05-05-2016)“…Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy of childhood. Untreated, this incurable disease, which has an X-linked recessive…”
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Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy
Published in PloS one (03-09-2019)“…Functional variability among boys with Duchenne muscular dystrophy (DMD) is well recognised and complicates interpretation of clinical studies. We hypothesised…”
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Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy
Published in Developmental medicine and child neurology (01-08-2022)“…Aim To correlate the North Star Ambulatory Assessment (NSAA) and timed rise from floor (TRF) recorded at age of expected peak with age at loss of ambulation…”
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Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy
Published in PloS one (26-04-2023)“…The North Star ambulatory assessment (NSAA) is a functional motor outcome measure in Duchenne muscular dystrophy (DMD), widely used in clinical trials and…”
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Congenital myopathies: Natural history of a large pediatric cohort
Published in Neurology (06-01-2015)“…OBJECTIVE:To assess the natural history of congenital myopathies (CMs) due to different genotypes. METHODS:Retrospective cross-sectional study based on…”
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Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations
Published in Human molecular genetics (15-01-2017)“…Centronuclear myopathies are early-onset muscle diseases caused by mutations in several genes including MTM1, DNM2, BIN1, RYR1 and TTN. The most severe and…”
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Respiratory Function and Sleep Disordered Breathing in Pediatric Duchenne Muscular Dystrophy
Published in Neurology (20-09-2022)“…BACKGROUND AND OBJECTIVESThe decline of respiratory function in Duchenne muscular dystrophy (DMD) is associated with sleep disordered breathing (SDB) and…”
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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Published in Nature communications (28-04-2022)“…Missense variants in RNA-binding proteins (RBPs) underlie a spectrum of disease phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia,…”
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Secondary outcomes of scoliosis surgery in disease‐modifying treatment‐naïve patients with spinal muscular atrophy type 2 and nonambulant type 3
Published in Muscle & nerve (01-11-2024)“…Introduction/Aims Available studies on scoliosis surgery in spinal muscular atrophy (SMA) have focused on the primary outcome of the procedure—the correction…”
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Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome
Published in Annals of neurology (01-04-2017)“…We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS). Whole exome or genome sequencing identified segregating…”
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DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials
Published in Neurology (11-04-2023)“…Clinical trials of genotype-targeted treatments in Duchenne muscular dystrophy (DMD) traditionally compare treated patients with untreated patients with the…”
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Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms
Published in The Journal of pediatrics (01-09-2017)“…To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment. Retrospective case review of 38…”
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Long-term Natural History of Pediatric Dominant and Recessive RYR1 -Related Myopathy
Published in Neurology (10-10-2023)“…-related myopathies are the most common congenital myopathies, but long-term natural history data are still scarce. We aim to describe the natural history of…”
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The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials
Published in Journal of neurology, neurosurgery and psychiatry (01-02-2016)“…ObjectiveWith the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this…”
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Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
Published in Neuromuscular disorders : NMD (01-09-2017)“…•We report the relative frequency, clinical and genetic spectrum of CMD in the UK.•We describe clinical and molecular data for 249 unrelated CMD…”
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Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
Published in American journal of human genetics (11-07-2013)“…Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of…”
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Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy
Published in Journal of neurology, neurosurgery and psychiatry (01-06-2013)“…Objective To assess the current use of glucocorticoids (GCs) in Duchenne muscular dystrophy in the UK, and compare the benefits and the adverse events of daily…”
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Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy
Published in Neurology (17-02-2015)“…OBJECTIVE:To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to…”
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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
Published in Brain (London, England : 1878) (01-03-2016)“…Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical,…”
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Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies
Published in Human mutation (01-06-2012)“…Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital myopathies associated with both dominant and recessive inheritance. Histopathological…”
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