about
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndromeMutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing LossLimb-girdle muscular dystrophyMutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy.An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.Diagnostic approach to the congenital muscular dystrophies.Neurobehavioral Concerns Among Males with Dystrophinopathy Using Population-Based Surveillance Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network.Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet.Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.Clinical and genetic characterization of manifesting carriers of DMD mutationsMutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design.Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.Presentation, management and follow-up of Schilder's disease.Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I.Urologic and gastrointestinal symptoms in the dystroglycanopathies.Hereditary causes of chorea in childhood.Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy.Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.Genitourinary health in a population-based cohort of males with Duchenne and Becker Muscular dystrophiesMuscular dystrophy overview: genetics and diagnosis.Prevalence of Duchenne and Becker muscular dystrophies in the United States.Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.Frataxin levels in peripheral tissue in Friedreich ataxia.Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.Antioxidant use in Friedreich ataxiaInfantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS.The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology.GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participantsMuscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy.Genotype-phenotype correlations in recessive RYR1-related myopathies.Progression of Friedreich ataxia: quantitative characterization over 5 yearsCollagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.Perceived quality of life among caregivers of children with a childhood-onset dystrophinopathy: a double ABCX model of caregiver stressors and perceived resources.Prevalence and bother of patient-reported lower urinary tract symptoms in the muscular dystrophies.Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.
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P50
description
Forscher
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investigador
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researcher
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wetenschapper
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հետազոտող
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研究者
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Katherine Mathews
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Katherine Mathews
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Katherine Mathews
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Katherine Mathews
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Katherine Mathews
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Katherine Mathews
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Katherine Mathews
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Katherine Mathews
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katherine mathews
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Katherine Mathews
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Katherine Mathews
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Katherine Mathews
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Katherine Mathews
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