about
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanSMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCRCongenital muscular dystrophies with defective glycosylation of dystroglycan: a population studyPrevalence of congenital muscular dystrophy in Italy: a population studyRandomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophyFeeding problems and malnutrition in spinal muscular atrophy type IIDaily salbutamol in young patients with SMA type IISalbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design24 month longitudinal data in ambulant boys with Duchenne muscular dystrophyLong term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.Autosomal recessive Bethlem myopathy.Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study.Lipid peroxidation inhibition blunts nuclear factor-kappaB activation, reduces skeletal muscle degeneration, and enhances muscle function in mdx mice.The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability.Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy.Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophyRespiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials.Muscle MRI in inherited neuromuscular disorders: past, present, and future.Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker studyDeep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathyThe genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsMYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.Current methodological issues in the study of children with inherited neuromuscular disorders.Sport activity in Charcot-Marie-Tooth disease: A case study of a Paralympic swimmer.Burden, professional support, and social network in families of children and young adults with muscular dystrophies."I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy.Reliability of the North Star Ambulatory Assessment in a multicentric setting.Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study.Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy.Old measures and new scores in spinal muscular atrophy patients.Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test.Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.POMT2 mutation in a patient with 'MEB-like' phenotype.DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features.
P50
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P50
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hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Sonia Messina
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Sonia Messina
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Sonia Messina
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Sonia Messina
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Sonia Messina
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type
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Sonia Messina
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Sonia Messina
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Sonia Messina
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Sonia Messina
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Sonia Messina
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Sonia Messina
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Sonia Messina
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Sonia Messina
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Sonia Messina
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Sonia Messina
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0000-0001-7994-3391