about
Treatment for periodic paralysisFunctional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patientsMyotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanismsSodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysisHuman skeletal muscle sodium channelopathiesEarly onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A geneMyopathy with paroxysmal myoglobinuria and focal muscle necrosis following enfluorane anaesthesiaDeregulated microRNAs in myotonic dystrophy type 2Workshop Report: consensus on biomarkers of cerebral involvement in myotonic dystrophy, 2-3 December 2014, Milan, Italy.Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysisConfirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1Therapy in myotonic disorders and in muscle channelopathies.Quantitative myotonia assessment: an experimental protocol.Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.Acetazolamide prevents vacuolar myopathy in skeletal muscle of K(+) -depleted rats.Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction.Common micro-RNA signature in skeletal muscle damage and regeneration induced by Duchenne muscular dystrophy and acute ischemia.Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2.RNA Foci, CUGBP1, and ZNF9 are the primary targets of the mutant CUG and CCUG repeats expanded in myotonic dystrophies type 1 and type 2Reduction of toxic RNAs in myotonic dystrophies type 1 and type 2 by the RNA helicase p68/DDX5Myotonic dystrophy type 2 and related myotonic disorders."I Know that You Know that I Know": Neural Substrates Associated with Social Cognition Deficits in DM1 Patients.Advanced microscopic and histochemical techniques: diagnostic tools in the molecular era of myology.Measuring quality of life impairment in skeletal muscle channelopathies.Tibialis anterior muscle needle biopsy and sensitive biomolecular methods: a useful tool in myotonic dystrophy type 1GSK3β mediates muscle pathology in myotonic dystrophyMexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trialItalian guidelines for molecular analysis in myotonic dystrophies.Stable hybrid myotubes: a new model for studying re-expression of enzymatic activities in vitro.Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.Cerebral involvement in myotonic dystrophies.Identification and characterization of DM1 patients by a new diagnostic certified assay: neuromuscular and cardiac assessments.Hereditary human myopathies in muscle culture.Proximal myotonic myopathy: report on italian families and literature review.Diagnosis and new treatment in muscle channelopathies.Is it too early to recommend patent foramen ovale closure for all patients who suffer from migraine? A single-centre study.Systematic review and meta-analysis of currently available clinical evidence on migraine and patent foramen ovale percutaneous closure: much ado about nothing?
P50
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P50
description
hulumtues
@sq
onderzoeker
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researcher
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հետազոտող
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name
Giovanni Meola
@ast
Giovanni Meola
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Giovanni Meola
@es
Giovanni Meola
@nl
Giovanni Meola
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type
label
Giovanni Meola
@ast
Giovanni Meola
@en
Giovanni Meola
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Giovanni Meola
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Giovanni Meola
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giovanni meola
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Giovanni Meola
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Giovanni Meola
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Giovanni Meola
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Giovanni Meola
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Giovanni Meola
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P1053
K-4775-2016
P106
P21
P2798
P31
P3829
P496
0000-0001-6396-717X