about
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1FMotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.Enhancer chip: detecting human copy number variations in regulatory elementsPrevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsAre all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case reportNovel findings associated with MTM1 suggest a higher number of female symptomatic carriers.Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing resultsThe 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.MePR: a novel human mesenchymal progenitor model with characteristics of pluripotency.Increasing Role of Titin Mutations in Neuromuscular Disorders.Genetic basis of limb-girdle muscular dystrophies: the 2014 updateDiagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders.Association study reveals novel risk loci for sporadic inclusion body myositis.GYG1 gene mutations in a family with polyglucosan body myopathy.The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.GRASP65 and GRASP55 sequentially promote the transport of C-terminal valine-bearing cargos to and through the Golgi complex.Use of a lower dosage liver-detargeted AAV vector to prevent hamster muscular dystrophy.Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.Loss of the Otx2-Binding Site in the Nanog Promoter Affects the Integrity of Embryonic Stem Cell Subtypes and Specification of Inner Cell Mass-Derived Epiblast.Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant.Prediction of rare single-nucleotide causative mutations for muscular diseases in pooled next-generation sequencing experiments.Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.Next generation sequencing detection of late onset pompe disease.The complexity of titin splicing pattern in human adult skeletal muscles.Inflammatory myopathy in a patient with collagen VI mutationsDominant muscular dystrophy with a novelSYNE1gene mutationFamilial polyglucosan body myopathy with unusual phenotypeFamilial trisomy 6p in mother and daughterCopy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic PatientsBroad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional studyTargeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe diseaseExpanding the importance of HMERF titinopathy: new mutations and clinical aspectsA new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature
P50
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P50
description
hulumtues
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researcher
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wetenschapper
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հետազոտող
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name
Marco Savarese
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Marco Savarese
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Marco Savarese
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Marco Savarese
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Marco Savarese
@sl
type
label
Marco Savarese
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Marco Savarese
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Marco Savarese
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Marco Savarese
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Marco Savarese
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prefLabel
Marco Savarese
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Marco Savarese
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Marco Savarese
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Marco Savarese
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Marco Savarese
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P1053
J-8307-2016
P106
P1153
35489145600
P21
P31
P3829
P496
0000-0002-2591-244X