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An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE geneMRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases.Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxiaHomozygosity mapping of Marinesco-Sjögren syndrome to 5q31."I Know that You Know that I Know": Neural Substrates Associated with Social Cognition Deficits in DM1 Patients.fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1.Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy.Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1.Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies.Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients.Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.Cognitive impairment in myotonic dystrophy type 1 (DM1): a longitudinal follow-up study.Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS.Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies.Toward the integration of novel wearable step-counters in gait telerehabilitation after stroke.Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1).Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene.Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes.A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2.Serial neuroimaging findings in a novel case of sporadic progressive ataxia and palatal tremor (PAPT).Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort.Prefrontal cortex as a compensatory network in ataxic gait: a correlation study between cortical activity and gait parameters.Evidence of white matter involvement in SCA 7.Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies.Transient MRI abnormalities in a case of occipital lobe epilepsy with favorable outcome.Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.Teaching NeuroImages: Autosomal dominant leukodystrophy in a sporadic case.Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.SIADH in a patient with sensory ataxic neuropathy with anti-disialosyl antibodies (CANOMAD).
P50
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P50
description
Italiaans onderzoekster
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hulumtuese
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researcher
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taighdeoir
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հետազոտող
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella SILVESTRI
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
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Gabriella Silvestri
@ga
Gabriella Silvestri
@nl
Gabriella Silvestri
@sl
Gabriella Silvestri
@sq
P1153
35965821500
P21
P27
P2798
P31
P496
0000-0002-1950-1468