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Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal, recessive disease caused by mutations in the gene encoding thymidine phosphorylase, leading to reduced enzymatic activity,Expand
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Accuracy of MR markers for differentiating Progressive Supranuclear Palsy from Parkinson's disease
Background Advanced brain MR techniques are useful tools for differentiating Progressive Supranuclear Palsy from Parkinson's disease, although time-consuming and unlikely to be used all together inExpand
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Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1
Background Myotonic dystrophy type 1 (DM1) represents a multisystemic disorder in which diffuse brain white and gray matter alterations related to clinical and genetic features have been described.Expand
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Prognostic value of brain proton MR spectroscopy and diffusion tensor imaging in newborns with hypoxic-ischemic encephalopathy treated by brain cooling
IntroductionMRI, proton magnetic resonance spectroscopy (1H-MRS), and diffusion tensor imaging (DTI) have been shown to be of great prognostic value in term newborns with moderate–severeExpand
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Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy
BACKGROUND AND PURPOSE: Mitochondrial neurogastrointestinal encephalopathy is a rare disorder due to recessive mutations in the thymidine phosphorylase gene, encoding thymidine phosphorylase proteinExpand
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ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy
Mitochondrial neuro-gastro-intestinal encephalomyopathy (MNGIE) is a rare and unavoidably fatal disease due to mutations in thymidine phosphorylase (TP). Clinically it is characterized byExpand
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Low brain iron content in idiopathic restless legs syndrome patients detected by phase imaging
The objective of this study was to use phase imaging to evaluate brain iron content in patients with idiopathic restless legs syndrome (RLS).
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White matter and cortical changes in atypical parkinsonisms: A multimodal quantitative MR study.
OBJECTIVES To evaluate white matter and cortical changes in patients with parkinsonisms and healthy controls (HC), applying both hypothesis-free and regions of interest (ROI)-based advanced brain MRExpand
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L-Dopa Modulation of Brain Connectivity in Parkinson’s Disease Patients: A Pilot EEG-fMRI Study
Studies of functional neurosurgery and electroencephalography in Parkinson’s disease have demonstrated abnormally synchronous activity between basal ganglia and motor cortex. Functional neuroimagingExpand
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Mitochondrial dysfunction in myotonic dystrophy type 1
The pathophysiological mechanism linking the nucleotide expansion in the DMPK gene to the clinical manifestations of myotonic dystrophy type 1 (DM1) is still unclear. In vitro studies demonstrateExpand
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