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The New England Journal of Medicine, ISSN 0028-4793, 05/2012, Volume 366, Issue 20, pp. 1870 - 1880
Journal Article
European Journal of Neurology, ISSN 1351-5101, 01/2017, Volume 24, Issue 1, pp. 37 - 45
Background and purpose: The clinical characteristics of colony stimulating factor 1 receptor (CSF1R) related adult-onset leukoencephalopathy with axonal... 
leukoencephalopathy | pigmented orthochromatic leukodystrophy | colony stimulating factor 1 receptor | adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia | hereditary diffuse leukoencephalopathy with spheroids | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | HDLS | MRI | LEUKODYSTROPHY | INVOLVEMENT | NEUROSCIENCES | CLINICAL NEUROLOGY | FEATURES | IMPAIRMENT | PROGRESSIVE MULTIPLE-SCLEROSIS | HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY | CORPUS-CALLOSUM | PATIENT | Leukoencephalopathies - genetics | Neuroglia - pathology | Humans | Leukoencephalopathies - diagnostic imaging | Middle Aged | Male | Young Adult | Receptors, Granulocyte-Macrophage Colony-Stimulating Factor - genetics | Aged, 80 and over | Adult | Female | Pyramidal Tracts - pathology | Leukoencephalopathies - pathology | Penetrance | Sex Characteristics | Mutation - genetics | White Matter - pathology | Corpus Callosum - diagnostic imaging | Magnetic Resonance Imaging | White Matter - diagnostic imaging | Movement Disorders - physiopathology | Pyramidal Tracts - diagnostic imaging | Axons - pathology | Corpus Callosum - pathology | Movement Disorders - etiology | Adolescent | Age of Onset | Heterozygote | Aged | Tyrosine | Genetic research | Genetic aspects | Leukoencephalopathy | Kinases | Age | Mutation | Index Medicus | Original
Journal Article
European Journal of Neurology, ISSN 1351-5101, 01/2018, Volume 25, Issue 1, pp. 142 - 147
Background and purposeTo establish and validate diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) due to... 
alanyl‐transfer | diagnostic criteria | adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia | RNA | colony‐stimulating factor 1 receptor | leukoencephalopathy | pigmented orthochromatic leukodystrophy | hereditary diffuse leukoencephalopathy with spheroids | synthetase 2 | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | colony-stimulating factor 1 receptor | alanyl-transfer RNA synthetase 2 | HDLS | LEUKODYSTROPHY | NEUROSCIENCES | CLINICAL NEUROLOGY | Leukoencephalopathies - pathology | Diagnosis, Differential | Leukoencephalopathies - genetics | Reproducibility of Results | CADASIL - pathology | Neuroglia - pathology | Humans | Middle Aged | Spheroids, Cellular - pathology | Male | Tomography, X-Ray Computed | CADASIL - genetics | Young Adult | Magnetic Resonance Imaging | Receptors, Granulocyte-Macrophage Colony-Stimulating Factor - genetics | Axons - pathology | Cognition Disorders - etiology | Leukoencephalopathies - diagnosis | Adolescent | CADASIL - diagnosis | Adult | Female | Receptor, Notch3 - genetics | Aged | Genetic aspects | Diagnosis | Ligases | Leukoencephalopathy | Analysis | Transfer RNA | Sensitivity | Macrophage colony-stimulating factor | Colony-stimulating factor | Diagnostic systems | Mutation | Criteria | Spheroids | Genetic screening | Index Medicus | Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) | pigmented orthochromatic leukodystrophy (POLD) | colony stimulating factor 1 receptor (CSF1R) | alanyl-transfer (t)RNA synthetase 2 (AARS2) | hereditary diffuse leukoencephalopathy with spheroids (HDLS)
Journal Article
Journal Article
European Journal of Neurology, ISSN 1351-5101, 06/2018, Volume 25, Issue 6, pp. 875 - 881
Background and purposeMutations in colony-stimulating factor 1 receptor (CSF1R) cause adult-onset leukoencephalopathy with axonal spheroids and pigmented glia... 
white matter | adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia | colony‐stimulating factor 1 receptor | leukoencephalopathies | genetic and inherited disorders | leukodystrophies | stroke | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | colony-stimulating factor 1 receptor | CSF1R MUTATION | PHENOTYPE | ADULT-ONSET LEUKOENCEPHALOPATHY | PIGMENTED GLIA | NEUROSCIENCES | CLINICAL NEUROLOGY | HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY | AXONAL SPHEROIDS | GENE | DIAGNOSTIC-CRITERIA | ISCHEMIC-STROKE | ASSOCIATION | Leukoencephalopathies - pathology | Leukoaraiosis - pathology | Leukoencephalopathies - genetics | Humans | Leukoencephalopathies - diagnostic imaging | Middle Aged | Male | Mutation, Missense | White Matter - pathology | Magnetic Resonance Imaging | White Matter - diagnostic imaging | Receptors, Colony-Stimulating Factor - genetics | Receptors, Colony-Stimulating Factor - metabolism | Diffusion Magnetic Resonance Imaging | Aged, 80 and over | Female | Aged | Leukoaraiosis - genetics | Mutation | Leukoaraiosis - diagnostic imaging | Stroke (Disease) | Proteins | Medicine, Experimental | Medical research | Neuroimaging | Brain | Nuclear magnetic resonance--NMR | Leukoencephalopathy | Amino acid substitution | Cerebrovascular system | Missense mutation | Ischemia | Genetics | Lesions | Pathogens | Stroke | Medical imaging | Colonies | Abnormalities | Substantia alba | Patients | Spheroids | Embolism | Pathogenicity | Magnetic resonance imaging | Ligands | Resonance | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2016, Volume 11, Issue 12, pp. e0168376 - e0168376
Background The monoclonal antibody natalizumab (NTZ) is a highly effective treatment for patients with multiple sclerosis (MS). However, this drug is... 
TREATED MS PATIENTS | PATTERN | RECONSTITUTION INFLAMMATORY SYNDROME | MRI | RECOMMENDATIONS | MULTIDISCIPLINARY SCIENCES | DISABILITY | RISK | PATIENT | PML-IRIS | Multiple Sclerosis - mortality | Humans | Middle Aged | Natalizumab - adverse effects | Male | Multiple Sclerosis - diagnostic imaging | Survival Rate | Leukoencephalopathy, Progressive Multifocal - mortality | Disease-Free Survival | Leukoencephalopathy, Progressive Multifocal - chemically induced | Magnetic Resonance Imaging | JC Virus | Natalizumab - administration & dosage | Adult | Female | Leukoencephalopathy, Progressive Multifocal - diagnostic imaging | Retrospective Studies | Leukoencephalopathy, Progressive Multifocal - physiopathology | Multiple Sclerosis - drug therapy | Development and progression | Care and treatment | Multiple sclerosis | Drug therapy | Leukoencephalopathy, Progressive multifocal | Prevalence studies (Epidemiology) | Pictures | Neuroimaging | Brain | Nuclear magnetic resonance--NMR | Change detection | Central nervous system | Cognitive ability | Opportunist infection | Gadolinium | Cerebrospinal fluid | Leukoencephalopathy | Progressive multifocal leukoencephalopathy | Demographics | Restoration | Human immunodeficiency virus--HIV | Diagnosis | Age | Deoxyribonucleic acid--DNA | Immune system | Survival | Patients | Neurology | Magnetic resonance imaging | Monoclonal antibodies | Data collection | Psychiatry | Sociodemographics | Index Medicus | Deoxyribonucleic acid | Nuclear magnetic resonance | NMR | HIV | DNA | Human immunodeficiency virus
Journal Article
Multiple Sclerosis Journal, ISSN 1352-4585, 7/2016, Volume 22, Issue 8, pp. 1048 - 1060
Journal Article
Journal Article
Journal Article