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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 | 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 | 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
Parkinsonism and Related Disorders, ISSN 1353-8020, 2013, Volume 19, Issue 10, pp. 869 - 877
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 12/2014, Volume 73, Issue 12, pp. 1183 - 1190
ABSTRACTHereditary diffuse leukoencephalopathy with spheroids (HDLS) is a familial neurodegenerative disease clinically characterized by progressive cognitive... 
CSF1R gene | Axonal spheroids | Autopsy | MRI | Pigmentary leukodystrophy | Hereditary diffuse leukoencephalopathy with spheroids | Leukoencephalopathy | HDLS | LEUKODYSTROPHY | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | FAMILY | NEUROAXONAL SPHEROIDS | MUTATIONS | Leukoencephalopathies - pathology | Leukoencephalopathies - genetics | Humans | Middle Aged | Adult | Female | Early Diagnosis
Journal Article
Journal Article
European Journal of Neurology, ISSN 1351-5101, 04/2016, Volume 23, Issue 4, pp. 817 - 822
Journal Article
Journal of Neuropathology and Experimental Neurology, ISSN 0022-3069, 07/2007, Volume 66, Issue 7, pp. 660 - 672
Journal Article
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 11/2018, Volume 77, Issue 11, pp. 997 - 1000
Journal Article