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by Shi, TJ and Li, J and Tan, C and Chen, JJ
MEDICINE, ISSN 0025-7974, 05/2019, Volume 98, Issue 22, p. e15802
Rationale: Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a rare disease with white matter lesions of the central nervous system,... 
genetic family trees | hereditary diffuse leukoencephalopathy | MEDICINE, GENERAL & INTERNAL | HDLS | MUTATIONS | new mutation site | Case studies | Genetic disorders | Nervous system | Genetic aspects | Degeneration | Diagnosis | Leukoencephalopathy
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
European Journal of Neurology, ISSN 1351-5101, 02/2015, Volume 22, Issue 2, pp. 328 - 333
Journal Article
ACTA NEUROPATHOLOGICA COMMUNICATIONS, ISSN 2051-5960, 11/2019, Volume 7, Issue 1, pp. 1 - 11
Swedish type Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS-S) is a severe adult-onset leukoencephalopathy with the histopathological hallmark of... 
HDLS | LEUKODYSTROPHY | ADULT-ONSET LEUKOENCEPHALOPATHY | Swedish type hereditary diffuse Leukoencephalopathy with spheroids | GENETIC-CHARACTERIZATION | NEUROSCIENCES | FAMILY | AXONAL SPHEROIDS | TRANSFER-RNA SYNTHETASE | MUTATION | DISEASE | FRAMEWORK | Alanyl tRNA synthetase | AARS
Journal Article
European Journal of Neurology, ISSN 1351-5101, 04/2016, Volume 23, Issue 4, pp. 817 - 822
Journal Article
by Yang, XD and Huang, P and Tan, YY and Xiao, Q
FRONTIERS IN GENETICS, ISSN 1664-8021, 05/2019, Volume 10, p. 491
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disorder that typically presents with early-onset cognitive... 
CSF1R | HDLS | VARIANTS | hereditary diffuse leukoencephalopathy with axonal spheroids | GENETICS & HEREDITY | splicing mutation | ADULT-ONSET LEUKOENCEPHALOPATHY | neuroimages | PIGMENTED GLIA | whole-exome sequencing | Genetic research | Genetic aspects | Gene mutations | Leukoencephalopathy | Genes
Journal Article
Journal Article
European journal of neurology : the official journal of the European Federation of Neurological Societies, ISSN 1351-5101, 2/2015, Volume 22, Issue 2, pp. 328 - 333
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 4/2006, Volume 111, Issue 4, pp. 300 - 311
Journal Article