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HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
Known as:
ASPARTYL-tRNA SYNTHETASE DEFICIENCY
, HBSL
National Institutes of Health
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Related topics
Related topics
6 relations
Autosomal recessive inheritance
DARS, ARG487CYS
DARS, MET256LEU
Hypoplasia of the corpus callosum
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
[DARS mutations responsible for hypomyelination with brain stem and spinal cord involvement and leg spasticity: report of two cases and review of literature].
J. Zhang
,
M. Liu
,
+4 authors
Y. Wu
Zhonghua er ke za zhi = Chinese journal of…
2018
Corpus ID: 3822371
Objective: To analyze the clinical and imaging features of hypomyelination with brain stem and spinal cord involvement and leg…
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2017
2017
In vivo characterization of the aspartyl-tRNA synthetase DARS: Homing in on the leukodystrophy HBSL
Dominik Fröhlich
,
Alexandra K. Suchowerska
,
+9 authors
M. Klugmann
Neurobiology of Disease
2017
Corpus ID: 3463231
2017
2017
Hypomyelination with Brainstem and Spinal Cord Abnormalities and Leg Spasticity (HBSL)
N. Ulrick
,
A. Vanderver
2017
Corpus ID: 79861365
Leukodystrophies are genetic disorders of the myelin that affect 1 in 7000 live births, 50% of which remain undiagnosed after…
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2013
2013
O14 – 1917 Hypomyelination with brain stem and spinal cord involvement and severe leg spasticity (HBSL): mutations in DARS are responsible
N. Wolf
,
Van Der Knaap
,
+11 authors
R. Taft
2013
Corpus ID: 72435766
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