Results 1 -
8
of
8
for
"Leukodystrophy," "hypomyelination," 15
- ... R, Elroy-Stein O. Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis. Mol Genet Metab. 2006 May;88(1):7-15. doi: 10.1016/j.ymgme.2005.10.019. ...
- ... transmission of nerve impulses. In particular, TUBB4A-related leukodystrophy involves hypomyelination, which means that the nervous system has a ... TUBB4A-related hypomyelinating leukodystrophy Genetic Testing ... Hypomyelination with atrophy of basal ganglia and cerebellum National ...
- ... hypogonadotropic hypogonadism (4H syndrome); tremor-ataxia with central hypomyelination (TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy ...
- ... hypogonadotropic hypogonadism (4H syndrome); tremor-ataxia with central hypomyelination (TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy ...
- ... ability of the nervous system to produce myelin (hypomyelination). TUBB4A-related leukodystrophy has a wide range of severity, with a condition called hypomyelination with atrophy of the basal ganglia and cerebellum ( ...
- ... particular, Pelizaeus-Merzbacher-like disease type 1 involves hypomyelination, which means that the nervous system has a reduced ability to form myelin. The signs and symptoms of this condition are very similar to another leukodystrophy called Pelizaeus-Merzbacher disease, but the two disorders ...
- ... of a group of genetic disorders called leukodystrophies. Leukodystrophies are ... involves hypomyelination, which means that the nervous system has a ...
- ... assay. Am J Med Genet A. 2004 Jan 15;124A(2):142-7. doi: 10.1002/ajmg.a.20334. Citation on PubMed Guo F, Bannerman P, Mills Ko E, Miers L, Xu J, Burns T, Li S, Freeman E, McDonough JA, Pleasure D. Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model. Ann Neurol. 2015 ...