Hypomyelinating leukodystrophy (HLD) is genetic demyelinating or dysmyelinating disease and is associated with at least 13 responsible genes. The mutations seem likely cause the functional deficiency of their gene products. HLD4- and HLD5-associated HSPD1 and FAM126A mutations affect biochemical properties of the gene products (Miyamoto et al. (2015,2014) [1,2]). Herein we provide the data regarding the effects of HLD6-associated tubulin beta 4A (TUBB4A) mutations on the properties
BackgroundLeukodystrophies are a large group of inherited diseases of CNS myelin. There are few trea...
The data is related to the research article entitled “Hypomyelinating leukodystrophy-associated miss...
Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with ext...
The article presents the results of long-term dynamics of the clinical and radiological picture of a...
Background Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) was first descri...
Hypomyelinating leukodystrophies are a heterogeneous group of disorders. Simons et al. identify four...
Congenital hypomyelinating leukodystrophies(HLDs) is a spectrum of genetic disorders with deficiency...
Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that ...
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary leukoe...
ObjectiveWe present a series of unrelated patients with isolated hypomyelination, with or without mi...
Hypomyelinating leukodystrophies are heritable disorders defined by lack of development of brain mye...
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary leukoe...
Hypomyelinating leukodystrophies (HLDs) are a rare group of heterogeneously genetic disorders charac...
Objective: Our goal was to define the genetic cause of the profound hypomyelination in the taiep rat...
OBJECTIVE: To study the clinical and radiologic spectrum and genotype-phenotype correlation of 4H (h...
BackgroundLeukodystrophies are a large group of inherited diseases of CNS myelin. There are few trea...
The data is related to the research article entitled “Hypomyelinating leukodystrophy-associated miss...
Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with ext...
The article presents the results of long-term dynamics of the clinical and radiological picture of a...
Background Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) was first descri...
Hypomyelinating leukodystrophies are a heterogeneous group of disorders. Simons et al. identify four...
Congenital hypomyelinating leukodystrophies(HLDs) is a spectrum of genetic disorders with deficiency...
Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that ...
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary leukoe...
ObjectiveWe present a series of unrelated patients with isolated hypomyelination, with or without mi...
Hypomyelinating leukodystrophies are heritable disorders defined by lack of development of brain mye...
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary leukoe...
Hypomyelinating leukodystrophies (HLDs) are a rare group of heterogeneously genetic disorders charac...
Objective: Our goal was to define the genetic cause of the profound hypomyelination in the taiep rat...
OBJECTIVE: To study the clinical and radiologic spectrum and genotype-phenotype correlation of 4H (h...
BackgroundLeukodystrophies are a large group of inherited diseases of CNS myelin. There are few trea...
The data is related to the research article entitled “Hypomyelinating leukodystrophy-associated miss...
Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with ext...