Latest papers

Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder.

Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor.

[Leukodystrophies: diseases of white matter of the nervous system].

Conversion of a normal MRI into an MRI showing a cystic leukoencephalopathy is not a known feature of vanishing white matter.

[CACH/VWM syndrome and leucodystrophies related to EIF2B mutations].

Myelin mishaps.

Phenotypic characterization of hypomyelination and congenital cataract.

Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.

Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology.

Prazosin increases immobility episodes in taiep rats without changes in the properties of alpha1 receptors.

The nuclear envelope, a key structure in cellular integrity and gene expression.

Novel mutation in EIF2B gene in a case of adult-onset leukoencephalopathy with vanishing white matter.

CNS hypomyelination in Rat Terrier dogs with congenital goiter and a mutation in the thyroid peroxidase gene.

The ether lipid-deficient mouse: tracking down plasmalogen functions.

Lamin B1 duplications cause autosomal dominant leukodystrophy.

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

Autosomal dominant leukodystrophy and childhood ataxia with central nervous system hypomyelination syndrome.

The spectrum of mutations for the diagnosis of vanishing white matter disease.

Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion.

Leukodystrophies: clinical and genetic aspects.