Advances in the diagnosis of leukoencephalopathies.

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Advances in the diagnosis of leukoencephalopathies.

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Advances in the diagnosis of leukoencephalopathies.

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Advances in the diagnosis of leukoencephalopathies.

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Advances in the diagnosis of leukoencephalopathies.

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P1476

Advances in the diagnosis of leukoencephalopathies.

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P2093

Doris D M Lin

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Sakkubai Naidu

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P2860

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

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259-273

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scholarly article

P356

10.1517/17530059.2012.665869

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P407

English

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P478

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P577

2012-06-05T00:00:00Z

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23480738

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