Concepedia

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

Martine Tétreault, Karine Choquet, Simona Orcesi, Davide Tonduti, Umberto Balottin, Martin Teichmann, Sébastien Fribourg, Raphael Schiffmann, Bernard Brais, Adeline Vanderver,

The American Journal of Human Genetics · 2011 · 187 citations · 18 references

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18

Tissue-Specific Differences in Human Transfer RNA Expression

Kimberly A. Dittmar, Jeffrey M. Goodenbour, Tao Pan · PLoS Genetics · 2006 · 624 citations · Full text

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Invited Article: An MRI-based approach to the diagnosis of white matter disorders

Raphael Schiffmann, Marjo S. van der Knaap · Neurology · 2009 · 550 citations · Full text

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

Gert C. Scheper, Thom van der Klok, Rob J. van Andel et al. · Nature Genetics · 2007 · 453 citations

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Magnetic resonance imaging pattern recognition in hypomyelinating disorders

Marjan E. Steenweg, Adeline Vanderver, Susan Blasér et al. · Brain · 2010 · 285 citations · Full text

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Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Geneviève Bernard, Éliane Chouery, Maria Lisa Putorti et al. · The American Journal of Human Genetics · 2011 · 270 citations · Full text

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