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, +13

Nature Genetics

Amyotrophic Lateral SclerosisMitochondrial FunctionNeurological DisorderMedicinePhysiology +11

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA

Jerome R. Lo Ten Foe, Martin A. Rooimans, Lucine Bosnoyan-Collins, +16

Nature Genetics

Natural SciencesGeneticsExpression CloningGenomic MechanismMolecular Biology +5

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

Peter A. J. Leegwater, Gerre Vermeulen, Andrea A.M. Könst, +13

Nature Genetics

Translational BiologyDisease MechanismWhite MatterPathogenesisImmunology +4

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

Marjo S. van der Knaap, Peter A. J. Leegwater, Andrea A.M. Könst, +5

Annals of Neurology

The Fanconi anaemia group G gene FANCG is identical with XRCC9

Johan P. de Winter, Quinten Waisfisz, Martin A. Rooimans, +13

Nature Genetics

Allelic VariantGenetic DisorderGeneticsGenetic EpidemiologyGenome Structure +6

Positional cloning of the Fanconi anaemia group A gene

Sinoula Apostolou, S.A. Whitmore, Joanna Crawford, +31

Nature Genetics

BiologyGeneticsGene StructureGenome StructureGenetic Mechanism +4

Evidence for at Least Eight Fanconi Anemia Genes

Hans Joenje, Anneke B. Oostra, Mario Wijker, +8

The American Journal of Human Genetics

BiologyGenetic DisorderMedicineGeneticsMolecular Genetics +3

The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM

Johan P. de Winter, Martin A. Rooimans, Laura van der Weel, +13

Nature Genetics

Novel ProteinGeneticsGenome StructureGene StructureGenetic Mechanism +7

Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts

Peter A. J. Leegwater, Bao Qiang Yuan, J. Van der Steen, +10

The American Journal of Human Genetics

Neurobiology Of DiseaseNeurological DisorderMedicinePathogenesisPutative Membrane Protein +7

Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene

Johan P. de Winter, France Léveillé, Carola G.M. van Berkel, +17

The American Journal of Human Genetics

BiologyNatural SciencesGeneticsGene StructureGene Characterization +4