van der Knaap's leukoencephalopathy: report of five new cases with emphasis on diffusion-weighted MRI findings

Alexander disease: diagnosis with MR imaging.

Marjo S. van der Knaap, Sakkubai Naidu, Steven N. Breiter et al. · PubMed · 2001 · 340 citations · Full text

Medicine, Neurology, Radiology +17

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 et al. · The American Journal of Human Genetics · 2001 · 269 citations · Full text

Medicine, Molecular Genetics, Neuroscience +11

Diffusion-weighted MR Imaging in the Brain in Children: Findings in the Normal Brain and in the Brain with White Matter Diseases

Volkher Engelbrecht, Axel Scherer, Margarethe Rassek et al. · Radiology · 2002 · 200 citations

Medicine, Pediatrics, Radiology +17

<scp>L</scp>‐2‐hydroxyglutaric acidemia: A novel inherited neurometabolic disease

P. G. Barth, Georg F. Hoffmann, J. Jaeken et al. · Annals of Neurology · 1992 · 151 citations

Life Sciences, Biochemistry, Neurology +15

Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course

Marjo S. van der Knaap, P. G. Barth, Gijs F.J.M. Vrensen et al. · Acta Neuropathologica · 1996 · 140 citations

Medicine, Neurology, Pathology +11