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Neurology|February 1, 1995
The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigreesP G Barth, G Blennow, H G Lenard, et al.European Journal of Pediatrics|October 1, 1992
Simultaneous measurement, using flow cytometry, of radiosensitivity and defective mitogen response in ataxia telangiectasia and related syndromesH Seyschab, D Schindler, R Friedl, et al.Journal of Inherited Metabolic Disease|January 1, 1993
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenaseP G Barth, G F Hoffmann, J Jaeken, et al.European Journal of Pediatrics|December 1, 1990
Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathiesG C Korenke, H A Bentlage, W Ruitenbeek, et al.Annals of Neurology|July 1, 1992
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic diseaseP G Barth, G F Hoffmann, J Jaeken, et al.Pediatrics|December 1, 1991
Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathyG F Hoffmann, F K Trefz, P G Barth, et al.International Journal of Cancer|September 29, 2000
C-MYC expression in medulloblastoma and its prognostic valueJ Herms, I Neidt, B Lüscher, et al.Annals of Neurology|October 18, 2001
Autosomal dominant glut-1 deficiency syndrome and familial epilepsyK Brockmann, D Wang, C G Korenke, et al.Journal of the Neurological Sciences|December 14, 2002
Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscleC G Bönnemann, T G Thompson, P F M van der Ven, et al.Proceedings of the National Academy of Sciences of the United States of America|March 3, 1999
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathyK Pelin, P Hilpelä, K Donner, et al.Pageof 16