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Human Genetics|March 1, 1993
X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorderD D de Vries, I J de Wijs, G Wolff, et al.
European Journal of Pediatrics|November 1, 1987
Foamy myocardial transformation in a child with a disturbed respiratory chainH Böhles, H Singer, W Ruitenbeek, et al.
Clinical Neuropathology|March 1, 1985
Primary systemic carnitine deficiency under successful therapy: clinical, biochemical, ultrahistochemical and renal clearance studiesW von Petrykowski, U P Ketelsen, E Schmidt-Sommerfield, et al.
American Journal of Respiratory Cell and Molecular Biology|November 4, 2000
Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate geneH Omran, K Häffner, A Völkel, et al.
Neuropediatrics|July 13, 2004
Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)S Rudnik-Schöneborn, P Stolz, R Varon, et al.
Rheumatology International|May 30, 1998
Diagnosis of idiopathic myositis: value of 99mtechnetium pyrophosphate muscle scintigraphy and magnetic resonance imaging in targeted muscle biopsyJ von Kempis, P Kalden, J Gutfleisch, et al.
Annals of Neurology|October 23, 1997
Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy regionR Korinthenberg, M Sauer, U P Ketelsen, et al.
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