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The Journal of Pediatrics|August 1, 1991
Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromesM H Tulinius, E Holme, B Kristiansson, et al.
Pediatric Neurology|May 1, 1989
Mitochondrial myopathy and cardiomyopathy in siblingsM H Tulinius, B O Eriksson, O Hjalmarson, et al.
The Journal of Pediatrics|August 1, 1991
Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigationsM H Tulinius, E Holme, B Kristiansson, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 11, 2000
Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa geneT Martinsson, A Oldfors, N Darin, et al.
Biochimica Et Biophysica Acta|April 12, 1994
Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathyM Houshmand, N G Larsson, E Holme, et al.
Neurology|March 13, 2002
Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with ageH Tajsharghi, L-E Thornell, N Darin, et al.
American Journal of Human Genetics|February 1, 1992
Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her childN G Larsson, H G Eiken, H Boman, et al.
American Journal of Human Genetics|December 1, 1992
Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndromeN G Larsson, M H Tulinius, E Holme, et al.
Human Genetics|September 1, 1995
De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspringM H Tulinius, M Houshmand, N G Larsson, et al.
European Journal of Pediatrics|January 1, 1995
Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletionsM H Tulinius, A Oldfors, E Holme, et al.
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