[Encephalomyelopathy, cardiomyopathy, cataract and changes in the retinal pigment epithelium resulting from a cytochrome c oxidase deficiency].

PubWeight™: 0.77‹?›

🔗 View Article (PMID 2846943)

Published in Klin Padiatr on December 01, 1988

Authors

L Sieverding1, A A Schmaltz, J Apitz, C A Sengers, W Ruitenbeek, J M Trijbels, G Schroth

Author Affiliations

1: Abteilung für pädiatrische Kardiologie, Universitätskinderklinik Tübingen.

Articles by these authors

Outcome of survivors of accidental deep hypothermia and circulatory arrest treated with extracorporeal blood warming. N Engl J Med (1997) 5.00

Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet (1992) 3.76

Delay in diagnosis of homocystinuria: retrospective study of consecutive patients. BMJ (1996) 2.21

31P NMR spectroscopy detects metabolic abnormalities in asymptomatic patients with hypertrophic cardiomyopathy. Circulation (1998) 2.06

Skeletal muscles of mice deficient in muscle creatine kinase lack burst activity. Cell (1993) 2.04

Percutaneous intervention in saphenous venous grafts: in-stent restenosis lesions are safer than de novo lesions. J Invasive Cardiol (2001) 2.03

A novel capacitative calcium entry channel expressed in excitable cells. EMBO J (1998) 1.95

Clinical and radiological predictors of recanalisation and outcome of 40 patients with acute basilar artery occlusion treated with intra-arterial thrombolysis. J Neurol Neurosurg Psychiatry (2004) 1.90

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol (1999) 1.72

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat (2000) 1.72

Immotile sperm and infertility in mice lacking mitochondrial voltage-dependent anion channel type 3. J Biol Chem (2001) 1.72

Carotid dissection with and without ischemic events: local symptoms and cerebral artery findings. Neurology (2001) 1.71

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol (1993) 1.70

The dilemma of success: percutaneous coronary interventions in patients > or = 75 years of age-successful but associated with higher vascular complications and cardiac mortality. Catheter Cardiovasc Interv (2003) 1.63

Comparison of intra-arterial thrombolysis with conventional treatment in patients with acute central retinal artery occlusion. J Neurol Neurosurg Psychiatry (2005) 1.63

Problems encountered during introduction of Gianturco coils for transcatheter occlusion of the patent arterial duct. Eur Heart J (1997) 1.59

Ischaemic stroke in young adults: predictors of outcome and recurrence. J Neurol Neurosurg Psychiatry (2005) 1.58

Safety of endovascular treatment beyond the 6-h time window in 205 patients. Eur J Neurol (2013) 1.53

Altered Ca2+ responses in muscles with combined mitochondrial and cytosolic creatine kinase deficiencies. Cell (1997) 1.52

Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency. Dev Med Child Neurol (1993) 1.49

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. Am J Hum Genet (1998) 1.49

Carotid artery stenosis, occlusion, and pseudo-occlusion: first-pass, gadolinium-enhanced, three-dimensional MR angiography--preliminary study. Radiology (1998) 1.48

Pulsatile tinnitus--a review of 84 patients. J Neurol (1998) 1.48

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. Eur J Pediatr (1986) 1.46

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem Biophys Res Commun (2000) 1.46

Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens. Biochem Med (1978) 1.46

Use of low-dose ketamine and/or midazolam for pediatric cardiac catheterization. Pediatr Cardiol (2003) 1.45

Estrogen replacement therapy and outcome of coronary balloon angioplasty in postmenopausal women. Am J Cardiol (1998) 1.44

Respiratory chain complex I deficiency. Am J Med Genet (2001) 1.42

Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain. Eur J Pediatr (1995) 1.39

Peri-operative complications following surgical closure of atrial septal defect type II in 232 patients--a baseline study. Eur Heart J (1994) 1.39

Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine. Arch Neurol (1991) 1.39

Bubble at tip of the stent delivery system of the Palmaz-Schatz stent improves trackability to the target site. Cathet Cardiovasc Diagn (1998) 1.39

TRP4 (CCE1) protein is part of native calcium release-activated Ca2+-like channels in adrenal cells. J Biol Chem (2000) 1.37

Local intra-arterial thrombolysis in acute ischemic stroke. Stroke (1998) 1.31

Three different methods for the determination of total homocysteine in plasma. Ann Clin Biochem (1995) 1.30

Early diagnosis of herpes simplex encephalitis by MRI. Neurology (1987) 1.28

Mitochondrial myopathies. Clinical, morphological and biochemical aspects. Eur J Pediatr (1984) 1.28

[Guidelines for therapy of chronic heart failure]. Z Kardiol (2005) 1.24

A dedicated animal model for mechanical thrombectomy in acute stroke. AJNR Am J Neuroradiol (2006) 1.23

Effective doses to patients from paediatric cardiac catheterization. Br J Radiol (2000) 1.23

Assessment of >/=50% and <50% intracranial stenoses by transcranial color-coded duplex sonography. Stroke (1999) 1.22

Intracoronary adenosine administered during percutaneous intervention in acute myocardial infarction and reduction in the incidence of "no reflow" phenomenon. Catheter Cardiovasc Interv (2000) 1.19

L-Ornithine-ketoacid-transaminase deficiency in cultured fibroblasts of a patient with hyperornithinaemia and gyrate atrophy of the choroid and retina. Clin Chim Acta (1977) 1.19

Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease. QJM (1997) 1.19

Dural ectasia of the optic nerve sheath in neurofibromatosis type 1: CT and MR features. J Comput Assist Tomogr (1994) 1.18

Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue. Pediatrics (1977) 1.18

Impact of retrievable stents on acute ischemic stroke treatment. AJNR Am J Neuroradiol (2011) 1.18

Do women develop alcoholic brain damage more readily than men? Alcohol Clin Exp Res (1992) 1.17

Intra-arterial thrombolysis in 24 consecutive patients with internal carotid artery T occlusions. J Neurol Neurosurg Psychiatry (2003) 1.17

Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise. J Pediatr (1975) 1.15

Noonan syndrome: growth and clinical manifestations in 144 cases. Eur J Pediatr (1988) 1.15

Different ipsilateral representations for distal and proximal movements in the sensorimotor cortex: activation and deactivation patterns. Neuroimage (2001) 1.14

Biochemical studies in the liver and muscle of patients with Zellweger syndrome. Pediatr Res (1983) 1.13

Degeneration of the cervical disc: histology compared with radiography and magnetic resonance imaging. Neuroradiology (2005) 1.13

Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature. Clin Neurol Neurosurg (1987) 1.12

Differential investigation of the capacity of succinate oxidation in human skeletal muscle. Clin Chim Acta (1985) 1.11

Diffusion-weighted MRI in cortical ischaemia. Neuroradiology (2004) 1.11

A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome. Ann Neurol (1999) 1.10

Pyruvate oxidation in rat and human skeletal muscle mitochondria. Biochem Med (1978) 1.09

Idiopathic cerebellar ataxia of late onset: natural history and MRI morphology. J Neurol Neurosurg Psychiatry (1990) 1.08

cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. Biochem Biophys Res Commun (1998) 1.08

Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure. Clin Chim Acta (1985) 1.08

Advantage of magnetic resonance imaging in the diagnosis of cerebral infections. Neuroradiology (1987) 1.07

Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet. Neuropediatrics (1992) 1.07

Double-chambered right ventricle in 73 patients: spectrum of the disease and surgical results of transatrial repair. Can J Cardiol (2000) 1.06

Selective intra-arterial fibrinolysis of acute central retinal artery occlusion. Stroke (1998) 1.05

Long-term changes induced by high-dose irradiation of the head and neck region: imaging findings. Radiographics (1997) 1.04

Retardation of myelination due to dietary vitamin B12 deficiency: cranial MRI findings. Pediatr Radiol (1997) 1.04

The clinical picture and diagnosis of diphtheritic carditis in children. Eur J Pediatr (1998) 1.04

Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle. Neurology (1996) 1.04

Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency. Eur J Pediatr (1984) 1.03

Symptomatic intracranial haemorrhage after intra-arterial thrombolysis in acute ischaemic stroke: assessment of 294 patients treated with urokinase. J Neurol Neurosurg Psychiatry (2007) 1.03

Recanalisation of middle cerebral artery occlusion after intra-arterial thrombolysis: different recanalisation grading systems and clinical functional outcome. J Neurol Neurosurg Psychiatry (2005) 1.02

Cytoarchitectural and metabolic adaptations in muscles with mitochondrial and cytosolic creatine kinase deficiencies. Mol Cell Biochem (1998) 1.02

Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders. J Bioenerg Biomembr (1998) 1.02

Structure and mRNA expression of a bovine trp homologue related to mammalian trp2 transcripts. FEBS Lett (1998) 1.00

Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. J Inherit Metab Dis (1986) 0.99

Nontraumatic spinal epidural hematomas. MR features. Acta Radiol (1997) 0.99

Diffusion-weighted MRI in acute spinal cord ischaemia. Neuroradiology (2003) 0.99

Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle. Virchows Arch A Pathol Anat Histopathol (1983) 0.99

Magnetic resonance imaging of spinal meningiomas and neurinomas. Improvement of imaging by paramagnetic contrast enhancement. J Neurosurg (1987) 0.98

Hypertrophic cardiomyopathy associated with a mitochondrial myopathy of voluntary muscles and congenital cataract. Br Heart J (1985) 0.97

Susceptibility-weighted MR imaging for diagnosis of capillary telangiectasia of the brain. AJNR Am J Neuroradiol (2011) 0.96

Disturbed oxidative metabolism in subacute necrotizing encephalomyelopathy (Leigh syndrome). Neuropediatrics (1986) 0.96

Tachyarrhythmic syncopes in children with structurally normal hearts with and without QT-prolongation in the electrocardiogram. Eur J Pediatr (1982) 0.96

Changes on diffusion-weighted MRI with focal motor status epilepticus: case report. Neuroradiology (2003) 0.95

In vivo evaluation of the first dedicated combined flow-restoration and mechanical thrombectomy device in a swine model of acute vessel occlusion. AJNR Am J Neuroradiol (2010) 0.95

Early assessment of brain maturation by MR imaging segmentation in neonates and premature infants. AJNR Am J Neuroradiol (2006) 0.95

Autologous fat injection for soft tissue augmentation in the face: a safe procedure? Aesthetic Plast Surg (1998) 0.95

Creatine kinase (CK) in skeletal muscle energy metabolism: a study of mouse mutants with graded reduction in muscle CK expression. Proc Natl Acad Sci U S A (1994) 0.95

Extensive white-matter changes in case of adult polyglucosan body disease. Neuroradiology (2001) 0.95

Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation. J Neurol Sci (1994) 0.95

Familial NADH: Q1 oxidoreductase (complex I) deficiency: variable expression and possible treatment. J Inherit Metab Dis (1989) 0.95