Published in Neuropadiatrie on February 01, 1974
New therapeutic targets in rare genetic skeletal diseases. Expert Opin Orphan Drugs (2015) 0.87
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Schwartz-Jampel syndrome in two daughters of first cousins. J Neurol Neurosurg Psychiatry (1978) 0.79
Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome. J Med Genet (1984) 0.75
[Epileptic insults, cerebral infarction and rhabdomyolysis as complications of amphetamine use]. Ned Tijdschr Geneeskd (1996) 2.04
Reduction of sympathetic hyperactivity by enalapril in patients with chronic renal failure. N Engl J Med (1999) 2.03
Recurrent ischemia in symptomatic carotid occlusion: prognostic value of hemodynamic factors. Neurology (2000) 1.80
Cognitive impairment in tuberous sclerosis complex is a multifactorial condition. Neurology (2007) 1.64
Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. Neurology (2007) 1.54
A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. Eur J Pediatr (1986) 1.46
[Intracranial EEG monitoring for epilepsy surgery using electrode grids--results in the first 22 Dutch patients]. Ned Tijdschr Geneeskd (2006) 1.39
Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine. Arch Neurol (1991) 1.39
The attachment of filamentous segmented micro-organisms to the distal ileum wall of the mouse: a scanning and transmission electron microscopy study. Lab Anim (1987) 1.37
Mitochondrial myopathies. Clinical, morphological and biochemical aspects. Eur J Pediatr (1984) 1.28
Recovery of amplitude integrated electroencephalographic background patterns within 24 hours of perinatal asphyxia. Arch Dis Child Fetal Neonatal Ed (2005) 1.25
Agenesis of the corpus callosum, infantile spasms, ocular anomalies (Aicardi's syndrome). Clinical and pathologic findings. Neurology (1976) 1.23
Temporal lobe epilepsy: the various MR appearances of histologically proven mesial temporal sclerosis. AJNR Am J Neuroradiol (1994) 1.19
Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise. J Pediatr (1975) 1.15
Neurological manifestations of the hypereosinophilic syndrome (HES). Clin Neurol Neurosurg (1988) 1.13
Measurement of the conductivity of skull, temporarily removed during epilepsy surgery. Brain Topogr (2003) 1.13
X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. Ann Neurol (1993) 1.12
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
Interictal magnetoencephalography and the irritative zone in the electrocorticogram. Brain (2009) 1.10
Transcranial pulsed Doppler measurements of blood velocity in the middle cerebral artery: reference values at rest and during hyperventilation in healthy volunteers in relation to age and sex. Ultrasound Med Biol (1989) 1.09
Pyruvate oxidation in rat and human skeletal muscle mitochondria. Biochem Med (1978) 1.09
Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure. Clin Chim Acta (1985) 1.08
Systemic effects of inhalational methyl bromide poisoning: a study of nine cases occupationally exposed due to inadvertent spread during fumigation. Br J Ind Med (1993) 1.07
Quantitation in x ray microanalysis of biological bulk specimens. Scan Electron Microsc (1980) 1.07
Developmental biology of Pneumocystis carinii, and alternative view on the life cycle of the parasite. Z Parasitenkd (1978) 1.04
Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency. Eur J Pediatr (1984) 1.03
Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family. Neuropadiatrie (1980) 1.02
The need for correct realistic geometry in the inverse EEG problem. IEEE Trans Biomed Eng (1999) 0.99
Collateral flow and ischemic brain lesions in patients with unilateral carotid artery occlusion. Neurology (2003) 0.99
Axilla skin biopsy: a reliable test for the diagnosis of Lafora's disease. Ann Neurol (1987) 0.98
Experimentally induced subacute sclerosing panencephalitis in young dogs. Neurology (1973) 0.98
Prospective study of the prevalence of Alzheimer-type dementia in institutionalized individuals with Down syndrome. Am J Ment Retard (1997) 0.98
Hypertrophic cardiomyopathy associated with a mitochondrial myopathy of voluntary muscles and congenital cataract. Br Heart J (1985) 0.97
Differentiation of human skeletal muscle cells in culture: maturation as indicated by titin and desmin striation. Cell Tissue Res (1992) 0.96
Tight junctional permeability of the resting and carbachol stimulated exocrine rabbit pancreas. Histochemistry (1985) 0.95
Sustained bilateral hemodynamic benefit of contralateral carotid endarterectomy in patients with symptomatic internal carotid artery occlusion. Stroke (2001) 0.95
Lafora disease: a quantitative morphological and biochemical study of the cerebral cortex. Clin Neuropathol (1987) 0.95
Combined use of subdural and intracerebral electrodes in preoperative evaluation of epilepsy. Neurosurgery (1990) 0.93
Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy. Eur J Pediatr (1989) 0.91
Melanotic rhabdomyomedulloblastoma or teratoid tumour of the cerebellar vermis. Clin Neurol Neurosurg (1981) 0.91
Changes in health-related quality of life after carotid endarterectomy. Eur J Vasc Endovasc Surg (1998) 0.91
A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis. Eur J Pediatr (1993) 0.89
A longitudinal study of collateral flow patterns in the circle of Willis and the ophthalmic artery in patients with a symptomatic internal carotid artery occlusion. Stroke (2000) 0.88
Value of transcranial Doppler indices in predicting raised ICP in infantile hydrocephalus. A study with review of the literature. Childs Nerv Syst (1995) 0.88
Relevance of temporal lobe white matter changes in hippocampal sclerosis. Magnetic resonance imaging and histology. Invest Radiol (1999) 0.88
Is the EEG really normal in lacunar stroke? J Neurol Neurosurg Psychiatry (1990) 0.87
Lafora's disease. Comparison of inclusion bodies in skin and in brain. Arch Neurol (1986) 0.87
Ophthalmoplegia-plus, a real nosological entity. Acta Neurol Scand (1978) 0.87
Estimation of NADH oxidation in human skeletal muscle mitochondria. Clin Chim Acta (1986) 0.87
Familial lissencephaly with extreme neopallial hypoplasia. Brain Dev (1982) 0.87
Is the corrected QT interval a reliable indicator of the severity of diabetic autonomic neuropathy? Diabetes Care (1993) 0.86
Myoclonic disorders of spinal origin. Clin Neurol Neurosurg (1976) 0.86
Monitoring intracranial dynamics by transcranial Doppler--a new Doppler index: trans systolic time. Ultrasound Med Biol (1995) 0.85
A comparative electron microscopic and histochemical investigation of membrane-coating granules in normal human skin and in the skin of psoriasis vulgaris patients. Dermatologica (1969) 0.85
Chronic progressive external ophthalmoplegia in a heredo-ataxia: neurogenic or myogenic? A clinical, neuropathological and submicroscopic study. Acta Neurol Scand (1977) 0.85
The cytochemical localization of adenylate cyclase: fact or artifact? J Histochem Cytochem (1978) 0.85
Electroencephalography improves the prediction of functional outcome in the acute stage of cerebral ischemia. Stroke (1994) 0.84
Which risk factors predict the levodopa response in fluctuating Parkinson's disease? Ann Neurol (1990) 0.84
Electron microscopic investigation of inclusion material in a case of adult metachromatic leukodystrophy; observations on kidney biopsy, peripheral nerve and cerebral white matter. Acta Neuropathol (1975) 0.84
Neurologic manifestations of homocystinuria. Clin Neurol Neurosurg (1981) 0.84
Bone marking and lead intoxication. Early pathological changes in osteoclasts. Virchows Arch B Cell Pathol (1974) 0.84
Observations on platelet ultrastructure in familial thrombocytopathic thrombocytopenia. Am J Pathol (1968) 0.84
Transcranial pulsed Doppler measurements of blood flow velocity in the middle cerebral artery: reference values at rest and during hyperventilation in healthy children and adolescents in relation to age and sex. Ultrasound Med Biol (1990) 0.84
X-linked congenital hydrocephalus. Clin Neurol Neurosurg (1982) 0.83
Diazepam-enhanced beta activity in Sturge Weber syndrome: its diagnostic significance in comparison with MRI. Clin Neurophysiol (2002) 0.83
Effect of the extra-intracranial (STA-MCA) arterial anastomosis on EEG and cerebral blood flow: a controlled study of patients with unilateral cerebral ischemia. Stroke (1982) 0.83
'Normalization' of germfree mice with anaerobically cultured caecal flora of 'normal' mice. Lab Anim (1984) 0.83
The use of preoperative transcranial Doppler variables to predict which patients do not need a shunt during carotid endarterectomy. Eur J Vasc Endovasc Surg (2000) 0.82
1H and 31P NMR measurement of cerebral lactate, high-energy phosphate levels, and pH in humans during voluntary hyperventilation: associated EEG, capnographic, and Doppler findings. Magn Reson Med (1989) 0.82
Changes in volume densities and distribution of mitochondria in rat skeletal muscle after chronic hypoxia. Int J Exp Pathol (1992) 0.82
Microtubules in Pneumocystis carinii. Z Parasitenkd (1976) 0.82
Post operative radiation therapy in the management of brain astrocytomata-retrospective study of 142 patients. Int J Radiat Oncol Biol Phys (1981) 0.82
Cerebrovascular reserve capacity is preserved in a population-based sample of patients with type 2 diabetes mellitus. Cerebrovasc Dis (2006) 0.82
Changes in quantitative EEG and blood flow velocity due to standardized hyperventilation; a model of transient ischaemia in young human subjects. Electroencephalogr Clin Neurophysiol (1988) 0.82
Ataxia-telangiectasia (Louis Bar syndrome): with special reference to findings in the peripheral nervous system. Psychiatr Neurol Neurochir (1974) 0.82
Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity. Eur J Pediatr (1988) 0.82
Changes in cerebral oxygen uptake and cerebral electrical activity during defibrillation threshold testing. Anesth Analg (1998) 0.82
Self-mutilation in a case of 49, XXXXY chromosomal constitution. J Ment Defic Res (1975) 0.81
Tuberous sclerosis complex and its founders. J Neurol Neurosurg Psychiatry (2004) 0.81
Abnormal expression of intermediate filament proteins in X-linked myotubular myopathy is not reproduced in vitro. Neuromuscul Disord (1995) 0.81
Synaptosomal glutamate and GABA transport in patients with temporal lobe epilepsy. J Neurosci Res (2004) 0.81
[Anthropologic aspects of Parkinson's disease]. Nervenarzt (1972) 0.81
Arachnoid cyst simulating intrameatal acoustic neuroma. Neuroradiology (1976) 0.80
The existence of two sources in rolandic epilepsy: confirmation with high resolution EEG, MEG and fMRI. Brain Topogr (2001) 0.80
Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins. J Neurol Sci (1995) 0.80
A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency. Eur J Pediatr (1983) 0.80
Absorption of clonazepam after intranasal and buccal administration. Br J Clin Pharmacol (1995) 0.80
Hypoxic neuropathy versus diabetic neuropathy. An electrophysiological study in rats. J Neurol Sci (1992) 0.80
Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders. Neuromuscul Disord (1995) 0.80
Acinetobacter, an infrequent cause of community acquired bacterial meningitis. Clin Neurol Neurosurg (1993) 0.80
Vimentin and desmin expression in degenerating and regenerating dystrophic murine muscles. Virchows Arch B Cell Pathol Incl Mol Pathol (1991) 0.80
Quantitative analysis of 18/FDG-PET in the presurgical evaluation of patients suffering from refractory partial epilepsy. Comparison with CT, MRI, and combined subdural and depth. EEG. Acta Neurochir Suppl (Wien) (1990) 0.80
Keratinosomes in psoriatic skin. Acta Derm Venereol (1968) 0.80
An autosomal dominant type of congenital muscular dystrophy. Brain Dev (1986) 0.80
Two types of mitochondrial crystals in diseased human skeletal muscle fibers. Muscle Nerve (1988) 0.80
Regional brain glucose metabolism in patients with complex partial seizures investigated by intracranial EEG. Epilepsy Res (1992) 0.80
Lipid peroxidation in homocysteinaemia. J Inherit Metab Dis (1992) 0.79
Computed tomography in the diagnosis of Wernicke's encephalopathy: a radiological-neuropathological correlation. Ann Neurol (1984) 0.79