Published in Dev Med Child Neurol on October 01, 1992
Mild head injury in preschool children: evidence that it can be associated with a persisting cognitive defect. J Neurol Neurosurg Psychiatry (1995) 1.05
Injury severity variables as predictors of WeeFIM scores in pediatric TBI: Time to follow commands is best. J Pediatr Rehabil Med (2009) 1.01
Time to follow commands remains the most useful injury severity variable for predicting WeeFIM® scores 1 year after paediatric TBI. Brain Inj (2013) 0.83
A new leukoencephalopathy with vanishing white matter. Neurology (1997) 1.90
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain (2000) 1.75
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol (1993) 1.70
Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients. Neurology (1999) 1.67
Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology (2000) 1.63
Congenital myotonic dystrophy; a report on thirteen cases and a review of the literature. J Neurol Sci (1993) 1.63
Idiopathic neuralgic amyotrophy in children. A distinct phenotype compared to the adult form. Neuropediatrics (2000) 1.50
Congenital muscular dystrophy. J Pediatr (1989) 1.48
A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. Eur J Pediatr (1986) 1.46
Ileus in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. Neth J Med (1998) 1.42
Familial adult-onset muscular dystrophy with leukoencephalopathy. Ann Neurol (1992) 1.40
Delay in diagnosis of X-linked adrenoleukodystrophy. Clin Neurol Neurosurg (1993) 1.40
Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine. Arch Neurol (1991) 1.39
Canavan disease: value of N-acetylaspartic aciduria? Neuropediatrics (1991) 1.38
Somatic hypotheses of war syndromes. Eur J Clin Invest (2000) 1.38
Pharmacokinetics of di-n-propylacetate in epileptic patients. Eur J Clin Pharmacol (1975) 1.35
De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet (1992) 1.30
Assessment of fluid responsiveness in mechanically ventilated cardiac surgical patients. Eur J Anaesthesiol (2005) 1.26
Maternal occupational exposure during pregnancy and the risk of spina bifida. Occup Environ Med (1996) 1.22
Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis. Brain (1999) 1.17
Tremor in Latin texts of Dutch physicians: 16th-18th centuries. Mov Disord (1997) 1.16
Reirradiation of primary brain tumours: survival, clinical response and prognostic factors. Radiother Oncol (2001) 1.14
Some effects, in man, of varying the load of glucose, sucrose, fructose, or sorbitol on various metabolites in blood. Am J Clin Nutr (1978) 1.14
Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature. Clin Neurol Neurosurg (1987) 1.12
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. Brain (2001) 1.11
Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem (1998) 1.09
Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin Chem (1995) 1.08
Rhabdomyolysis: a review of the literature. Clin Neurol Neurosurg (1993) 1.07
Neuroinvasion by human herpesvirus type 7 in a case of exanthem subitum with severe neurologic manifestations. Neurology (1999) 1.07
Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths. Brain (1990) 1.05
Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency. Clin Chim Acta (1984) 1.03
Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter. J Child Neurol (1999) 1.03
Bilateral spontaneous carotid-cavernous fistulas, associated with systemic hypertension and generalised arteriosclerosis: a case report. J Neurol Neurosurg Psychiatry (1988) 1.02
Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1. Hum Genet (1993) 1.02
Progressive idiopathic strio-pallido-dentate calcinosis (Fahr's disease) with autosomal recessive inheritance. Report of three siblings. Eur Neurol (1983) 1.01
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. Acta Neuropathol (1995) 1.00
The status of HMSN type III. Neuromuscul Disord (1994) 0.99
Selection of antiepileptic drug polytherapy based on mechanisms of action: the evidence reviewed. Epilepsia (2000) 0.99
Axilla skin biopsy: a reliable test for the diagnosis of Lafora's disease. Ann Neurol (1987) 0.98
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. Neurology (1996) 0.98
Development and malformations of the human pyramidal tract. J Neurol (2004) 0.98
Hereditary neuropathy with liability to pressure palsies: a clinical, electroneurophysiological and morphological study. J Neurol Sci (1993) 0.96
Disturbed oxidative metabolism in subacute necrotizing encephalomyelopathy (Leigh syndrome). Neuropediatrics (1986) 0.96
Autosomal recessive form of hereditary motor and sensory neuropathy type I. Neurology (1992) 0.96
Botulinum toxin A: a new option for treatment of drooling in children with cerebral palsy. Presentation of a case series. Eur J Pediatr (2001) 0.96
The natural history of hereditary neuralgic amyotrophy in the Dutch population: two distinct types? Brain (2000) 0.95
Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients. Neuromuscul Disord (2000) 0.95
Lafora disease: a quantitative morphological and biochemical study of the cerebral cortex. Clin Neuropathol (1987) 0.95
Immune response induced by three Mycobacterium bovis BCG substrains with diverse regions of deletion in a C57BL/6 mouse model. Clin Vaccine Immunol (2008) 0.95
Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I). J Neurol Sci (1992) 0.95
Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis. Hum Genet (1996) 0.95
Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation. Brain (1998) 0.95
Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature. Eur J Paediatr Neurol (2000) 0.95
Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency. Arch Neurol (1995) 0.94
Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies. Hum Genet (1994) 0.94
Cerebrospinal neuron-specific enolase, S-100 and myelin basic protein in neurological disorders. Acta Neurol Scand (1995) 0.94
Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis. Metabolism (1999) 0.93
Mitochondrial encephalomyopathy. Association with an NADH dehydrogenase deficiency. Arch Neurol (1987) 0.92
A mentally retarded child with a translocation involving chromosomes 12 and 19. J Med Genet (1975) 0.92
The development of the diencephalon of the Chinese hamster. An investigation of the validity of the criteria of subdivision of the brain. Acta Anat Suppl (Basel) (1972) 0.92
Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Ann Neurol (1994) 0.92
Morphology of the cervical spinal cord on computed myelography. Neuroradiology (1979) 0.91
Melanotic rhabdomyomedulloblastoma or teratoid tumour of the cerebellar vermis. Clin Neurol Neurosurg (1981) 0.91
Endothelial apoptosis is induced by serum of patients after cardiopulmonary bypass. Eur J Cardiothorac Surg (2000) 0.91
Phenotypic expression in mucopolysaccharidosis VII. J Neurol Neurosurg Psychiatry (1987) 0.91
Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis. Arch Neurol (2000) 0.90
Abeta fibers mediate cutaneous reflexes during human walking. J Neurophysiol (2000) 0.90
Spina bifida and parental occupation. Epidemiology (1996) 0.90
Spinal muscular atrophy combined with congenital heart disease: a report of two cases. Neuropediatrics (1996) 0.89
Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency. Neurology (1999) 0.89
Preterm birth in Sjögren-Larsson syndrome. Neuropediatrics (1999) 0.89
The electron microscopic study of the appendix as early diagnostic means in Batten-Spielmeyer-Vogt disease. Acta Neuropathol (1972) 0.88
Cardiac resynchronization therapy in patients with absent right but persistent left superior vena cava. Thorac Cardiovasc Surg (2009) 0.88
Argininosuccinic aciduria: clinical and biochemical findings in three children with the late onset form, with special emphasis on cerebrospinal fluid findings of amino acids and pyrimidines. Neuropediatrics (1993) 0.88
Severe central-nervous-system toxicity associated with cyclosporin. Lancet (1985) 0.88
Connatal Pelizaeus-Merzbacher disease with congenital stridor in two maternal cousins. Acta Neuropathol (1981) 0.88
Hereditary motor and sensory neuropathies. Present status of types I, II and III. Clin Neurol Neurosurg (1993) 0.88
Monotherapy versus polytherapy for epilepsy: a multicenter double-blind randomized study. Epilepsia (2001) 0.87
Lafora's disease. Comparison of inclusion bodies in skin and in brain. Arch Neurol (1986) 0.87
Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patients. Clin Neurol Neurosurg (1983) 0.87
Conventional radiotherapy combined with carbogen breathing and nicotinamide for malignant gliomas. Radiother Oncol (1995) 0.86
Reference values for amino acids in cerebrospinal fluid of children determined using ion-exchange chromatography with fluorimetric detection. Clin Chim Acta (1989) 0.86
Diffusion of the new antiepileptic drug lamotrigine in Dutch clinical practice. Eur J Clin Pharmacol (2004) 0.86
The effects of insulin and beta-adrenergic stimulation on glucose transport, glut 4 and PKB activation in the myocardium of lean and obese non-insulin dependent diabetes mellitus rats. Mol Cell Biochem (2001) 0.86
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). J Inherit Metab Dis (1999) 0.86
Reappraisal of polytherapy in epilepsy: a critical review of drug load and adverse effects. Epilepsia (1997) 0.85
Reference values of blood components related to fuel metabolism in children after an overnight fast. Clin Chim Acta (1985) 0.85
White matter abnormalities in congenital muscular dystrophy. J Neurol Sci (1995) 0.85
Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs. Clin Genet (1983) 0.85
Rhabdomyolysis associated with malaria tertiana in a patient with myoadenylate deaminase deficiency. Trop Geogr Med (1993) 0.85
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. Hum Genet (1998) 0.85
Intramedullary spinal cord abscess. A case report. Spine (Phila Pa 1976) (1995) 0.85
Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy. Ann Neurol (1991) 0.84
Congenital muscular dystrophy with eye and brain malformations in six Dutch patients. Neuropediatrics (1992) 0.84