De cirkel sluiten |
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Dertig jaar kinderneurologie : Liber Amicorum Prof. dr. F.J.M. Gabreëls : persoonlijke en wetenschappelijke verhandelingen ter gelegenheid van het afscheid van Fons Gabreëls als hoogleraar in de kinderneurologie aan het Universitair Medisch Centrum St. Radboud, Nijmegen |
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Electron-microscopic heterogeneity of onion-bulb neuropathies of the Déjerine-Sottas type. Two patients in one family with the variant described by Lyon (1969). |
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[The gangliosidoses] |
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Generalized hypertrophic myopathy associated with chorioretinal dystrophy and struma lymphomatosa--a case report |
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Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood. |
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Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy |
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Heterogeneity of spina bifida. |
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Histology of hereditary neuralgic amyotrophy |
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Hyperemesis gravidarum, a disorder with complications |
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Hyperkalemic periodic paralysis in Gordon's syndrome: a possible defect in atrial natriuretic peptide function |
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Hypertrophy of peripheral nerves in the syndrome of multiple mucosal neuromas, endocrine tumours and Marfanoid habitus. Autonomic disturbances and sural nerve findings |
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Idiopathic neuralgic amyotrophy in children. A distinct phenotype compared to the adult form |
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Immunoglobulin treatment in epilepsy, a review of the literature |
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Increased Cerebrospinal Fluid Glycine: A Biochemical Marker for a Leukoencephalopathy With Vanishing White Matter |
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Infective acute transverse myelopathy. Report of two cases. |
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Intellectual sequelae of primary non-obstructive hydrocephalus in infancy: analysis of 50 cases. |
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Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature |
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Involvement of sural nerve in neuronal ceroid-lipofuscinoses: report of two cases |
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Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation |
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Lafora disease: a quantitative morphological and biochemical study of the cerebral cortex. |
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Lafora's disease. Comparison of inclusion bodies in skin and in brain. |
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Laminin-alpha2 (merosin), beta-dystroglycan, alpha-sarcoglycan (adhalin), and dystrophin expression in congenital muscular dystrophies: an immunohistochemical study. |
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Letter: A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness |
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Long-term sequelae of brain damage from closed head injury in children and adolescents. |
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The Martin-Bell syndrome: a psychological, logopaedic and cytogenetic study of two affected brothers |
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MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. |
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Melanotic rhabdomyomedulloblastoma or teratoid tumour of the cerebellar vermis |
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MELAS syndrome. Report of two patients, and comparison with data of 24 patients derived from the literature |
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Mental retardation associated with parental smoking and alcohol consumption before, during, and after pregnancy |
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Mitochondrial myopathies |
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Molecular genetic analysis of human folate receptors in neural tube defects |
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MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy |
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Multicore myopathy with restrictive cardiomyopathy |
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Muscle reflexes and synergies triggered by an unexpected support surface height during walking. |
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Neonatal status convulsivus, spongiform encephalopathy, and low activity of Na+/K(+)-ATPase in the brain. |
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Neuroinvasion by human herpesvirus type 7 in a case of exanthem subitum with severe neurologic manifestations |
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The neuropathy of Cockayne syndrome |
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Neurophysiological studies in the Leigh syndrome. |
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Nijmegen breakage syndrome: a neuropathological study |
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Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1. |
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Nonmuscular involvement in merosin-negative congenital muscular dystrophy |
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Occupational exposure and defects of the central nervous system in offspring: review |
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A patient with pyruvate carboxylase deficiency in the liver: treatment with aspartic acid and thiamine. |
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Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression |
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[Perinatal morbidity] |
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Phenotypic expression in mucopolysaccharidosis VII. |
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Planning of syllables in children with developmental apraxia of speech |
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Polyglucosan bodies in brain tissue: a systematic study. |
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Presence of cerebral parathyroid hormone--responsive adenylcyclase in humans |
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The prevalence of mental retardation: a critical review of recent literature. |
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Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies |
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Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patients. |
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Psychometric assessment of families with X-linked mental retardation. |
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Pyruvate carboxylase activity is not abnormal in fibroblasts of patients with Friedreich's ataxia |
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Pyruvate dehydrogenase deficiency restricted to brain. |
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Quantitative assessment of speech in myotonic dystrophy |
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Recessively inherited 'pure' spastic paraplegia: case study. |
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Recurrent alternating facial paralysis and malignant hypertension |
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A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). |
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Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency |
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Rhabdomyolysis associated with malaria tertiana in a patient with myoadenylate deaminase deficiency. |
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Scheie Syndrome Presenting as Myopathy |
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Seasonal variation in the prevalence of Down syndrome at birth: a review |
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Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients. |
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Somatosensory evoked potentials and cognitive sequelae in children with closed head-injury. |
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Spina bifida and parental occupation |
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Spinal angiomas. The meaning of cerebrospinal fluid lactic acid in the etiology and differential diagnosis of transverse myelopathy |
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Spinal muscular atrophy combined with congenital heart disease: a report of two cases. |
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The status of HMSN type III. |
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Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. |
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Subdural empyema. The importance of rapid diagnosis |
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Sural nerve biopsy in the diagnosis of progressive cerebral degenerative disorders of childhood. A retrospective study. |
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The syndrome of hypertension and hyperkalaemia with normal glomerular function (Gordon's syndrome). A pathophysiological study |
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A systematic review for evidence of efficacy of anticholinergic drugs to treat drooling |
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Towards a standardised assessment procedure for developmental apraxia of speech. |
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Traumatic versus perinatally acquired dysarthria: assessment by means of speech-like maximum performance tasks. |
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The treatment of drooling by ultrasound-guided intraglandular injections of botulinum toxin type A into the salivary glands. |
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Treatment of leptomeningeal dissemination of medulloblastoma. Report of a case with a long-term survival |
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The utility of electroencephalography and cerebral computed tomography in children with mild and moderately severe closed head injuries. |
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Validity and reproducibility of a new diagnostic motor performance test in children with suspected myopathy. |
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Validity and reproducibility of the Jamar dynamometer in children aged 4-11 years. |
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