1,720,974 research outputs found
Macrosomy, precocious puberty, severe oligophrenia and epilepsy in a boy born of consanguineous parents
No full textLa patologia della sostanza bianca alla RM osservata da un clinico.
No full textLa patologia della sostanza bianca alla RM osservata da un clinic
[Electroencephalography of various forms of mucopolysaccharidosis: serial studies of patients and occurence in close relatives]
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Involvement of peripheral sensory fibers in amyotrophic lateral sclerosis: electrophysiological study of 64 cases.
No full textWe report electrophysiological findings of conduction along peripheral sensory fibers in 64 patients with amyotrophic lateral sclerosis. Distribution of the values of action potential amplitudes and conduction velocities of peripheral afferent fibers were significantly lower than in normal age-matched controls. Sensory action potential amplitudes (SAPas) were more affected than sensory conduction velocities (SCVs). When single patients were considered, SAPas were slightly but significantly reduced in 22% of the cases (median nerve 17%, ulnar nerve 11%, and sural nerve 22%). A parallel decrease in SCVs and MCVs in 14 patients in whom the study was repeated over a period of time was also found. All these electrophysiological findings are due to progressive neuronopathy of peripheral sensory fibers. A pathogenetic mechanism is proposed
Patologia oculare nelle encefalo-neuro-miopatie genetiche mitocondriali.
No full textPatologia oculare nelle encefalo-neuro-miopatie genetiche mitocondrial
Motor evoked potentials by magnetic stimulation in hereditary and sporadic ataxia.
No full textWe report the study of motor evoked potentials by magnetic stimulation in 26 subjects with hereditary or sporadic ataxia. The subjects included 15 cases of late onset cerebellar ataxia (12 classified as olivopontocerebellar atrophy (OPCA), 3 as spinocerebellar atrophy (SCA)) and 11 cases of early onset cerebellar ataxia (4 Friedreich's ataxia (FA) and 7 unclassifiable in Friedreich's ataxia (NFA)). All subjects with FA and SCA had delayed central motor conduction times, more accentuated in corticospinal tracts directed to lumbar motoneurons. A similar but less marked slowing was observed in about half of the subjects with OPCA and NFA. In the last two groups the anomalies are more frequent in hereditary than in sporadic forms
[Cortical neuronal immaturity with agenesis of the major interhemispherical commissures and hypoplasia of the optico-pyramidal tracts in 3 children of the same family]
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