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Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination
Hereditary demyelinating peripheral neuropathies consist of a heterogeneous group of genetic disorders that includes hereditary neuropathy with liability to pressure palsies (HNPP),Expand
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial
Late-onset glycogen storage disease type 2 (GSD2)/Pompe disease is a progressive multi-system disease evoked by a deficiency of lysosomal acid α-glucosidase (GAA) activity. GSD2 is characterized byExpand
Quantitative studies of autonomic function
Dysfunction of the peripheral and central autonomic nervous system is common in many neurological and general medical diseases. The quantitative assessment of sympathetic and parasympathetic functionExpand
Thermal discrimination thresholds: a comparison of different methods
Thermal testing was carried out on 55 healthy subjects in order to establish normal results and reproducibility of warm and cold thresholds. Diurnal variations of thresholds were investigated in aExpand
Cerebrovascular Involvement in Fabry Disease: Current Status of Knowledge
Fabry disease (FD) is a rare and highly debilitating lysosomal storage disorder that results from a total lack of, or deficiency in, the enzyme α-galactosidase A (α-Gal A) because of mutations in theExpand
Methods of measurement of thermal thresholds
Abstract Thermal tests were performed in 117 healthy subjects on the face, wrist and leg; 32 were tested on the legs with different rates of cooling and warning. Additionally 2 groups of diabeticsExpand
Cardiovascular autonomic function in poststroke patients
Background: Autonomic dysregulation is frequent in acute ischemic stroke. Several studies concluded that imbalance between sympathetic and parasympathetic cardiovascular function predisposes toExpand
Hyperintense and hypointense MRI signals of the precentral gyrus and corticospinal tract in ALS: A follow-up examination including FLAIR images
In amyotrophic lateral sclerosis (ALS) patients, hyperintense signals at the subcortical precentral gyrus in brain fluid attenuated inversion recovery (FLAIR) MR images have been found moreExpand
Sex differences and lateral asymmetry in heart rate modulation in patients with temporal lobe epilepsy
This study was designed to study the influence of gender and lateral hemispheric asymmetry on heart rate modulation during temporal lobe seizures. Heart rate was recorded during complex partialExpand
Critical illness polyneuropathy: clinical findings and cell culture assay of neurotoxicity assessed by a prospective study
Abstract Objective: First, to evaluate the role of typical intensive care-related conditions like sepsis, prolonged ventilation, drug effects and metabolic disorders in the pathogenesis of criticalExpand