Read more about the article Amyloid myopathy: evidence for mechanical injury to the sarcolemma.
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Amyloid myopathy: evidence for mechanical injury to the sarcolemma.

Abstract Myopathy is a rare clinical manifestation in primary systemic amyloidosis. The clinical phenotype and muscle histology are well described but the pathophysiological mechanisms remain poorly understood. We report a…

Continue ReadingAmyloid myopathy: evidence for mechanical injury to the sarcolemma.
Read more about the article A family with the branchio-oto-renal syndrome: clinical and genetic correlations.
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A family with the branchio-oto-renal syndrome: clinical and genetic correlations.

Abstract The branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by hearing loss of early onset, preauricular pits, branchial clefts, and early progressive chronic renal failure in up to…

Continue ReadingA family with the branchio-oto-renal syndrome: clinical and genetic correlations.
Read more about the article Compressive lumbar myelopathy presenting as segmental motor neuron disease.
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Compressive lumbar myelopathy presenting as segmental motor neuron disease.

Abstract Four patients presented with slowly progressive, bilateral, asymmetric weakness and muscle atrophy in the lower extremities, accompanied by cramps and fasciculations. Sensory symptoms were insignificant. There was no bladder…

Continue ReadingCompressive lumbar myelopathy presenting as segmental motor neuron disease.
Read more about the article Neurogenic vestibular evoked potentials using a tone pip auditory stimulus.
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Neurogenic vestibular evoked potentials using a tone pip auditory stimulus.

Abstract To obtain neurogenic vestibular evoked potentials (NVESTEPs) with surface scalp recording using a tone pip auditory stimulus.Fourteen neurologically normal volunteers (Age range 26-45 years, 10 females and 4 males),…

Continue ReadingNeurogenic vestibular evoked potentials using a tone pip auditory stimulus.
Read more about the article Click evoked neurogenic vestibular potentials (NVESTEPs): a method of assessing the function of the vestibular system.
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Click evoked neurogenic vestibular potentials (NVESTEPs): a method of assessing the function of the vestibular system.

Abstract To obtain neurogenic vestibular evoked potentials (NVESTEPs) with surface scalp recording using high intensity auditory clicks. The same stimulus is used in myogenic vestibular evoked potentials which has been…

Continue ReadingClick evoked neurogenic vestibular potentials (NVESTEPs): a method of assessing the function of the vestibular system.
Read more about the article Knitting artifact.
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Knitting artifact.

Abstract

Continue ReadingKnitting artifact.
Read more about the article Photosensitivity during the hypersomnic phase in a patient with Kleine-Levin syndrome.
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Photosensitivity during the hypersomnic phase in a patient with Kleine-Levin syndrome.

Abstract The case of an adolescent with Kleine-Levin syndrome is presented who exhibited a consistent and predictable photoparoxysmal self-limited response to intermittent photic stimulation during all relapses of his hypersomnic…

Continue ReadingPhotosensitivity during the hypersomnic phase in a patient with Kleine-Levin syndrome.
Read more about the article Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene.
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Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene.

Abstract Complete androgen insensitivity syndrome (CAIS) is characterized by a completely female phenotype in a 46,XY individual and is caused by mutations in the androgen receptor (AR) gene. A 5…

Continue ReadingComplete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene.
Read more about the article 5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect.
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5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect.

Abstract 5alpha-Steroid reductase deficiency (5alphaSRD) is an autosomal recessive enzymatic deficiency. Mutations in the 5alpha-steroid reductase type 2 gene (SRD5A2) result in male pseudohermaphroditism caused by decreased dihydrotestosterone (DHT) synthesis--a…

Continue Reading5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect.
Read more about the article Neurogenic vestibular evoked potentials in three cases of vestibular system dysfunction.
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Neurogenic vestibular evoked potentials in three cases of vestibular system dysfunction.

Abstract To demonstrate that neurogenic vestibular evoked potentials (NVsEP) may be specific to the vestibular system using three cases of vestibular system dysfunction and normal auditory function, Neurogenic vestibular evoked…

Continue ReadingNeurogenic vestibular evoked potentials in three cases of vestibular system dysfunction.