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Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three Brazilian patients.
A novel leukoencephalopathy was recently identified based on magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy ((1)H-MRS) findings. Leukoencephalopathy with brainstem andExpand
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Hereditary motor and sensory neuropathy with congenital glaucoma. Report on a family.
We report three siblings of a family with hereditary motor and sensory polyneuropathy (HMSN) and buphthalmos. Electrophysiological studies showed a demyelinating neuropathy and pathological findingsExpand
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Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach.
The limb-girdle muscle dystrophy (LGMD) represents a heterogeneous group of muscular diseases with dominant and recessive inheritance, individualized by gene mutation. A group of 56 patients, 32Expand
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HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH CONGENITAL GLAUCOMA
We report three siblings of a family with hereditary motor and sensory polyneuropathy (HMSN) and buphthalmos. Electrophysiological studies showed a demyelinating neuropathy and pathological findingsExpand
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Acquired slow‐channel syndrome
We report the case of a 37‐year‐old man with clinical and electrophysiological features of hereditary slow‐channel syndrome (SCS) and antibodies against acetylcholine receptors (AChR‐Abs). HeExpand
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[Isaacs' syndrome. Report of three cases].
We report two females, and one male with Isaacs' syndrome. The patients presented with clinical myokymia activity, muscle cramps, delayed relaxation, and muscle hypertrophy and increased sweating.Expand
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