Results 151 to 160 of about 1,886 (182)
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Lafora disease: Diagnosis by liver biopsy
Annals of Neurology, 1980AbstractWe have studied four patients who had a clinical course compatible with Lafora disease. The diagnosis was confirmed in one by the presence of Lafora bodies in central nervous system neurons at autopsy and was supported in another by findings in the cerebral biopsy of a sibling.
R N, Nishimura +5 more
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Archives of Neurology, 1986
A patient had the clinical and neuropathologic signs of Lafora's disease. Skin biopsy specimens from the midcalf area confirmed earlier findings by showing numerous periodic acid-Schiff-positive inclusion bodies in eccrine sweat gland duct cells. In our patient, however, inclusion bodies were more abundantly present in the apocrine sweat gland duct ...
B L, Busard +5 more
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A patient had the clinical and neuropathologic signs of Lafora's disease. Skin biopsy specimens from the midcalf area confirmed earlier findings by showing numerous periodic acid-Schiff-positive inclusion bodies in eccrine sweat gland duct cells. In our patient, however, inclusion bodies were more abundantly present in the apocrine sweat gland duct ...
B L, Busard +5 more
openaire +2 more sources
Reviews in neurological diseases, 2007
Lafora disease (LD) is an autosomal recessive disorder characterized by seizures and progressive neurologic deterioration, and is usually fatal within 10 years of onset. LD is a member of the family of progressive myoclonic epilepsies, which are a heterogeneous group of disorders characterized by myoclonic epilepsy, developmental regression, and ...
Deepak, Madhavan, Ruben I, Kuzniecky
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Lafora disease (LD) is an autosomal recessive disorder characterized by seizures and progressive neurologic deterioration, and is usually fatal within 10 years of onset. LD is a member of the family of progressive myoclonic epilepsies, which are a heterogeneous group of disorders characterized by myoclonic epilepsy, developmental regression, and ...
Deepak, Madhavan, Ruben I, Kuzniecky
openaire +1 more source
Diagnosis of Lafora disease by skin biopsy
Journal of Cutaneous Pathology, 1988The Lafora type of progressive myoclonus epilepsy is a rare and fatal familial disease characterized by seizures, myoclonus, and dementia. This diagnosis was confirmed in 2 patients by demonstrating the presence of intracytoplasmic polygkicosan bodies, or Lafora bodies, in the peripheral portion of the eccrinc sweat gland duct.
J W, White, M R, Gomez
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Early Treatment with Metformin Improves Neurological Outcomes in Lafora Disease
Neurotherapeutics, 2022Nerea Iglesias-Cabeza +2 more
exaly
Pathologic Confirmation of Lafora Disease
Pediatric Neurology, 2020Hajar, Rhouda +3 more
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