Results 81 to 90 of about 4,843,940 (181)
Journal of Veterinary Internal Medicine, Volume 39, Issue 6, November/December 2025.ABSTRACT Gliomatosis cerebri (GC) represents an antemortem diagnostic challenge in the absence of histopathology. Proton magnetic resonance spectroscopy (1H‐MRS) features of the disease in humans include elevated myo‐inositol (mI)‐to‐creatine and decreased N‐acetyl‐aspartate (NAA)‐to‐creatine ratios.
Péter Sebestyén +6 more
wiley +1 more source
Neurobiology of Disease, 2011 Lafora disease (LD) is the inherited progressive myoclonus epilepsy caused by mutations in either EPM2A gene, encoding the protein phosphatase laforin or the NHLRC1 gene, encoding the ubiquitin ligase malin.
Jaiprakash Sharma +4 more
doaj +1 more source
BMC Evolutionary Biology, 2009 Background Lafora disease (LD) is a fatal autosomal recessive neurodegenerative disease. A hallmark of LD is cytoplasmic accumulation of insoluble glucans, called Lafora bodies (LBs). Mutations in the gene encoding the phosphatase laforin account for ~50%
Pace Rachel M, Gentry Matthew S
doaj +1 more source
Longitudinal EEG Studies in a Kindred with Lafora Disease [PDF]
, 1991 We reviewed 18 EEG studies in four members of a family with the Lafora form of progressive myoclonic epilepsy. Each patient was the product of a consan-guinous marriage and presented as a teenager with progressive seizures, myoclonus, dementia, and ...
I. Drury +5 more
core +1 more source
Cell Reports, 2019 Summary: Lafora disease (LD) and adult polyglucosan body disease (APBD) are glycogen storage diseases characterized by a pathogenic buildup of insoluble glycogen. Mechanisms causing glycogen insolubility are poorly understood.
Mitchell A. Sullivan +12 more
doaj +1 more source
Gonzalo Rodríguez Lafora e histopatologia da epidemia de poliomielite (1913)
, 2017 Gonzalo Rodríguez Lafora (1886-1971) is considered to be one of the most notable medical figures of the Generation of 1914. Between 1910 and 1912 worked at "Saint Elizabeth Hospital" in Washington. In 1910 a polio epidemic took place in that city. Lafora
Herrera-Rodríguez, Francisco
core
Presentation of an unusual patient with Lafora disease
, 2012 Lafora disease is a rare, fatal, autosomal recessive progressive myoclonic epilepsy. The condition is characterised by seizures, myoclonus and dementia. In this case report, a patient who presented with generalised tonic-clonic seizures at the age of 30 ...
Naci Karaağac +11 more
core +1 more source
Lafora Disease as a Cause of Epilepsy in Dogs
, 2013 Lafora disease is an autosomal recessive neurodegenerative disease described first by Lafora and Glück in 1911. The typical symptom of Lafora disease is the accumulation of intracellular polyglucosan bodies, among others in the nervous tissue, more ...
Yasin, Inam Rakel
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Three Patients With Lafora Disease: Different Clinical Presentations and a Novel Mutation
, 2015 Lafora disease is a rare, fatal, autosomal recessive hereditary disease characterized by epilepsy, myoclonus and progressive neurological deterioration. Diagnosis is made by polyglucosan inclusion bodies (Lafora bodies) shown in skin biopsy.
Kumandas, Sefer +9 more
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Lafora body disease: Histopathological study of a case
, 1994 Histological findings in a case with progressive myoclonic epilepsy are studied. Lafora bodies were absent in muscle, liver and skin biopsies. The diagnosis was established by brain biopsy characterized by Lafora bodies.
Ozeren A. +6 more
core +1 more source