Results 91 to 100 of about 4,843,940 (181)
Early detection of skin and muscular involvement in Lafora disease
, 1991 Two siblings with Lafora disease (LD) are described: one with epilepsy, myoclonus, EEG abnormalities, severe dementia and many Lafora bodies (LBs) in muscle and skin tissue; the other with myoclonus, epilepsy, EEG abnormalities and LBs in muscle and in ...
S. Iannaccone +6 more
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Lafora disease presenting with acute anxiety: a case report [PDF]
Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2016 Psychiatric disorders are seen more frequently in patients with epilepsy than in the general population. Personality changes, psychosis, obsessive-compulsive symptoms and mood or anxiety disorders can occur in association with epilepsy. Anxiety disorders
esra ozdemir demirci
doaj
Lafora and Trétiakoff: the naming of the inclusion bodies discovered by Lewy
Arquivos de Neuro-PsiquiatriaFritz Heinrich Jakob Lewy described, for the first time, in 1912, novel peculiar inclusions in neurons of certain brain nuclei in patients with Paralysis agitans, and compared his finding to the amyloid bodies described by Lafora one year before. Gonzalo
Eliasz Engelhardt
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Lafora disease presented with juvenile myoclonic epilepsy clinical features
, 2009 Lafora Hastalığı Progressif Myoklonik Epilepsi olgularının %10 kadarını oluşturmaktadır. Sıklıkla 10-18 yaş arası ortaya çıkan ve otozomal resessif olarak kalıtılan bu hastalık, her iki cinside eşit olarak etkilemektedir.
G. Kandiloğlu +4 more
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Functional characterisation of a predicted chloroplastic plant protein phosphatase [PDF]
, 2009 The phosphatase AtPTPKISI is involved in the control of starch metabolism in Arabidopsis thaliana leaves at night. The SEX4 (Starch Excess 4) mutants, lacking this predicted phosphatase, have strongly reduced rates of starch metabolism.
Seymour, Michael David John
core
Lafora disease due to EPM2B mutations - A clinical and genetic study
, 2005 Objective: To study EPM2B gene mutations and genotype-phenotype correlations in patients with Lafora disease. Methods: The authors performed a clinical and mutational analysis of 25 patients, from 23 families, diagnosed with Lafora disease who had not ...
de Cordoba, SR +7 more
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Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient
Stem Cell ResearchAn induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 24-year-old male patient affected by Lafora disease.
Gabriele Trentini +12 more
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