Results 91 to 100 of about 1,886 (182)

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, A. Gökçay, Ayşe Güler, H. Karasoy, Ö. E. Özbay   +4 more
core  

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  

Issue Information

Epilepsia Open, Volume 10, Issue 6, Page 1743-1750, December 2025.
wiley   +1 more source

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., Sarica Y., Tiryaki G., Tuncer I., Tunali N., Gonlusen G., Demirkiran M.   +6 more
core  

Lafora hastalığı: ilerleyici bir miyoklonik epilepsi

, 2011
Lafora disease is a rare autosomal recessive progressive myoclonic epilepsy characterized by seizures, myoclonus and progressive cognitive decline. At the beginning of the symptoms the disease may be misdiagnosed as benign epileptic syndromes.
Demirkesen, Cuyan, Unver, Olcay, Olcay Ünver, Cüyan Demirkesen, Uysal, Serap, Serap Uysal   +5 more
core   +1 more source

From glycogen metabolism to Lafora disease [PDF]

, 2016
Glycogen synthesis is normally absent in neurons. However, inclusion bodies resembling abnormal glycogen accumulate in several neurological diseases, particularly in progressive myoclonus epilepsy or Lafora disease.
Guinovart, Joan
core  

Lafora disease [PDF]

, 2020
openaire   +3 more sources

Inhibiting glycogen synthesis prevents lafora disease in a mouse model

, 2013
Lafora disease (LD) is a fatal progressive myoclonus epilepsy characterized neuropathologically by aggregates of abnormally structured glycogen and proteins (Lafora bodies [LBs]), and neurodegeneration.
Weaver, Staci A., Zhao, Xiaochu, Turnbull, Julie, Xiaochu Zhao, Pederson, Bartholomew A., Peter J. Roach, Berge A. Minassian, Jonathan R. Epp, Staci A. Weaver, Ackerley, Cameron A., Paul W. Frankland, Pencea, Nela, Frankland, Paul, Minassian, Berge A., Julie Turnbull, Epp, Jonathan R., Cameron A. Ackerley, Bartholomew A. Pederson, Nela Pencea, Roach, Peter J.   +19 more
core   +1 more source

Identification of proteins potentially involved in the formation of Lafora bodies, a hallmark of Lafora disease

, 2013
Lafora Disease (LD) is a fatal teenage-onset progressive myoclonus epilepsy. It is characterized by the formation of Lafora bodies (LBs), deposits of abnormally branched, insoluble, hyperphosphorylated glycogen-like polymers that are generally believed ...
Schokraie, Elham, Kötting, Oliver, Gentry, Matthew S.   +2 more
core   +1 more source

Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient

Stem Cell Research
An 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, Giulia Cazzanelli, Marina Cardano, Orazio Palumbo, Mario Benvenuto, Pietro Palumbo, Francesca Agriesti, Claudia Piccoli, Luciano Conti, DEFEAT-LD Study Group, Massimo Carella, Graziano Lolli, Giuseppe d’Orsi   +12 more
doaj   +1 more source