Results 51 to 60 of about 944 (117)

Proteomic profiling of polyglucosan bodies associated with glycogenin‐1 deficiency in skeletal muscle

Neuropathology and Applied Neurobiology, Volume 50, Issue 3, June 2024.
Polyglucosan storage disorders represent an emerging field within neurodegenerative and neuromuscular conditions. We combined molecular genetic analyses, quantitative mass spectrometry of laser micro‐dissected polyglucosan bodies, immunohistochemistry and western blot, and show that the absence of glycogenin‐1 (GYG1), a protein important for glycogen ...
Kittichate Visuttijai, Carola Hedberg‐Oldfors, Daniel J. Costello, Niamh Bermingham, Anders Oldfors   +4 more
wiley   +1 more source

Myoclonus: Differential diagnosis and current management

Epilepsia Open, Volume 9, Issue 2, Page 486-500, April 2024.
Abstract Myoclonus classically presents as a brief (10–50 ms duration), non‐rhythmic jerk movement. The etiology could vary considerably ranging from self‐limited to chronic or even progressive disorders, the latter falling into encephalopathic pictures that need a prompt diagnosis. Beyond the etiological classification, others evaluate myoclonus' body
Antonella Riva, Gianluca D'Onofrio, Edoardo Ferlazzo, Angelo Pascarella, Elena Pasini, Silvana Franceschetti, Ferruccio Panzica, Laura Canafoglia, Aglaia Vignoli, Antonietta Coppola, Valeria Badioni, Francesca Beccaria, Angelo Labate, Antonio Gambardella, Antonino Romeo, Giuseppe Capovilla, Roberto Michelucci, Pasquale Striano, Vincenzo Belcastro   +18 more
wiley   +1 more source

Persistent accumulation of unrepaired DNA damage in rat cortical neurons: nuclear organization and ChIP-seq analysis of damaged DNA

Acta Neuropathologica Communications, 2018
Neurons are highly vulnerable to DNA damage induced by genotoxic agents such as topoisomerase activity, oxidative stress, ionizing radiation (IR) and chemotherapeutic drugs.
Jorge Mata-Garrido, Olga Tapia, Iñigo Casafont, Maria T. Berciano, Ana Cuadrado, Miguel Lafarga   +5 more
doaj   +1 more source

Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models

Neurobiology of Disease, 2017
Lafora disease (LD) is an autosomal recessive form of a fatal disorder characterized by the myoclonus epilepsy, ataxia, psychosis, dementia, and dysarthria.
Mamta Upadhyay, Saloni Agarwal, Pratibha Bhadauriya, Subramaniam Ganesh   +3 more
doaj   +1 more source

Embracing the future: Neonatal screening for epileptic syndromes

Epilepsia, Volume 66, Issue 6, Page 1843-1853, June 2025.
Rima Nabbout, Mathieu Kuchenbuch
wiley   +1 more source

Doença de Lafora em cão sem raça definida

Pubvet
A doença de Lafora é uma encefalopatia neurodegenerativa hereditária rara, caracterizada pelo acúmulo intracitoplasmático de poliglucosanos anormais decorrentes de alterações no metabolismo do glicogênio, associadas a mutações nos genes EPM2A (laforina ...
Jenifer Caroline Borges Lima, Ana Paula Frederico Loureiro Bracarense   +1 more
doaj   +1 more source

Genetics of Lafora progressive myoclonic epilepsy: current perspectives

The Application of Clinical Genetics, 2016
Miljana Kecmanović,1 Milica Keckarević-Marković,1 Dušan Keckarević,1 Galina Stevanović,2 Nebojša Jović,2 Stanka Romac,1,† 1Faculty of Biology, Center for Human Molecular Genetics, 2Clinic of Neurology and Psychiatry for Children and ...
Kecmanović M, Keckarević-Marković M, Keckarević D, Stevanović G, Jović N, Romac S   +5 more
doaj  

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.

PLoS Genetics, 2015
Genetic generalised epilepsy (GGE) is the most common form of genetic epilepsy, accounting for 20% of all epilepsies. Genomic copy number variations (CNVs) constitute important genetic risk factors of common GGE syndromes.
Dennis Lal, Ann-Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G de Kovel, Dorothée Kasteleijn-Nolst Trenité, Anja C M Sonsma, Bobby P Koeleman, Dick Lindhout, Yvonne G Weber, Holger Lerche, Claudia Kapser, Christoph J Schankin, Wolfram S Kunz, Rainer Surges, Christian E Elger, Verena Gaus, Bettina Schmitz, Ingo Helbig, Hiltrud Muhle, Ulrich Stephani, Karl M Klein, Felix Rosenow, Bernd A Neubauer, Eva M Reinthaler, Fritz Zimprich, Martha Feucht, Rikke S Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, Wolfgang Lieb, Andre Franke, Konstantin Strauch, Christian Gieger, Claudia Schurmann, Ulf Schminke, Peter Nürnberg, EPICURE Consortium, Thomas Sander   +39 more
doaj   +1 more source

VAL-1221 for the treatment of patients with Lafora disease: study protocol for a single-arm, open-label clinical trial

BMJ Open
Introduction Lafora disease (LD) is an ultrarare fatal progressive myoclonic epilepsy, causing drug-resistant epilepsy, myoclonus and psychomotor deterioration. LD is caused by mutations in EPM2A or NHLRC1, which lead to the accumulation of polyglucosans
, Paolo Prontera, Orazio Palumbo, Massimo Carella, Corrado Zenesini, Giuseppe Damante, Laura Licchetta, Francesca Bisulli, Lorenzo Muccioli, Luca Vignatelli, Roberto Michelucci, Giuseppe D’Orsi, Elena Pasini, Maria Tappatà, Cinzia Costa, Raffaele Lodi, Serena Mazzone, Dustin Armstrong, Cosimo Altomare, Lidia Di Vito, Nicola Gambacorta, Paola Imbrici, Valentina Imperatore, Antonella Liantonio, Paola Mantuano   +24 more
doaj   +1 more source

SGK1 (glucose transport), dishevelled2 (wnt signaling), LC3/p62 (autophagy) and p53 (apoptosis) proteins are unaltered in Lafora disease

All Results Journals: Biol, 2016
Glycogen forms through the concerted actions of glycogen synthase (GS) which elongates glycogen strands, and glycogen branching enzyme (GBE).  Lafora disease (LD) is a fatal neurodegenerative epilepsy that results from neuronal accumulation of ...
Peixiang Wang, Lori Israelian, Yunlin Xue, Siyuan Song, Liliana Attisano, Berge Minassian   +5 more
doaj