Cargando…

Role of genetic modifiers in Lafora progressive myoclonus epilepsy-a neurodegenerative disorder with defects in carbohydrate metabolism

Detalles Bibliográficos
Autores principales:	Singh, Shweta, Ganesh, Subramaniam
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374243/ http://dx.doi.org/10.1186/1753-6561-6-S3-P43

Ejemplares similares

Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy
por: Mitra, Sharmistha, et al.
Publicado: (2023)

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
por: Couarch, Philippe, et al.
Publicado: (2011)

Identification of proteins potentially involved in the formation of Lafora bodies, a hallmark of Lafora disease
por: Schokraie, Elham, et al.
Publicado: (2013)

Genetics of Lafora progressive myoclonic epilepsy: current perspectives
por: Kecmanović, Miljana, et al.
Publicado: (2016)

PTG Depletion Removes Lafora Bodies and Rescues the Fatal Epilepsy of Lafora Disease
por: Turnbull, Julie, et al.
Publicado: (2011)

Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease)()
por: Schorlemmer, Kathrin, et al.
Publicado: (2013)

Activation of serum/glucocorticoid-induced kinase 1 (SGK1) underlies increased glycogen levels, mTOR activation, and autophagy defects in Lafora disease
por: Singh, Pankaj Kumar, et al.
Publicado: (2013)

Progressive Myoclonic Epilepsy Due to Lafora Body Disease with a Novel Mutation
por: Israni, Anil V., et al.
Publicado: (2018)

Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
por: Hentrich, Lea, et al.
Publicado: (2023)

Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy
por: Martin, Sarah, et al.
Publicado: (2019)

Progressive myoclonus epilepsy associated with SACS gene mutations
por: Nascimento, Fábio A., et al.
Publicado: (2016)

Juvenile Huntington’s disease masquerading as progressive myoclonus epilepsy
por: Thakor, Bina, et al.
Publicado: (2021)

Perampanel improved intractable myoclonus in two patients with myoclonus epilepsy
por: Iijima, Mutsumi, et al.
Publicado: (2019)

Ketogenic diet reduces Lafora bodies in murine Lafora disease
por: Israelian, Lori, et al.
Publicado: (2020)

Clinical characteristics and outcome of patients with status myoclonus following out of hospital cardiac arrest
por: Ruknuddeen, MI, et al.
Publicado: (2015)

PA01.76. Single drug therapy in childhood Apasmara (Epilepsy)
por: Musale, Shweta
Publicado: (2012)

Everolimus does not prevent Lafora body formation in murine Lafora disease
por: Mishra, Navin, et al.
Publicado: (2017)

Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities
por: Sanz, Pascual, et al.
Publicado: (2020)

Unmasking of myoclonus by lacosamide in generalized epilepsy
por: Birnbaum, Daniel, et al.
Publicado: (2016)

The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study
por: van Egmond, Martje E., et al.
Publicado: (2017)

Beneficial Effects of Metformin on the Central Nervous System, with a Focus on Epilepsy and Lafora Disease
por: Sanz, Pascual, et al.
Publicado: (2021)

Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy
por: Carpenter, Jenna C., et al.
Publicado: (2021)

Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy
por: Herzog, Rebecca, et al.
Publicado: (2021)

Unusual Course of Lafora Disease
por: Zutt, Rodi, et al.
Publicado: (2016)

Late-onset Juvenile Myoclonic Epilepsy or Frontal Lobe Epilepsy with Myoclonus
por: Zhang, Xin-Yue, et al.
Publicado: (2016)

Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease
por: d'Orsi, Giuseppe, et al.
Publicado: (2023)

Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy
por: Manninen, Otto, et al.
Publicado: (2015)

Case Report: Distinctive EEG Patterns in SCARB-2 Related Progressive Myoclonus Epilepsy
por: Hotait, Mostafa, et al.
Publicado: (2020)

A Novel Mutation in KCDT7 Gene in an Indian Girl With Progressive Myoclonus Epilepsy
por: Dudipala, Sai Chandar, et al.
Publicado: (2021)

Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases
por: Canafoglia, Laura, et al.
Publicado: (2021)

Nutrient timing with low carbohydrate diets
por: Jacobs, Pat
Publicado: (2011)

Lafora Disease Masquerading as Hepatic Dysfunction
por: Inayat, Faisal, et al.
Publicado: (2018)

Lafora disease in miniature Wirehaired Dachshunds
por: Swain, Lindsay, et al.
Publicado: (2017)

Retinal alterations in patients with Lafora disease
por: Heitkotter, Heather, et al.
Publicado: (2021)

Lafora disease: a case report
por: Zeka, Naim, et al.
Publicado: (2022)

Using Caenorhabditis elegans to fight human neurodegenerative diseases
por: Chen, Xi, et al.
Publicado: (2013)

P05-11. Yeast mannan genetics controls the molecular specificity of anti-carbohydrate antibodies cross-reactive to the HIV envelope
por: Dunlop, DC, et al.
Publicado: (2009)

Brain inflammation is accompanied by peripheral inflammation in Cstb(−/−) mice, a model for progressive myoclonus epilepsy
por: Okuneva, Olesya, et al.
Publicado: (2016)

Altered Expression of Peroxiredoxins in Mouse Model of Progressive Myoclonus Epilepsy upon LPS-Induced Neuroinflammation
por: Trstenjak Prebanda, Mojca, et al.
Publicado: (2021)

Comprehensive genetic analyses of primary adrenal failure without enzymatic defects
por: Amano, Naoko, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_fka72hcpoca9l9a91o7697s06j