Results 101 to 110 of about 4,843,940 (181)

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

Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease

The EMBO Journal
Polyglucosans are glycogen molecules with overlong chains, which are hyperphosphorylated in the neurodegenerative Lafora disease (LD). Brain polyglucosan bodies (PBs) cause fatal neurodegenerative diseases including Lafora disease and adult polyglucosan ...
Silvia Nitschke, Alina P Montalbano, Megan E Whiting, Brandon H Smith, Neije Mukherjee-Roy, Charlotte R Marchioni, Mitchell A Sullivan, Xiaochu Zhao, Peixiang Wang, Howard Mount, Mayank Verma, Berge A Minassian, Felix Nitschke   +12 more
doaj   +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  

Retinal Phenotyping of a Murine Model of Lafora Disease. [PDF]

Genes (Basel), 2023
Vincent A, Ahmed K, Hussein R, Berberovic Z, Tumber A, Zhao X, Minassian BA.   +6 more
europepmc   +1 more source

MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease. [PDF]

Mol Genet Genomic Med, 2023
Sun Y, Zhou Z, Wang Q, Yan J, Zhang Z, Cui T.   +5 more
europepmc   +1 more source

Early Psychiatric Manifestations of Lafora Disease: A Case Report. [PDF]

Cureus
Kaddaf A, Satte A, Bourazza A, Kadiri M.
europepmc   +1 more source

SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora Disease. [PDF]

Genes (Basel)
Allegri L, Baldan F, Mio C, Imperatore V, Costa C, Prontera P, Bisulli F, Muccioli L, Damante G.   +8 more
europepmc   +1 more source

Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model. [PDF]

Neurotherapeutics, 2023
Donohue KJ, Fitzsimmons B, Bruntz RC, Markussen KH, Young LEA, Clarke HA, Coburn PT, Griffith LE, Sanders W, Klier J, Burke SN, Maurer AP, Minassian BA, Sun RC, Kordasiewisz HB, Gentry MS.   +15 more
europepmc   +1 more source

Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data. [PDF]

Orphanet J Rare Dis, 2023
Pondrelli F, Minardi R, Muccioli L, Zenesini C, Vignatelli L, Licchetta L, Mostacci B, Tinuper P, Vander Kooi CW, Gentry MS, Bisulli F.   +10 more
europepmc   +1 more source

When gene replacement becomes a double-edged sword: Guardrails for precision neurotherapeutics in Lafora disease. [PDF]

Neurotherapeutics
Riva A, Striano P.
europepmc   +1 more source