Results 61 to 70 of about 583 (101)

Identification of a pathogenic NHLRC1 variant in a consanguineous Pakistani family affected with severe and rapidly progressive Lafora disease. [PDF]

Acta Epileptol
Aslam Z, Zubaida B, Khan R, Badshah M, Naeem M.   +4 more
europepmc   +1 more source

Glycogenin-1 deficiency: a case report and review of the literature. [PDF]

Front Genet
Molitierno N, Velardo D, Salvucci G, Abati E, Tumminello G, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Comi GP, Corti S, Ronchi D.   +12 more
europepmc   +1 more source

Beneficial Effect of Fingolimod in a Lafora Disease Mouse Model by Preventing Reactive Astrogliosis-Derived Neuroinflammation and Brain Infiltration of T-lymphocytes. [PDF]

Mol Neurobiol
Rubio T, Campos-Rodríguez Á, Sanz P.
europepmc   +1 more source

Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations. [PDF]

J Neurol Sci, 2021
Riva A, Orsini A, Scala M, Taramasso V, Canafoglia L, d'Orsi G, Di Claudio MT, Avolio C, D'Aniello A, Elia M, Franceschetti S, Di Gennaro G, Bisulli F, Tinuper P, Tappatà M, Romeo A, Freri E, Marini C, Costa C, Sofia V, Ferlazzo E, Magaudda A, Veggiotti P, Gennaro E, Pistorio A, Minetti C, Bianchi A, Striano S, Michelucci R, Zara F, Minassian BA, Striano P, Italian League Against Epilepsy Genetic Commission.   +32 more
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

Mapping Disorders with Neurological Features Through Mitochondrial Impairment Pathways: Insights from Genetic Evidence. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Dermitzakis I, Gargani S, Manthou ME, Theotokis P.   +6 more
europepmc   +1 more source

Focused ultrasound widely broadens AAV-delivered Cas9 distribution and activity. [PDF]

Gene Ther
Gumusgoz E, Kasiri S, Youssef I, Verma M, Chopra R, Villarreal Acha D, Wu J, Marriam U, Alao E, Chen X, Guisso DR, Gray SJ, Shah BR, Minassian BA.   +13 more
europepmc   +1 more source

Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease. [PDF]

Front Neurosci
Fang Z, Sun X, Hu Y, Xie C, Chen X, Jiang Y.   +5 more
europepmc   +1 more source

Spontaneous late-onset myoclonic epilepsy in cats: 15 cases (2015-2023). [PDF]

J Feline Med Surg
Liatis T, Karpozilou A, De Stefani A.
europepmc   +1 more source

Effect of intracerebroventricular administration of alglucosidase alfa in two mouse models of Lafora disease: Relevance for clinical practice. [PDF]

Epilepsy Res
Zafra-Puerta L, Colpaert M, Iglesias-Cabeza N, Burgos DF, Sánchez-Martín G, Gentry MS, Sánchez MP, Serratosa JM.   +7 more
europepmc   +1 more source