Results 111 to 120 of about 5,529 (148)

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence. [PDF]

Front Pediatr, 2021
Serrano M.
europepmc   +1 more source

Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG. [PDF]

Mol Genet Metab Rep, 2021
González-Domínguez CA, Villarroel CE, Rodríguez-Morales M, Manrique-Hernández S, González-Jaimes A, Olvera-Rodriguez F, Beutelspacher K, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Mora-Montes HM, Salinas-Marín R, Alaez-Verson C, Martínez-Duncker I.   +16 more
europepmc   +1 more source

Stress-induced secretory pathway disruption causes atypical metalloproteinase transport in PMM2-CDG. [PDF]

iScience
Wu CL, Wiggins K, Dukes-Rimsky L, Garapati K, Pandey A, Steet R, Flanagan-Steet H.   +6 more
europepmc   +1 more source

Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies. [PDF]

Arch Iran Med
Alagha P, Akhtarkhavari T, Shokouhian E, Ghodratpour F, Arzhangi S, Najmabadi H, Kahrizi K.   +6 more
europepmc   +1 more source

AAV-based gene replacement therapy prevents and halts manifestation of abnormal neurological phenotypes in a novel mouse model of PMM2-CDG. [PDF]

Gene Ther
Zhong ML, Lai K.
europepmc   +1 more source

Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): Evidence for hypoglycosylation-driven channelopathy

Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding CaV2.1 channel).
Martínez Monseny, Antonio Federico, Pérez, Belén, Izquierdo Serra, Mercè, Serrano, Mercedes L., Macaya, Alfons, Pérez Dueñas, Belén, Cancho Candela, Ramón, Carrasco Marina, Ma Llanos, Montero, Raquel, Artuch, Rafael, Cuadras, Daniel, Fernández-Fernández, José Manuel, 1967-, López, Laura, García, Óscar, Edo, Albert, Gutiérrez-Solana, Luis González, Muchart, Jordi, Carrillo García, Julia, Pérez Cerdá, Celia, Ortigoza Escobar, Juan Darío   +19 more
core  

Integrated glycoproteomics reveals site-specific N-glycosylation defects in phosphomannomutase two congenital disorder of glycosylation. [PDF]

J Biol Chem
Nilsson J, Mirgorodskaya E, Wallem CS, Noborn F, Eklund EA, Larson G, Blomqvist M.   +6 more
europepmc   +1 more source

Glycosylation disorders in pediatric epilepsy: pathophysiology, imaging and precision therapy. [PDF]

Front Neurol
Fan L, Shen Y, Wang J, Gan J.
europepmc   +1 more source