Results 121 to 130 of about 3,421 (195)

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations [PDF]

, 2010
Helena Poupětová, Jana Ledvinová, Linda Berná, Lenka Dvořáková, Viktor Kožich, Milan Elleder   +5 more
core   +1 more source

Gut-Brain Interactions in Neuronal Ceroid Lipofuscinoses: A Systematic Review Beyond the Brain in Paediatric Dementias. [PDF]

Int J Mol Sci
Della Vecchia S, Marchese M, Simonati A, Santorelli FM.   +3 more
europepmc   +1 more source

Correction to: Molecular networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum. [PDF]

J Biomed Sci, 2020
Huber RJ.
europepmc   +1 more source

CLN5 : from mutation to defective protein and clinical phenotype [PDF]

, 2004
Holmberg, Ville
core  

Pediatric onset neuronal ceroid lipofuscinoses: Unraveling clinical and genetic specifications. [PDF]

Pak J Med Sci
Ahdi SG, Alvi JR, Ashfaq A, Sultan T.
europepmc   +1 more source

Glucose metabolism impairment as a hallmark of progressive myoclonus epilepsies: a focus on neuronal ceroid lipofuscinoses. [PDF]

Front Cell Neurosci
Santucci L, Bernardi S, Vivarelli R, Santorelli FM, Marchese M.   +4 more
europepmc   +1 more source

Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia. [PDF]

Neurosciences (Riyadh), 2020
Alkhars FZ, Bo Ali AY, Almohanna MA, Almajhad NA.   +3 more
europepmc   +1 more source

Genetic Reasons for Phenotypic Diversity in Neuronal Ceroid Lipofuscinoses and High-Resolution Imaging as a Marker of Retinal Disease. [PDF]

Ophthalmol Sci
Huey J, Gupta P, Wendel B, Liu T, Bharadwaj P, Schwartz H, Kelly JP, Chang I, Chao JR, Sabesan R, Nagiel A, Mustafi D.   +11 more
europepmc   +1 more source

Molecular networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum. [PDF]

J Biomed Sci, 2020
Huber RJ.
europepmc   +1 more source

Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills. [PDF]

Orphanet J Rare Dis
Kayani S, BordesEdgar V, Lowden A, Nettesheim ER, Dahshi H, Messahel S, Minassian BA, Greenberg BM.   +7 more
europepmc   +1 more source