Results 81 to 90 of about 1,806 (157)

KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses. [PDF]

Sci Adv, 2022
Wang Y, Cao X, Liu P, Zeng W, Peng R, Shi Q, Feng K, Zhang P, Sun H, Wang C, Wang H.   +10 more
europepmc   +1 more source

Ethical Issues in Care and Treatment of Neuronal Ceroid Lipofuscinoses (NCL)-A Personal View. [PDF]

Front Neurol, 2021
Kohlschütter A.
europepmc   +1 more source

Patient-Derived Induced Pluripotent Stem Cell Models for Phenotypic Screening in the Neuronal Ceroid Lipofuscinoses. [PDF]

Molecules, 2021
Morsy A, Carmona AV, Trippier PC.
europepmc   +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

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

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

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

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