Results 71 to 80 of about 474 (120)

Phenotypic variant of CLN3 mutation. [PDF]

Am J Ophthalmol Case Rep, 2022
Honasoge A, Smith BT.
europepmc   +1 more source

Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case report. [PDF]

Clin Park Relat Disord
Hu Y, Sun H, Jiang Q, Wang J, Zhang S, Lin X.   +5 more
europepmc   +1 more source

Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease. [PDF]

Int J Mol Sci, 2020
Shematorova EK, Shpakovski GV.
europepmc   +1 more source

A recessive CLN3 variant is responsible for delayed-onset retinal degeneration in Hereford cattle. [PDF]

J Vet Diagn Invest
Reith RR, Batt MC, Fuller AM, Meekins JM, Diehl KA, Zhou Y, Bedwell PS, Ward JA, Sanders SK, Petersen JL, Steffen DJ.   +10 more
europepmc   +1 more source

Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium. [PDF]

Biochim Biophys Acta Mol Basis Dis, 2020
Zhong Y, Mohan K, Liu J, Al-Attar A, Lin P, Flight RM, Sun Q, Warmoes MO, Deshpande RR, Liu H, Jung KS, Mitov MI, Lin N, Butterfield DA, Lu S, Liu J, Moseley HNB, Fan TWM, Kleinman ME, Wang QJ.   +19 more
europepmc   +1 more source

Assessing the impact of cervical cancer education in two high schools in Ghana. [PDF]

BMC Cancer
Dedey F, Nsaful J, Nartey E, Labi J, Adu-Aryee NA, Kuti C, Clegg-Lamptey JN.   +6 more
europepmc   +1 more source

Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3. [PDF]

J Biol Chem, 2020
Seifert C, Storch S, Bähring R.
europepmc   +1 more source

Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.

JAMA Ophthalmol, 2021
Smirnov VM, Nassisi M, Solis Hernandez C, Méjécase C, El Shamieh S, Condroyer C, Antonio A, Meunier I, Andrieu C, Defoort-Dhellemmes S, Mohand-Said S, Sahel JA, Audo I, Zeitz C.   +13 more
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

The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis.

Neurobiol Dis, 2023
Bernardi S, Gemignani F, Marchese M.
europepmc   +1 more source