Results 81 to 90 of about 1,071 (153)

Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report. [PDF]

World J Clin Cases, 2023
Wang XQ, Chen CB, Zhao WJ, Fu GB, Zhai Y.   +4 more
europepmc   +1 more source

Генетично верифициран случай на невронална цероидлипофусциноза с нова мутация в CLN6 гена

Българска неврология, 2019
Невроналните цероидни липофусцинози, носещи сборно наименование Болест на Batten (NCLs) представляват хетерогенна група често срещани наследствени невродегенеративни заболявания с начало в различни периоди на детската възраст и по-рядко у възрастни.
Maya Koleva, V. Bojinova, N. Ivanova, K. Mihova, R. Kuneva, I. Tournev   +5 more
doaj  

Progressive MRI brain volume changes in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinosis. [PDF]

Brain Commun, 2023
Murray SJ, Almuqbel MM, Felton SA, Palmer NJ, Myall DJ, Shoorangiz R, Ella A, Keller M, Palmer DN, Melzer TR, Mitchell NL.   +10 more
europepmc   +1 more source

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. [PDF]

Int J Mol Sci, 2023
Martínez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marín C, Lozano MA, Gorría-Redondo N, Lupo V, Martí-Carrera I, Miranda C, Vázquez-López M, García-Pérez A, Marco-Hernández AV, Tomás-Vila M, Aguilera-Albesa S, Espinós C.   +14 more
europepmc   +1 more source

CLN6’s luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses

CLN6’s luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses
CLN6 (Ceroid Lipofuscinosis, Neuronal, 6) is a 311-amino acid protein spanning the endoplasmic reticulum membrane. Mutations in CLN6 are linked to CLN6 disease, a hereditary neurodegenerative disorder categorized into the neuronal ceroid lipofuscinoses.
openaire  

Strategies to treat neurodegeneration in neuronal ceroid lipofuscinosis: a view onto the retina. [PDF]

Neural Regen Res, 2023
Bartsch U.
europepmc   +1 more source

Corrigendum to A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. [PDF]

J Clin Invest
Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, Pal R, Roman D, Collette JR, Booth C, Chang KT, Sifers RN, Jung SY, Weimer JM, Chen R, Schekman RW, Sardiello M.   +15 more
europepmc   +1 more source

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients. [PDF]

Neurogenetics, 2023
Refeat MM, Naggar WE, Saied MME, Kilany A.   +3 more
europepmc   +1 more source

PPARα and RXRα in the regulation of neuronal ceroid lipofuscinosis genes: implications for Batten disease therapy. [PDF]

NeuroImmune Pharm Ther
Chandra S, Pahan K.
europepmc   +1 more source

Structural adaptability and hydrogen bonding in a dissymmetric pyrimidine thioether ligand. [PDF]

Acta Crystallogr C Struct Chem
Anoliefo K, Brown K, Hiscock LK, Boyle PD, Dawe LN.   +4 more
europepmc   +1 more source