Results 141 to 150 of about 1,071 (153)

Novel insight into the compound heterozygosity-driven CLN6 disease pathomechanism

Molecular Genetics and Metabolism, 2022
Yuki Shiro, Tetsuo Yamazaki
openaire   +1 more source

CLN6

2011
J. Alroy, T. Braulke, I.A. Cismondi, J.D. Cooper, D. Creegan, M. Elleder, C. Kitzmüller, R. Kohan, A. Kohlschütter, S.E Mole, I. Noher de Halac, R. Pfannl, A. Quitsch, A. Schulz   +13 more
openaire   +1 more source

Implications of graded reductions in CLN6’s anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses

Biochemical and Biophysical Research Communications, 2020
Tetsuo Yamazaki
exaly  

Modeling CLN6 with patient-derived IPS cells

Molecular Genetics and Metabolism, 2017
openaire   +1 more source

Spectrum ofCLN6mutations in variant late infantile neuronal ceroid lipofuscinosis

Human Mutation, 2003
Sara Mole
exaly  

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis

Human Mutation, 2003
Carla Andreia Teixeira, CARLOS Bessa
exaly  

Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6

Human Mutation, 2010
Thomas Braulke, Sara Mole
exaly  

Kufs disease due to mutation ofCLN6: clinical, pathological and molecular genetic features

Brain, 2019
Karen L Oliver, Michael Farrell, Alessandro Simonati   +2 more
exaly  

First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations

Brain and Development, 2016
Naomichi Matsumoto, Yusuke Takezawa, Takehiko Inui   +2 more
exaly  

ADENO-ASSOCIATED VIRUS DELIVERY OF CLN6 POLYNUCLEOTIDE

2020
MEYER KATHRIN, KASPAR BRIAN K
openaire   +2 more sources