Results 111 to 120 of about 146 (120)

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

Human Mutation, 2010
Thomas Braulke, 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  

Spectrum ofCLN6mutations in variant late infantile neuronal ceroid lipofuscinosis

Human Mutation, 2003
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

Defective Endoplasmic Reticulum-resident Membrane Protein CLN6 Affects Lysosomal Degradation of Endocytosed Arylsulfatase A

Journal of Biological Chemistry, 2004
Thomas Braulke, Alfried Kohlschütter, Stephan Storch   +2 more
exaly  

Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile.

Human genetics, 2008
I Adriana, Cismondi, Romina, Kohan, Addy, Ghio, Ana M Oller, Ramirez, Inés Noher, Halac   +4 more
openaire   +2 more sources

Wczesnodziecięca neuronalna ceroidolipofuscynoza – „wariant” typ CLN6

2018
openaire  

Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6

Animal Genetics
Kim K L Bellamy
exaly