Results 171 to 178 of about 1,359 (178)

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