Results 171 to 177 of about 1,285 (177)

Spectrum ofCLN6mutations in variant late infantile neuronal ceroid lipofuscinosis

Human Mutation, 2003
R M Gardiner, Ruth E Williams, Sara E Mole   +2 more
exaly  

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

Human Mutation, 2003
Carla Teixeira, CARLOS Bessa, A Guimarães   +2 more
exaly  

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

Human Mutation, 2010
Sara E Mole, Thomas Braulke
exaly  

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

Brain and Development, 2016
Takehiko Inui, Yukimune Okubo, Yusuke Takezawa   +2 more
exaly  

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

Journal of Biological Chemistry, 2004
Stephan Storch, A Kohlschütter, David N Palmer   +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