Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses
R Kohan, IA Cismondi… - Current …, 2011 - ingentaconnect.com
The Neuronal Ceroid Lipofuscinoses (NCLs) are lysosomal storage diseases (LSDs)
affecting the central nervous system (CNS), with generally with recessive inheritance. They …
affecting the central nervous system (CNS), with generally with recessive inheritance. They …
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America
R Kohan, MN Carabelos, W Xin, K Sims, N Guelbert… - Gene, 2013 - Elsevier
Tripeptidyl-peptidase 1 (TPP1) null or residual activity occurs in neuronal ceroid
lipofuscinosis (NCL) with underlying TPP1/CLN2 mutations. A survey of 25 South American …
lipofuscinosis (NCL) with underlying TPP1/CLN2 mutations. A survey of 25 South American …
Next-generation sequencing analysis reveals novel pathogenic variants in four Chinese siblings with late-infantile neuronal ceroid lipofuscinosis
XT Ren, XH Wang, CH Ding, X Shen, H Zhang… - Frontiers in …, 2019 - frontiersin.org
Neuronal Ceroid Lipofuscinoses (NCLs) are progressive degenerative diseases mainly
affect brain and retina. They are characterized by accumulation of autofluorescent storage …
affect brain and retina. They are characterized by accumulation of autofluorescent storage …
[HTML][HTML] A Mutational Hotspot in The LAMP2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c. 877C> T Variant: A Descriptive …
S Kavousi, M Dalili, B Rabbani… - Cell Journal …, 2024 - ncbi.nlm.nih.gov
Objective: Danon disease is defined by a clinical trio of cardiomyopathy, skeletal myopathy,
and cognitive impairment. It results from the lysosomal-associated membrane protein-2 …
and cognitive impairment. It results from the lysosomal-associated membrane protein-2 …