Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses
The neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous
neurodegenerative disorders. Most are autosomal recessively inherited. Clinical features …
neurodegenerative disorders. Most are autosomal recessively inherited. Clinical features …
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
SE Mole, RE Williams, HH Goebel - Neurogenetics, 2005 - Springer
The neuronal ceroid lipofuscinoses (NCLs) are a group of severe neurodegenerative
diseases with onset usually in childhood and characterised by the intracellular accumulation …
diseases with onset usually in childhood and characterised by the intracellular accumulation …
Neuronal ceroid lipofuscinosis: the multifaceted approach to the clinical issues, an overview
A Simonati, RE Williams - Frontiers in neurology, 2022 - frontiersin.org
The main aim of this review is to summarize the current state-of-art in the field of childhood
Neuronal Ceroid Lipofuscinosis (NCL), a group of rare neurodegenerative disorders. These …
Neuronal Ceroid Lipofuscinosis (NCL), a group of rare neurodegenerative disorders. These …
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6
The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for
most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been …
most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been …
Current state of clinical and morphological features in human NCL
HH Goebel, KE Wisniewski - Brain pathology, 2004 - Wiley Online Library
The neuronal ceroid lipofuscinoses (NCL) are large group of autosomal recessive lysosomal
storage disorders with both enzymatic deficiency and structural protein dysfunction …
storage disorders with both enzymatic deficiency and structural protein dysfunction …
Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6)
MJ Oswald, DN Palmer, GW Kay, SJA Shemilt… - Neurobiology of …, 2005 - Elsevier
The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are fatal inherited
neurodegenerative diseases characterized by gross brain atrophy, blindness, and …
neurodegenerative diseases characterized by gross brain atrophy, blindness, and …
CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein
The neuronal ceroid lipofuscinoses (NCLs) are severe inherited neurodegenerative
disorders affecting children. In this disease, lysosomes accumulate autofluorescent storage …
disorders affecting children. In this disease, lysosomes accumulate autofluorescent storage …
The genetic spectrum of human neuronal ceroid‐lipofuscinoses
SE Mole - Brain pathology, 2004 - Wiley Online Library
The neuronal ceroid lipofuscinoses (NCL), also known as Batten disease, are a group of
inherited severe neurodegenerative disorders primarily affecting children. They are …
inherited severe neurodegenerative disorders primarily affecting children. They are …
The neuronal ceroid‐lipofuscinoses
MJ Bennett, D Rakheja - Developmental disabilities research …, 2013 - Wiley Online Library
The neuronal ceroid‐lipofuscinoses (NCL's, Batten disease) represent a group of severe
neurodegenerative diseases, which mostly present in childhood. The phenotypes are similar …
neurodegenerative diseases, which mostly present in childhood. The phenotypes are similar …
Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A
C Heine, B Koch, S Storch, A Kohlschutter… - Journal of Biological …, 2004 - ASBMB
Variant late infantile neuronal ceroid lipofuscinosis, a lysosomal storage disorder
characterized by progressive mental deterioration and blindness, is caused by mutations in …
characterized by progressive mental deterioration and blindness, is caused by mutations in …