[HTML][HTML] Genetics of the neuronal ceroid lipofuscinoses (Batten disease)
SE Mole, SL Cotman - Biochimica et Biophysica Acta (BBA)-Molecular …, 2015 - Elsevier
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
disorders that affect children and adults and are grouped together by similar clinical features …
disorders that affect children and adults and are grouped together by similar clinical features …
The cell biology of lysosomal storage disorders
AH Futerman, G Van Meer - Nature reviews Molecular cell biology, 2004 - nature.com
Lysosomal storage disorders, of which more than 40 are known, are caused by the defective
activity of lysosomal proteins, which results in the intra-lysosomal accumulation of …
activity of lysosomal proteins, which results in the intra-lysosomal accumulation of …
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 …
[HTML][HTML] Neuronal ceroid lipofuscinoses
A Jalanko, T Braulke - Biochimica et Biophysica Acta (BBA)-Molecular Cell …, 2009 - Elsevier
The neuronal ceroid lipofuscinoses (NCL) are severe neurodegenerative lysosomal storage
disorders of childhood, characterized by accumulation of autofluorescent ceroid …
disorders of childhood, characterized by accumulation of autofluorescent ceroid …
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses
RE Williams, SE Mole - Neurology, 2012 - AAN Enterprises
We provide a new classification for the neuronal ceroid lipofuscinoses (NCLs) that takes into
account recent genetic and biochemical advances. This was originally developed by an …
account recent genetic and biochemical advances. This was originally developed by an …
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 …
The neuronal ceroid-lipofuscinoses
M Haltia - Journal of Neuropathology & Experimental Neurology, 2003 - academic.oup.com
The neuronal ceroid-lipofuscinoses (NCLs) collectively constitute the most common group of
neurodegenerative diseases in childhood and usually show an autosomal recessive mode …
neurodegenerative diseases in childhood and usually show an autosomal recessive mode …
The genetic basis of phenotypic heterogeneity in the neuronal ceroid lipofuscinoses
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
disorders that affect children and adults. They share some similar clinical features and the …
disorders that affect children and adults. They share some similar clinical features and the …
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
E Siintola, M Topcu, N Aula, H Lohi… - The American Journal of …, 2007 - cell.com
The late-infantile–onset forms are the most genetically heterogeneous group among the
autosomal recessively inherited neurodegenerative disorders, the neuronal ceroid …
autosomal recessively inherited neurodegenerative disorders, the neuronal ceroid …
[HTML][HTML] The neuronal ceroid-lipofuscinoses: from past to present
M Haltia - Biochimica Et Biophysica Acta (BBA)-Molecular Basis …, 2006 - Elsevier
The neuronal ceroid-lipofuscinoses (NCLs) are inherited lysosomal storage diseases and
constitute the most common group of children's progressive encephalopathies. Most …
constitute the most common group of children's progressive encephalopathies. Most …