[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 …
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 …
International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on …
The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes
that have a variable age of onset, based on expert consensus of the International League …
that have a variable age of onset, based on expert consensus of the International League …
[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 …
The neuronal ceroid-lipofuscinoses (Batten disease)
SE Mole, A Schulz - Rosenberg's Molecular and Genetic Basis of …, 2025 - Elsevier
The neuronal ceroid-lipofuscinoses (NCLs), collectively also called Batten disease,
constitute one of the most common groups of inherited neurodegenerative disorders in …
constitute one of the most common groups of inherited neurodegenerative disorders in …
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 …
Neuronal ceroid lipofuscinoses
The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate
cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL …
cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL …
[HTML][HTML] Cell biology and function of neuronal ceroid lipofuscinosis-related proteins
K Kollmann, K Uusi-Rauva, E Scifo, J Tyynelä… - … et Biophysica Acta (BBA …, 2013 - Elsevier
Neuronal ceroid lipofuscinoses (NCL) comprise a group of inherited lysosomal disorders
with variable age of onset, characterized by lysosomal accumulation of autofluorescent …
with variable age of onset, characterized by lysosomal accumulation of autofluorescent …
[HTML][HTML] Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
disorders that mainly affect children and are grouped together by similar clinical features …
disorders that mainly affect children and are grouped together by similar clinical features …
The CLN3 gene and protein: What we know
M Mirza, A Vainshtein, A DiRonza… - Molecular genetics & …, 2019 - Wiley Online Library
Background One of the most important steps taken by Beyond Batten Disease Foundation in
our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science …
our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science …