Role of carnitine in disease

JL Flanagan, PA Simmons, J Vehige, MDP Willcox… - Nutrition & …, 2010 - Springer
Carnitine is a conditionally essential nutrient that plays a vital role in energy production and
fatty acid metabolism. Vegetarians possess a greater bioavailability than meat eaters …

[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 …

Therapeutic landscape for Batten disease: current treatments and future prospects

TB Johnson, JT Cain, KA White… - Nature Reviews …, 2019 - nature.com
Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of
devastating lysosomal storage disorders that collectively represent the most common …

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

M Kousi, AE Lehesjoki, SE Mole - Human mutation, 2012 - Wiley Online Library
The neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous
neurodegenerative disorders. Most are autosomal recessively inherited. Clinical features …

[HTML][HTML] Human pathology in NCL

GW Anderson, HH Goebel, A Simonati - Biochimica et Biophysica Acta …, 2013 - Elsevier
In childhood the neuronal ceroid lipofuscinoses (NCL) are the most frequent lysosomal
diseases and the most frequent neurodegenerative diseases but, in adulthood, they …

[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 …

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 …

Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study

M Nickel, A Simonati, D Jacoby, S Lezius… - The Lancet Child & …, 2018 - thelancet.com
Background Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease,
characterised by rapid psychomotor decline and epilepsy, is caused by deficiency of the …

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 …

The genetic basis of phenotypic heterogeneity in the neuronal ceroid lipofuscinoses

E Gardner, SE Mole - Frontiers in Neurology, 2021 - frontiersin.org
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 …