Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

(2012) Jose Bras et al.   HUMAN MOLECULAR GENETICS

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

(2012) R. E. Williams et al.   NEUROLOGY

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

(2011) Lenka Nosková et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The epidemiology of progressive intellectual and neurological deterioration in childhood

(2009) C. Verity et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

(2009) Natalia Cannelli et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Towards understanding the neuronal ceroid lipofuscinoses

(2009) Alfried Kohlschütter et al.   BRAIN & DEVELOPMENT

The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland

(2009) SJ Moore et al.   CLINICAL GENETICS

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis

(2009) Chiara Aiello et al.   HUMAN MUTATION

A novelCLN8mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function

(2009) Chiara Vantaggiato et al.   HUMAN MUTATION

Variant Late Infantile Neuronal Ceroid Lipofuscinosis Because of CLN1 Mutations

(2009) Alessandro Simonati et al.   PEDIATRIC NEUROLOGY