Classification and Natural History of the Neuronal Ceroid Lipofuscinoses

Methodology of clinical research in rare diseases: Development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates

(2013) Elisabeth A. de Blieck et al.   Contemporary Clinical Trials

Do females with juvenile ceroid lipofuscinosis (Batten disease) have a more severe disease course? The Danish experience

(2012) Anders K. Nielsen et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

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

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

(2011) Todor Arsov et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Females experience a more severe disease course in batten disease

(2011) Jennifer Cialone et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease)

(2011) J. R. Ostergaard et al.   NEUROLOGY

Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)

(2011) J. M. Kwon et al.   NEUROLOGY

Infantile Type of So-called Neuronal Ceroid-lipofuscinosis

(2010) Pirkko Santavuori et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)

(2010) HEATHER R ADAMS et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL

(2010) W. Xin et al.   NEUROLOGY

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

(2009) Maria Kousi et al.   BRAIN