Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort

Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses

(2019) Alfried Kohlschütter et al.   CNS DRUGS

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

(2019) Emily Gardner et al.   HUMAN MUTATION

Late-onset childhood neuronal ceroid lipofuscinosis: Early clinical and electroencephalographic markers

(2018) Lucas Beltrán et al.   EPILEPSY RESEARCH

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

(2018) Angela Schulz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Immunogenicity to cerliponase alfa intracerebroventricular enzyme replacement therapy for CLN2 disease: Results from a Phase 1/2 study

(2018) Anu Cherukuri et al.   CLINICAL IMMUNOLOGY

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

(2018) Sara E Mole et al.   LANCET NEUROLOGY

Intracerebroventricular Delivery as a Safe, Long-Term Route of Drug Administration

(2017) Jessica L. Cohen-Pfeffer et al.   PEDIATRIC NEUROLOGY

Management Strategies for CLN2 Disease

(2017) Ruth E. Williams et al.   PEDIATRIC NEUROLOGY

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

(2016) Michael Fietz et al.   MOLECULAR GENETICS AND METABOLISM

Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis

(2015) Jui-Yun Lu et al.   MOLECULAR GENETICS AND METABOLISM

NCL diseases — clinical perspectives

(2013) Angela Schulz et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Clinical, Electrophysiological, Imaging, and Ultrastructural Description in 68 Patients With Neuronal Ceroid Lipofuscinoses and Its Subtypes

(2013) Rakesh H. Jadav et al.   PEDIATRIC NEUROLOGY

Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis

(2011) Brian R. Vuillemenot et al.   MOLECULAR GENETICS AND METABOLISM