Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate

Cysteamine Therapy for Children with Nephropathic Cystinosis

William A. Gahl, George F. Reed, Jess G. Thoene et al. · New England Journal of Medicine · 1987 · 314 citations

Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase

María Borrell-Pagés · Journal of Clinical Investigation · 2006 · 230 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Bdnf Levels +15

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

Amit Kumar Das, Carlos Becerra, Weijie Yi et al. · Journal of Clinical Investigation · 1998 · 155 citations · Full text

Ppt Enzyme Activity, Neurodegenerative Diseases, Ppt Gene +13

Lysosomal ceroid depletion by drugs: Therapeutic implications for a hereditary neurodegenerative disease of childhood

Zhongjian Zhang, Jean DeB. Butler, Sondra W. Levin et al. · Nature Medicine · 2001 · 82 citations

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +10

Juvenile Neuronal Ceroid Lipofuscinosis (JNCL): Quantitative Description of Its Clinical Variability

Alfried Kohlschütter, R. LAABS, M. Albani · Acta Paediatrica · 1988 · 58 citations