Results 131 to 140 of about 4,597 (153)

Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis

International Journal of Molecular Sciences, 2022
Justyna Paprocka, Sylwia Kozak, Konrad Kaminiów   +2 more
exaly  

Atypical neuronal ceroid lipofuscinosis type 2 (CLN2 disease): A case report

Molecular Genetics and Metabolism, 2020
Carmen Silvia Curiati Mendes, Maret Rand, Marco A. Curiati, Ana M. Martins   +3 more
openaire   +1 more source

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report

Genes, 2021
Anna Winczewska-Wiktor, Magdalena Badura-Stronka, Anna Pietrzak   +2 more
exaly  

Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis

Autophagy, 2020
Marina Mikhaylova, André R A Marques, Alessandro Di Spiezio   +2 more
exaly  

Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis

FEBS Letters, 1993
David Palmer, Jaana Tyynelä, M Haltia   +2 more
exaly  

Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities

Pediatric Neurology, 2016
Emily De Los Reyes
exaly  

Current understanding of language development in late infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)

Molecular Genetics and Metabolism, 2020
Miriam Nickel, Nicola Specchio, Rebecca Greenaway, Christiane Hamborg, Benedetta Ragni, Tanja Ribitzki, Ilaria Tondo, Paul Gissen, Angela Schulz   +8 more
openaire   +1 more source

Neuronal Ceroid Lipofuscinosis: An Ultrastructural, Genetic, and Clinical Study Report

Ultrastructural Pathology, 2001
Filippo M Santorelli, C Bosman
exaly  

A Novel c.1135_1138delCTGT Mutation in CLN3 Leads to Juvenile Neuronal Ceroid Lipofuscinosis

Journal of Child Neurology, 2013
David Pearce, Arlene V Drack, Jacob Miller   +2 more
exaly  

MRI findings in neuronal ceroid lipofuscinosis

Radiology Case Reports, 2020
Cory Pfeifer
exaly