Results 71 to 80 of about 425 (135)

Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin

Data in Brief, 2016
The article contains raw and analyzed data related to the research article “Neuronal ceroid lipofuscinosis genes, CLN2, CLN3, CLN5 are spatially and temporally co-expressed in a developing mouse brain” (Fabritius et al., 2014) [1].
Helena M. Minye, Anna-Liisa Fabritius, Jouni Vesa, Leena Peltonen   +3 more
doaj   +1 more source

Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice

Disease Models & Mechanisms, 2013
SUMMARY Both CLN1 and CLN5 deficiencies lead to severe neurodegenerative diseases of childhood, known as neuronal ceroid lipofuscinoses (NCLs). The broadly similar phenotypes of NCL mouse models, and the potential for interactions between NCL proteins ...
Tea Blom, Mia-Lisa Schmiedt, Andrew M. Wong, Aija Kyttälä, Jarkko Soronen, Matti Jauhiainen, Jaana Tyynelä, Jonathan D. Cooper, Anu Jalanko   +8 more
doaj   +1 more source

Juvenile neuronal ceroid lipofuscinosis and education

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2013
Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4-8 years, and a developmental course that includes blindness, epilepsy, speech problems, dementia, motor coordination problems, and emotional reactions. There is presently no cure and the disease leads to premature death.
von Tetzchner, Stephen, Fosse, Per, Elmerskog, Bengt   +2 more
openaire   +2 more sources

Editorial: Neuronal ceroid lipofuscinosis: A multidisciplinary update

Frontiers in Neurology, 2022
Alessandro Simonati, Ruth Elizabeth Williams, Angela Schulz   +2 more
doaj   +1 more source

Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

Therapeutics and Clinical Risk Management, 2020
Nicola Specchio, Nicola Pietrafusa, Marina Trivisano Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyCorrespondence: Nicola SpecchioDepartment of Neuroscience, Bambino Ges ...
Specchio N, Pietrafusa N, Trivisano M
doaj  

Neuronal Ceroid Lipofuscinosis [PDF]

, 2020
openaire   +3 more sources

Neuronal ceroid lipofuscinosis

, 2021
openaire   +1 more source

Neuronal Ceroid-lipofuscinosis in Nubian Goats [PDF]

Veterinary Pathology, 1988
R A, Fiske, R W, Storts
openaire   +2 more sources

Neuronal ceroid lipofuscinosis

, 2016
Maxime St-Amant, Arlene Campos, Rohit Sharma   +2 more
openaire   +1 more source

Editorial: Neuronal ceroid lipofuscinosis: molecular genetics and epigenetics

Frontiers in Genetics
Paschalis Nicolaou
doaj   +1 more source