Results 81 to 90 of about 2,625 (156)

Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies

The Turkish Journal of Pediatrics, 2004
Neuronal ceroid lipofuscinosis (NCL) is one of the most common progressive neurodegenerative diseases seen in childhood. NCL is inherited as autosomal recessive trait, and is characterized by the accumulation of 'ceroid lipofuscin' in neuronal and
Meral Topçu, Gülşen Köse, Güzide Turanli, Haluk Topaloğlu, Banu Anlar, Müjgan Aynaci, Işil Saatçi, Alp Usubütün, Dilek Yalnizoğlu, Hüseyin Tan, Sabiha Aysun   +10 more
doaj  

Juvenile neuronal ceroid lipofuscinosis [PDF]

, 2020
openaire   +1 more source

Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium. [PDF]

Biochim Biophys Acta Mol Basis Dis, 2020
Zhong Y, Mohan K, Liu J, Al-Attar A, Lin P, Flight RM, Sun Q, Warmoes MO, Deshpande RR, Liu H, Jung KS, Mitov MI, Lin N, Butterfield DA, Lu S, Liu J, Moseley HNB, Fan TWM, Kleinman ME, Wang QJ.   +19 more
europepmc   +1 more source

CLN3 deficiency leads to neurological and metabolic perturbations during early development

Life Science Alliance
Cln3 CRISPR mutant zebrafish larvae display BMP depletion and accumulation of glycerophosphodiesters and cholesteryl esters at very early developmental stages, recapitulating key features of human CLN3 disease. Juvenile neuronal ceroid lipofuscinosis (or
Ursula Heins-Marroquin, Randolph R Singh, Simon Perathoner, Floriane Gavotto, Carla Merino Ruiz, Myrto Patraskaki, Gemma Gomez-Giro, Felix Kleine Borgmann, Melanie Meyer, Anaïs Carpentier, Marc O Warmoes, Christian Jäger, Michel Mittelbronn, Jens C Schwamborn, Maria Lorena Cordero-Maldonado, Alexander D Crawford, Emma L Schymanski, Carole L Linster   +17 more
doaj   +1 more source

The parent and family impact of CLN3 disease: an observational survey-based study

Orphanet Journal of Rare Diseases
Background CLN3 disease (also known as CLN3 Batten disease or Juvenile Neuronal Ceroid Lipofuscinosis) is a rare pediatric neurodegenerative disorder caused by biallelic mutations in CLN3.
Angela Schulz, Nita Patel, Jon J. Brudvig, Frank Stehr, Jill M. Weimer, Erika F. Augustine   +5 more
doaj   +1 more source

Topological Alterations of the Structural Brain Connectivity Network in Children with Juvenile Neuronal Ceroid Lipofuscinosis. [PDF]

AJNR Am J Neuroradiol, 2019
Roine T, Roine U, Tokola A, Balk MH, Mannerkoski M, Åberg L, Lönnqvist T, Autti T.   +7 more
europepmc   +1 more source

Astrocytes in juvenile neuronal ceroid lipofuscinosis (CLN3) display metabolic and calcium signaling abnormalities. [PDF]

J Neurochem, 2019
Bosch ME, Kielian T.
europepmc   +1 more source

Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis. [PDF]

AJNR Am J Neuroradiol, 2018
Roine U, Roine TJ, Hakkarainen A, Tokola A, Balk MH, Mannerkoski M, Åberg LE, Lönnqvist T, Autti T.   +8 more
europepmc   +1 more source

Elevated tripeptidyl-peptidase 1 corrects multiple disease phenotypes in a mouse model of juvenile neuronal ceroid lipofuscinosis. [PDF]

Mol Ther Methods Clin Dev
Banach-Petrosky W, Larrimore KE, Sleat EH, Bazer A, Samuels B, Tan Y, Melton AC, Ichida JK, Logan TP, Lobel P, Sleat DE.   +10 more
europepmc   +1 more source

Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis). [PDF]

JIMD Rep, 2019
Augustine EF, Beck CA, Adams HR, Defendorf S, Vierhile A, Timm D, Weimer JM, Mink JW, Marshall FJ.   +8 more
europepmc   +1 more source