Results 61 to 70 of about 9,571 (221)
Altered Cerebellar Short-Term Plasticity but No Change in Postsynaptic AMPA-Type Glutamate Receptors in a Mouse Model of Juvenile Batten Disease [PDF]
, 2018 Juvenile Batten disease is the most common progressive neurodegenerative disorder of childhood. It is associated with mutations in the CLN3 gene, causing loss of function of CLN3 protein and degeneration of cerebellar and retinal neurons.Cull-Candy, S, Farrant, M, Mitchison, H, Needham, E, Studniarczyk, D +4 morecore +1 more sourceNeuronal Ceroid-Lipofuscinosis in Older Dachshunds [PDF]
Veterinary Pathology, 1980 A lysosomal storage disease with accumulation of periodic acid-Schiff- and Sudan black-positive autofluorescent granules in neurons occurred in one 51/2- and one 7-year-old dachshund. Ultrastructurally, the storage material consisted of membranous material arranged in stacks and fingerprint patterns.M, Vandevelde, R, Fatzeropenaire +2 more sourcesClinical Evaluation of Three KRS Families and Cellular Analysis of Distinct ATP13A2 Mutations Reveal Different Levels of Iron Accumulation
Journal of Neurochemistry, Volume 170, Issue 4, April 2026.Different ATP13A2 mutations associated with Kufor‐Rakeb Syndrome (KRS) result in varying levels of intracellular iron accumulation. Frameshift and deletion mutations lead to excessive iron accumulation and increased cell death, whereas missense mutations cause milder functional impairment, resulting in lower iron accumulation and reduced cellular ...Ezgi Erterek, Benan Temizci, Şeyma Tekgül, Bilal Çakır, A. Nazlı Başak, Murat Gültekin, Zuhal Yapıcı, Arzu Karabay +7 morewiley +1 more sourcePosition of Experts Regarding Follow-Up of Patients with Neuronal Ceroid Lipofuscinosis-2 Disease in Latin America
Journal of Inborn Errors of Metabolism and Screening, 2020 Given the lack of standardized guidance for follow-up of patients with neuronal ceroid lipofucsinosis-2 disease in Latin-American countries and the heterogeneity of the region, an expert panel was created with the participation of 11 pediatric ...Norberto Guelbert, Nora Atanacio, Inés Denzler, Emília Katiane Embiruçu, Nury Mancilla, Ricardo Naranjo, André Pessoa, Norma Spécola, Lina Tavera, Mónica Troncoso, Diane Vergara +10 moredoaj +1 more sourceComprehensive functional characterization of murine infantile Batten disease including Parkinson-like behavior and dopaminergic markers [PDF]
, 2015 Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is a neurodegenerative lysosomal storage disease caused by a deficiency in palmitoyl protein thioesterase-1 (PPT1).Dearborn, Joshua T, Fowler, Stephen C, Harmon, Steven K, O\u27Malley, Karen L, Sands, Mark S, Taylor, George T, Wozniak, David F +6 morecore +2 more sourcesExpert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT
The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi +108 morewiley +1 more sourceA novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
BMC Medical Genetics, 2018 Background Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, visual loss, seizures and early ...Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky +11 moredoaj +1 more sourceUsing C. elegans to discover therapeutic compounds for ageing-associated neurodegenerative diseases [PDF]
, 2015 Age-associated neurodegenerative disorders such as Alzheimer’s disease are a major public health challenge, due to the demographic increase in the proportion of older individuals in society.A Gutierrez-Zepeda, A Hornsten, A Lublin, A Murakami, A Tauffenberger, A Teixeira-Castro, A Teixeira-Castro, A Vaccaro, Alan Morgan, AR Burns, AV McCormick, B Lakowski, B Wolozin, BA Benitez, BB Kautu, BC Kraemer, BH Shin, BP Hubbard, C Fatouros, C Frokjaer-Jensen, C Soto, C Voisine, C Yao, CD Link, CD Link, CD Link, CD Link, CI Nussbaum-Krammer, CJ Locke, CY Ewald, D Levitan, DC Swinney, DC Swinney, DE Ehrnhoefer, DF Silva, DF Tardiff, DP Karpinar, DS Fay, E Braungart, EM Mandelkow, F Aparecida Paiva, F Cabreiro, F-X Lejeune, G McColl, G Pani, H Varma, H Wang, H Witan, HR Brignull, HV McCue, J Drake, J Li, J Liu, J Parker, J Parker, J Sämann, J Wang, JA Baur, JA Hardaway, Jeff W. Barclay, JF Morley, JN Sleigh, JP Taylor, JS Sangha, JV Smith, JW Barclay, K Evason, K Yamanaka, K-W Park, KA Caldwell, KE Matlack, L Diomede, L Diomede, L Noskova, L Xiao, LE Dosanjh, LS Schneider, M Briese, M Cadieux-Dion, M Haltia, M Haltia, M Lakso, M Marvanova, M Velinov, ML Florez-McClure, N Bizat, N Bizat, N Wittenburg, NF Liachko, NF Liachko, NT Christie, P Haldimann, PE Ash, PJ Muchowski, PW Faber, Q Ruan, R Brandt, R Keowkase, R Nass, R Nass, R Ved, R-H Fu, R-H Fu, RA Weiss, RD Burgoyne, Robert D. Burgoyne, S Abbas, S Abbas, S Alavez, S Amor, S Ayyadevara, S Buttner, S Cao, S Hamamichi, S Jagota, S Saha, S Treusch, SH Satyal, SJ Park, SM Yatin, SS Karuppagounder, SS Kashyap, T Gidalevitz, T Ham van, T Kuwahara, T Kuwahara, T Kuwahara, T Miyasaka, T Oeda, T Zhang, TJ Ham van, TT Ching, U Arya, V Crunelli, V Dostal, W Springer, X Chen, X Chen, X Yang, Xi Chen, Y Wu, Z Liu +141 morecore +1 more source
