Results 81 to 90 of about 3,421 (195)

The Neuronal Ceroid‐Lipofuscinoses. Recent Advances

Brain Pathology, 1998
The neuronal ceroid lipofuscinoses (NCLs) represent a group of neurodegenerative disorders characterised by progressive visual failure, neurodegeneration, epilepsy and the accumulation of an autofluorescent lipopigment in neurons and other cells. The main childhood subtypes are infantile (INCL;CLN1), classical late infantile (LINCL;CLN2) and juvenile ...
H H, Goebel, J D, Sharp
openaire   +3 more sources

Fundamental Neurochemistry Review: Sphingolipids and Ceramides in Brain Development

Journal of Neurochemistry, Volume 169, Issue 10, October 2025.
Ceramides and sphingolipids in brain development and cell compartments. Ceramides and sphingolipids are known to influence multiple steps of brain development, including the formation of the neural tube, neural stem cell polarity and proliferation at the ventricular boundary, neuronal migration—for example, whilst migrating on radial glial processes ...
Kaviya Chinnappa, Fiona Ballorin, Fiona Francis   +2 more
wiley   +1 more source

Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation [PDF]

, 2018
Defects in the MFSD8 gene encoding the lysosomal membrane protein CLN7 lead to CLN7 disease, a neurodegenerative lysosomal storage disorder belonging to the group of neuronal ceroid lipofuscinoses (NCLs). Here we have performed a SILAC-based quantitative
Ariunbat, K, Brocke-Ahmadinejad, N, Danyukova, T, Mole, SE, Storch, S, Thelen, M   +5 more
core   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Molecular and cellular biology of infantile neuronal ceroid lipofuscinosis (INCL) [PDF]

, 2001
Väitöskirj
Salonen, Tarja
core  

Using 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 more
core   +1 more source

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology, Volume 98, Issue 3, Page 561-572, September 2025.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci   +79 more
wiley   +1 more source

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population [PDF]

, 2015
International audienceAbstractBackgroundCerebellar atrophy and developmental delay are commonly associated features in large numbers of genetic diseases that frequently also include epilepsy. These defects are highly heterogeneous on both the genetic and
Bahi-Buisson, Nadia, Barcia, Giulia, Boddaert, Nathalie, Bole-Feysot, Christine, Cantagrel, Vincent, Colleaux, Laurence, Desguerre, Isabelle, Masson, Cécile, Medina-Cano, Daniel, Megahed, Hisham, Munnich, Arnold, Nicouleau, Michaël, Nitschké, Patrick, Parisot, Mélanie, Rio, Marlène, Siquier-Pernet, Karine   +15 more
core   +7 more sources

Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice

Neurobiology of Disease, 2005
The neuronal ceroid lipofuscinoses are a newly-recognized group of lysosomal storage disorders in which neurodegeneration predominates. The pathophysiological basis for this is unknown.
Tuhin Virmani, Praveena Gupta, Xinran Liu, Ege T. Kavalali, Sandra L. Hofmann   +4 more
doaj   +1 more source

Clinical phenotype features and genetic etiologies of 38 children with progressive myoclonic epilepsy

Acta Epileptologica, 2020
Background Progressive myoclonic epilepsy (PME) is a group of neurodegenerative diseases with genetic heterogeneity and phenotypic similarities, and many cases remain unknown of the genetic causes. This study is aim to summarize the clinical features and
Jing Zhang, Ying Yang, Xueyang Niu, Jiaoyang Chen, Wei Sun, Changhong Ding, Lifang Dai, Liping Zhang, Qi Zeng, Yi Chen, Xiaojuan Tian, Xiaoling Yang, Taoyun Ji, Zhixian Yang, Yanling Yang, Yuwu Jiang, Yuehua Zhang   +16 more
doaj   +1 more source