Results 91 to 100 of about 91,965 (229)

The Clinical Manifestation of Homozygous Huntington's Disease

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Huntington's disease is an incurable neurodegenerative disease with deficits in many areas including cognitive, psychiatric, and most notably, motor. It is autosomal dominant, meaning one affected allele is enough to express the condition.
Brishti Sengupta, Pritha Dasgupta
wiley   +1 more source

Spatiotemporal dynamics of the postnatal developing primate brain transcriptome. [PDF]

, 2015
Developmental changes in the temporal and spatial regulation of gene expression drive the emergence of normal mature brain function, while disruptions in these processes underlie many neurodevelopmental abnormalities.
Amaral, David G, Bakken, Trygve E, Bennett, Jeffrey L, Bernard, Amy, Bertagnolli, Darren, Geschwind, Daniel H, Lee, Chang-Kyu, Lein, Ed S, Luo, Rui, Miller, Jeremy A, Parikshak, Neelroop N, Smith, Kimberly A, Sunkin, Susan M   +12 more
core   +1 more source

Epigenetics and triplet-repeat neurological diseases [PDF]

, 2015
The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Festenstein, RJ, Nageshwaran, S
core   +2 more sources

Inhibition of the NLRP3 Inflammasome With MCC950 Improves Gut Health in Huntington's Disease Mice

Journal of Neurochemistry, Volume 170, Issue 4, April 2026.
The NLRP3 inflammasome in HD (Huntington's disease) peripheral pathology (in gastrointestinal complications) is vastly unexplored. In this preclinical study, non‐invasive readouts of gut function assessment revealed that inhibiting NLRP3 inflammasome by chronic administration of MCC950 by oral route softened the faecal pellets, improved faecal output ...
Sujan Kumar Sarkar, Millicent N. Ekwudo, Da Lu, Bethany Masson, Pamudika Kiridena, Nicholas van de Garde, Thibault Renoir, James E. Vince, Veerasikku Gopal Deepagan, Anthony J. Hannan, Carolina Gubert   +10 more
wiley   +1 more source

Role of mitochondrial raft-like microdomains in the regulation of cell apoptosis [PDF]

, 2015
Lipid rafts are envisaged as lateral assemblies of specific lipids and proteins that dissociate and associate rapidly and form functional clusters in cell membranes.
A Al-Saif, A Bertoni, A Cossarizza, A Ferri, A Israelson, A Raturi, A Valencia, A Valencia, AA Rowland, AE Rusinol, AL Nishimura, AL Wozniak, Alberto Ferri, AM Giammarioli, AO Hueber, B Kornmann, C Barbat, C Brooks, C Dall’Armi, C Frezza, C Gajate, C Garcia-Ruiz, C Garcia-Ruiz, C Martel, C Steinmann, C Vande Velde, CB Pickett, CD Austin, CH Chou, CL Schengrund, D Naon, D Scheel-Toellner, D Scheel-Toellner, DF Legler, DF Suen, DT Browman, E Bossy-Wetzel, E Lai, E Szegezdi, EM Lynes, EM Lynes, F Korobova, F Mollinedo, G Csordas, G Szabadkai, GC Shore, GM Cereghetti, H Grassmè, H Yano, I Annunziata, I Poggiolini, J Faitova, J Katz, J Stiban, JC Martinou, JC Wanson, JE Vance, JL Herrera, JR Friedman, JT Vollrath, K Banki, K Simons, K Simons, KF Ferri, KR Pitts, L Ciarlo, L Ciarlo, L Dupuis, L Scorrano, LA Lewis, M Cozzolino, M Cozzolino, M Degli Esposti, M Degli Esposti, M Fujimoto, M Hamasaki, M Hamasaki, M Karbowski, M Lutter, M Satoh, M Sorice, M Sorice, M Sorice, M Sorice, M Sorice, M Vey, Maria Grasso, Maurizio Sorice, ME Soriano, MG Martín, MM Young, MR Rippo, MT Dimanche-Boitre, N Myhill, N Naslavsky, N Zurgil, NT Watt, OM Brito de, OM Brito de, P Matarrese, P Matarrese, P Matarrese, P Pizzo, P Pizzo, P Pizzo, PA Parone, PJ Meier, R Rizzuto, R Rizzuto, R Sano, R Stoica, RG Burns, RM Siegel, Roberta Misasi, S Ayala-Peña, S Cipolat, S Eda, S Hoppins, S Montessuit, S Orrenius, S Ouasti, S Sonnino, SB Prusiner, SW Ahn, SY Gilady, T Garofalo, T Garofalo, T Gutierrez, T Hayashi, T Hayashi, T Hayashi, T Hayashi, T Kuwana, T Simmen, T Simmen, Tina Garofalo, UP Shirendeb, V Lallemand-Breitenbach, V Mattei, V Mattei, V Mattei, Valeria Manganelli, Vincenzo Mattei, W Hu, W Malorni, W Song, W Song, X Guo, Y Higuchi, Y Yoon, Y Zhang, YJ Lee, Z Sui, Z Wieslaw   +153 more
core   +1 more source

Mycochemical Diversity and Therapeutic Potential of Hymenochaetoid Fungi from Central Asia: Regional and Global Perspectives

New Zealand Journal of Botany, Volume 64, Issue 1, March 2026.
Central Asia harbors a rich yet understudied assemblage of wood‐inhabiting Hymenochaetoid fungi. This review delivers the first comprehensive synthesis of 43 poroid species representing 18 genera documented across montane forests, steppes, and xeric habitats.
Yusufjon Gafforov, Milena Rašeta, Sylvie Rapior, Manzura Yarasheva, Oksana Mykchaylova, Rustamjon Allaberdiev, Şule İnci, Dilfuza Berdieva, Arshad Mehmood Abbasi, Shikhnazar Khodjaev, Dian‐Ming Hu, Weijun Yang, Abudujilili Abuduaini, Maria Letizia Taddei, Mengcen Wang, Islomjon Urinboev, Jiajia Chen   +16 more
wiley   +1 more source

Childhood-onset (Juvenile) Huntington's disease: A rare case report

Journal of Pediatric Neurosciences, 2015
Huntington′s disease (HD) is a rare dominantly inherited neurodegenerative disorder characterized clinically by a combination of abnormal involuntary (choreic) movements, neuropsychiatric manifestations, and dementia.
K. Patra, M. Shirolkar
semanticscholar   +1 more source

Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat

Brazilian Journal of Medical and Biological Research, 2006
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that affects the striatum most severely. However, except for juvenile forms, relative preservation of the cerebellum has been reported.
H.H. Ruocco, I. Lopes-Cendes, L.M. Li, M. Santos-Silva, F. Cendes   +4 more
doaj   +1 more source

Neutral theory: applicability and neutrality of clinical study endpoints where a disease-specific instrument is available

BMC Medical Research Methodology, 2023
Background There is a pressing need to improve the accuracy of rare disease clinical study endpoints. Neutral theory, first described here, can be used to assess the accuracy of endpoints and improve their selection in rare disease clinical studies ...
Ravi Jandhyala
doaj   +1 more source

Psychosocial Impacts of Huntington's Disease on Individuals, Relatives and Family Systems: A Thematic Synthesis

Clinical Genetics, Volume 109, Issue 3, Page 403-415, March 2026.
The psychosocial impacts of Huntington's disease include disintegration with society, emotional and psychological burdens, an interplay of extrinsic stressors and recalibration of the family system. This thematic synthesis highlights the need for holistic, systemic support to address these pervasive challenges for all members of the affected family ...
Paige Lindo, Tierney Tindall, Suzanne Buswell, Selina Lock, Sarah Gunn   +4 more
wiley   +1 more source