Results 101 to 110 of about 91,965 (229)

The CAG repeat at the Huntington disease gene in the Portuguese population : insights into its dynamics and to the origin of the mutation [PDF]

, 2006
Huntington disease (HD) is caused by an expansion of a CAG repeat. This repeat is a dynamic mutation that tends to undergo intergenerational instability.
Alda Sousa, AM Andrés, B Kremer, DC Rubinsztein, EW Almqvist, F Squitieri, HL Paulson, I Vuillaume, JB Martin, Jorge Sequeiros, Laura Guimarães, M Cossée, M Duyao, M Raymond, Maria do Carmo Costa, MC Costa, N Masuda, Patrícia Maciel, Paula Magalhães, S Pramanik, SE Andrew, SE Andrew, SW Guo, The, The, WS Watkins, YP Goldberg, YP Goldberg   +27 more
core   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Voxel-based morphometry in the R6/2 transgenic mouse reveals differences between genotypes not seen with manual 2D morphometry

Neurobiology of Disease, 2009
The R6/2 mouse is the most common mouse model used for Huntington's disease (HD), a fatal, inherited neurodegenerative CAG disorder characterized by marked brain atrophy. We scanned 47 R6/2 transgenic and 42 wildtype (WT) ex vivo mouse brains at 18 weeks
S.J. Sawiak, N.I. Wood, G.B. Williams, A.J. Morton, T.A. Carpenter   +4 more
doaj   +1 more source

4472 Plasma Neurofilament Light as a Biomarker for Pediatric Patients with Huntington’s Disease

Journal of Clinical and Translational Science, 2020
OBJECTIVES/GOALS: The goal of this study is to compare plasma neurofilament light (NfL) concentrations in asymptomatic children and young adults that carry the gene expansion (GE group) that causes Huntington’s Disease to similar subjects that do not ...
Jordan L Schultz
doaj   +1 more source

Regulation of hippocampal synaptic function by the metabolic hormone, leptin:Implications for health and neurodegenerative disease [PDF]

, 2018
The role of the endocrine hormone leptin in controlling energy homeostasis in the hypothalamus are well documented. However the CNS targets for leptin are not restricted to the hypothalamus as a high density of leptin receptors are also expressed in ...
Harvey, Jenni, Mcgregor, Gemma
core   +3 more sources

Personalized Models of Biological Barriers and Their Diseases: Recent Progress with Organs‐On‐Chips

Advanced Biology, Volume 10, Issue 2, February 2026.
Buck and Bugter et al. explore the architectural diversity and physiological functions of human barrier systems and reveal how organ‐on‐chip platforms, particularly those integrating patient‐derived cells, are advancing barrier disease modeling. They highlight how emerging biological and technological advances can be used to bridge the gap between ...
Franziska Buck, Jeroen Bugter, Gizem Yorukoglu, Mina Kazemzadeh Dastjerd, Thomas E. Winkler   +4 more
wiley   +1 more source

Physical exercise-induced adult neurogenesis: A good strategy to prevent cognitive decline in neurodegenerative diseases? [PDF]

, 2014
published_or_final_versio
Christie, BR, Gil-Mohapel, J, So, KF, Yau, SY   +3 more
core   +4 more sources

Modulation of Network Plasticity Opens Novel Therapeutic Possibilities in Cancer, Diabetes, and Neurodegeneration

Advanced Science, Volume 13, Issue 12, 27 February 2026.
Plasticity changes of molecular networks form a cellular learning process. Signaling network plasticity promotes cancer, metastasis, and drug resistance development. 55 plasticity‐related cancer drug targets are listed (20 having already approved drugs, 9 investigational drugs, and 26 being drug target candidates).
Márk Kerestély, István Narozsny, Levente Szarka, Daniel V. Veres, Peter Csermely, Dávid Keresztes   +5 more
wiley   +1 more source

Ginsenoside Rg1 as a Multifunctional Therapeutic Agent: Pharmacological Properties, Molecular Mechanisms and Clinical Perspectives in Complementary Medicine

Food Science &Nutrition, Volume 14, Issue 2, February 2026.
Ginsenoside Rg1 (Rg1) from Panax ginseng shows multifunctional health effects. Although oral bioavailability is low and blood–brain barrier (BBB) penetration is limited, delivery systems such as liposomes and nanoparticles may improve exposure. Rg1 reduces inflammation/oxidative stress by inhibiting nuclear factor‐κB (NF‐κB) signaling and reactive ...
Hernán Cortés, Enrique Lima, Lorena Duarte‐Peña, Sheila I. Peña‐Corona, Zainab M. Almarhoon, Rajesh Kaverikana, Shivaprasad Shetty Mangalpady, Vinayaka Babu Shet, Nikshitha Manjeshwar, Javad Sharifi‐Rad, Jen‐Tsung Chen, Gerardo Leyva‐Gómez, William N. Setzer, Daniela Calina   +13 more
wiley   +1 more source

Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14

Neurobiology of Disease, 2014
Spinocerebellar ataxias (SCAs) are hereditary diseases leading to Purkinje cell degeneration and cerebellar dysfunction. Most forms of SCA are caused by expansion of CAG repeats similar to other polyglutamine disorders such as Huntington's disease.
Jingmin Ji, Melanie L. Hassler, Etsuko Shimobayashi, Nagendher Paka, Raphael Streit, Josef P. Kapfhammer   +5 more
doaj   +1 more source