Results 41 to 50 of about 127,576 (299)

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Prediction of Myasthenia Gravis Worsening: A Machine Learning Algorithm Using Wearables and Patient‐Reported Measures

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein, Haoqi Sun, Sophie Lehnerer, Lea Gerischer, Maximilian Mönch, Christian Meisel, Andreas Meisel, Pushpa Narayanaswami   +7 more
wiley   +1 more source

A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease [PDF]

, 2016
Huntington disease-like 2 (HDL2) and Huntington disease (HD) are adult-onset neurodegenerative diseases characterized by movement disorders, psychiatric disturbances and cognitive decline.
Cho, Richard W., Krench, Megan A., Littleton, J. Troy   +2 more
core   +1 more source

Parkinsonism with a Hint of Huntington’s from 29 CAG Repeats in HTT

Brain Sciences, 2019
Huntington’s disease is caused by at least 36 cytosine-adenine-guanine (CAG) repeats in an HTT gene allele, but repeat tracts in the intermediate range (27−35 repeats) also display a subtle phenotype. This patient had a slightly elongated CAG
Sipilä JOT
doaj   +1 more source

Huntington\u27s Disease--A Review [PDF]

, 2016
Huntington’s disease is degenerative and effects both cognitive and motor functioning, beginning in the 20s and continuing a decline for about two decades until death.
Dunn, Christen
core   +1 more source

Huntington’s disease: Neuropsychiatric manifestations of Huntington’s disease [PDF]

Australasian Psychiatry, 2018
Objectives: Huntington’s disease (HD) is a profoundly incapacitating, and ultimately fatal, neurodegenerative disease. HD is presently incurable, so the current goal is to allow affected individuals to live as well as possible with the illness, to maximise functional independence and quality of life for the person with HD, their carers and family ...
Anita MY Goh, Pierre Wibawa, Samantha M Loi, Mark Walterfang, Dennis Velakoulis, Jeffrey CL Looi   +5 more
openaire   +3 more sources

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

A Right to Choose?: Sex Selection in the International Context [PDF]

, 2007
While there is some debate among doctors, ethicists, and the general public about the level of medical necessity that should justify a sex-selection procedure, most accept that sex selection for medical reasons is beyond ethical reproach, and in some ...
Bumgarner, Ashley
core   +2 more sources

Testicular degeneration in Huntington disease

Neurobiology of Disease, 2007
Huntington disease (HD) is an adult onset, neurodegenerative disorder that results from CAG expansion in the HD gene. Recent work has demonstrated testicular degeneration in mouse models of HD and alterations in the hypothalamic–pituitary–gonadal (HPG ...
Jeremy M. Van Raamsdonk, Zoe Murphy, David M. Selva, Reza Hamidizadeh, Jacqueline Pearson, Ǻsa Petersén, Maria Björkqvist, Cameron Muir, Ian R. Mackenzie, Geoffrey L. Hammond, A. Wayne Vogl, Michael R. Hayden, Blair R. Leavitt   +12 more
doaj   +1 more source

Full-length huntingtin is palmitoylated at multiple sites and post-translationally myristoylated following caspase-cleavage

Frontiers in Physiology, 2023
Introduction: Huntington disease is an autosomal dominant neurodegenerative disorder which is caused by a CAG repeat expansion in the HTT gene that codes for an elongated polyglutamine tract in the huntingtin (HTT) protein.
Fanny L. Lemarié, Shaun S. Sanders, Yen Nguyen, Dale D. O. Martin, Michael R. Hayden   +4 more
doaj   +1 more source