Results 161 to 170 of about 9,201,564 (391)

Testing a MultiTEP-based combination vaccine to reduce Aβ and tau pathology in Tau22/5xFAD bigenic mice. [PDF]

open access: yes, 2019
BackgroundAlzheimer disease (AD) is characterized by the accumulation of beta-amyloid (Aβ) plaques and neurofibrillary tangles composed of hyperphosphorylated tau, which together lead to neurodegeneration and cognitive decline.
Agadjanyan, Michael G   +14 more
core  

The role of the genetic counsellor: a systematic review of research evidence [PDF]

open access: yes
In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and ...
B Meiser   +27 more
core   +1 more source

Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease

open access: yesNature Genetics, 2004
B. Ravikumar   +10 more
semanticscholar   +1 more source

Mitochondrial dysfunction: Related diseases, influencing factors, and detection

open access: yesInterdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction is implicated in the pathogenesis of numerous diseases, including neurological disorders, cancers, and cardiovascular conditions, through mechanisms such as mitochondrial DNA mutations, dysregulation of mitochondrial network dynamics, and impaired mitophagy.
Zhaojin Li   +9 more
wiley   +1 more source

Population Pharmacokinetic and Exposure‐Efficacy Analyses of Valbenazine in Patients with Huntington's Disease: Supporting Dose Selection for Chorea Management

open access: yesThe Journal of Clinical Pharmacology, EarlyView.
Abstract Valbenazine improved chorea in individuals with Huntington's disease compared to placebo in a phase 3, placebo‐controlled study (KINECT‐HD). Population pharmacokinetics (PK) and exposure–response (E–R) analyses focused on understanding the PK characteristics of valbenazine and its active metabolite, [+]‐α‐dihydrotetrabenazine ([+]‐α‐HTBZ), and
Hoa Q. Nguyen   +5 more
wiley   +1 more source

Erratum: Prolonged survival and decreased abnormal movements in transgenic model of Huntington disease, with administration of the transglutaminase inhibitor cystamine [PDF]

open access: bronze, 2002
Sidney Altman   +20 more
openalex   +1 more source

MR‐Guidance of Gene Therapy for Brain Diseases: Moving From Palliative Treatment to Cures

open access: yesJournal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Regulatory bodies in the U.S. and Europe recently approved a gene therapy for aromatic L‐amino acid decarboxylase (AADC) deficiency, a rare neurologic disorder where a genetic mutation prevents dopamine production in the brain. Affected children fail to develop normal motor and cognitive functions.
Dalton H. Bermudez   +2 more
wiley   +1 more source

Neuroacanthocytosis: A Case Report [PDF]

open access: yesTürk Nöroloji Dergisi, 2006
The patient who had been treated symptomatically with the diagnosis of Huntington Disease was hospitalized in our clinic, got the diagnosis of neuroacanthocytosis with clinical findings and laboratory investigations was discussed in comparison with ...
Mustafa Yılmaz   +4 more
doaj  

Nutritional Outcomes in HPV‐Associated Oropharyngeal Squamous Cell Carcinoma After Transoral Robotic Surgery

open access: yesThe Laryngoscope, EarlyView.
This study evaluates how TORS, with or without adjuvant treatment, impacts swallowing and weight loss. Adjuvant treatment following TORS is associated with significantly greater long‐term weight loss but does not significantly alter swallowing outcomes. Longer duration of nasogastric tube dependence in the postoperative period is associated with higher
Vera Bzhilyanskaya   +4 more
wiley   +1 more source

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