Results 61 to 70 of about 2,772 (216)

Hepatolenticular degeneration with hidden pathology of liver: Case report

Анналы клинической и экспериментальной неврологии, 2017
A case of hepatolenticular degeneration (HLD) in a 27-year-old patient is reported. The earliest signs of the disease were observed as isolated psychoneurological symptoms (mainly as polymorphic extrapyramidal and cerebellar disorders). Neither clinical,
Nadezhda V. Vyalova, Denis S. Doloka, Tatyana N. Proskokova, Aleksandr M. Khelimskiy   +3 more
doaj   +1 more source

A Network Centered on the Visual‐Motor Cortex Is Critically Involved in Postural Abnormality in Parkinson's Disease

Movement Disorders, Volume 41, Issue 1, Page 156-167, January 2026.
Abstract Background Postural abnormality (PA) is a key motor symptom in Parkinson's disease (PD) that leads to disability and death. However, the pathophysiology underlying PA is still unknown. Objective The objective of this study was to explore the neural patterns behind PAs and measures toward functional restoration using repetitive transcranial ...
Zhuang Wu, Sha Zhu, Ronghua Hong, Zhuoyu Zhang, Yanzi Peng, Jingxing Zhang, Lizhen Pan, Qiang Guan, Yuhui Chen, Lingjing Jin   +9 more
wiley   +1 more source

Вплив надмірного харчування в ранньому періоді постнатального онтогенезу на прооксидантно-антиоксидантний баланс і NO-синтазну активність в тканинах старих щурів [PDF]

, 2010
Досліджено особливості змін прооксидантно-антиоксидантного балансу, тиреоїдного статусу та NO-синтазної активності у тканинах 20-місячних щурів, які одержували надмірне харчування протягом першого місяця після народження.
Бондар, В.В., Дзюба, В.М., Нікітченко, Ю.В., Попович, А.С., Шеремет, Г.О.   +4 more
core  

Familial Mediterranean Fever Mimicking Wilson’s Disease: A Case Report

Journal of Pediatric Research, 2018
Wilson’s disease (hepatolenticular degeneration) is an autosomal recessive defect in cellular copper transport. Impaired biliary copper excretion leads to an accumulation of copper mostly in the liver, brain and cornea. Familial Mediterranean Fever (FMF)
Caner Turan, Miray Karakoyun, Çiğdem Ömür Ecevit, Funda Yılmaz, Sema Aydoğdu   +4 more
doaj   +1 more source

Dysphagia in Huntington's Disease: An Evaluation of Swallowing Disturbance across the HD‐ISS Staging Spectrum

Movement Disorders Clinical Practice, Volume 12, Issue 12, Page 2296-2303, December 2025.
ABSTRACT Background The onset and pattern of progression of swallowing impairment in HD remain poorly understood. The Swallowing Disturbance Questionnaire (SDQ) has proven useful in assessing dysphagia across various neurological conditions, but its use in HD remains largely unexplored. Objectives To evaluate swallowing difficulties in HD using the SDQ
Japleen Kaur, Krisha Bagga, Paul E. Gilbert, Jody Corey‐Bloom   +3 more
wiley   +1 more source

Evaluación de la eficacia y seguridad del tratamiento con tetratiomolibdato de amonio en la enfermedad de Wilson con afectación neurológica [PDF]

, 2012
El tractament actual de la malaltia de Wilson amb afectació neurològica és controvertit. Els fàrmacs actuals s'associen a risc de deteriorament neurològic (50% amb penicilamina i 26% amb trientine).
Miquel Rodríguez, Francesc, Palasí Franco, Antoni, Universitat Autònoma de Barcelona. Departament de Medicina, Universitat Autònoma de Barcelona. Facultat de Medicina, Álvarez Sabín, José   +4 more
core  

Advances in Treatment of Wilson Disease [PDF]

, 2018
Background: Wilson disease (WD) is an inherited neurometabolic disorder that results in excessive copper deposition in the liver and the brain, affecting children and young adults. Without treatment the disease is invariably fatal.
Aggarwal, Annu, Bhatt, Mohit
core   +2 more sources

Hepatolenticular degeneration: analysis of neurological manifestations under treatment in 76 patients

Arquivos de Neuro-Psiquiatria, 1991
A series of 76 patients with hepatolenticular degeneration (HLD) followed up at the Hospital of the University of São Paulo Medical School between 1963 and 1988 have been studied focusing the evolution under treatment of neurological features.
Egberto R. Barbosa, Milberto Scaff, Horácio M. Canelas   +2 more
doaj   +1 more source

Spasmodic Dysphonia

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 4, Page 548-567, December 2025.
ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley   +1 more source

Zn, Cu, Cd and Hg binding to metallothioneins in harbour porpoises Phocoena phocoena from the southern North Sea [PDF]

, 2006
Background: Harbour porpoises Phocoena phocoena from the southern North Sea are known to display high levels of Zn and Hg in their tissues linked to their nutritional status (emaciation). The question arises regarding a potential role of metallothioneins
Bouquegneau, J.-M., Das, K., De Groof, A., Jauniaux, T.   +3 more
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