Results 71 to 80 of about 5,984 (245)
Athetosis in Typhoid Fever [PDF]
Journal of the Royal Army Medical Corps, 1986 A case of typhoid fever with neuropsychiatric features is described. These comprised confusion and delirium, meningism, a single major convulsion and bilateral athetoic movements. Athetosis has not previously been described in typhoid fever and must now be added to the long list of neuropsychiatric manifestations of this disease.
openaire +3 more sources
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy [PDF]
, 2014 Recessive mutations in chromosome 10 open reading frame 2 (C10orf2) are relevant in infantile-onset spinocerebellar ataxia (IOSCA). In this study, we investigated the causative mutation in a Korean family with combined phenotypes of IOSCA, sensorimotor ...
Bo Ram Yoon +11 more
core +1 more source
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome
Neurology: Genetics, 2017 The protein product of the Drosophila additional sex combs-like (Asx) gene was shown to be a regulator, both a suppressor and an activator, of Hox developmental genes.
Rubina Dad +5 more
semanticscholar +1 more source
Movement Disorders, EarlyView.Abstract Background Parkinsonism in infancy is rare and is highly correlated with the presence of dystonia. Advances in treating and characterizing developmental and infantile degenerative parkinsonism have highlighted the need for a specialized assessment scale.
Roser Pons +16 more
wiley +1 more source
Clinical Genetics, EarlyView.Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl +15 more
wiley +1 more source
Diagnosis of multiple sclerosis and Fahr's Disease in a young woman: A case report (PP-15) [PDF]
Neurology Letters, 2023 Fahr’s disease is a progressive and idiopathic basal ganglia calcification with normal metabolism of calcium and phosphore with motor and psychiatric sings and symptoms.
Mohammadreza Malek Zadeh +2 more
doaj
The MS Symptom and Impact Diary (MSSID): psychometric evaluation of a new instrument to measure the day to day impact of multiple sclerosis [PDF]
, 2004 OBJECTIVES: This study aimed to develop further a diary originally devised to measure the impact of multiple sclerosis (MS) as part of a cost utility study of beta interferon, and to evaluate its reliability, validity, and responsiveness in an ...
Ford, H +3 more
core +2 more sources
Movement Disorders, Volume 40, Issue 5, Page 938-949, May 2025.Abstract Background Patients with mutations in the monocarboxylate transporter 8 (MCT8, SLC16A2) suffer from X‐linked recessive Allan‐Herndon‐Dudley syndrome (AHDS), which is characterized by developmental delay and a severe movement disorder. Current trials using thyroid hormone derivatives to overcome the transporter defect have failed to achieve ...
Nina‐Maria Wilpert +21 more
wiley +1 more source
Cerebral palsy in a total population of 4–11 year olds in southern Sweden. Prevalence and distribution according to different CP classification systems [PDF]
, 2007 Background The aim of this study was to investigate the prevalence of cerebral palsy (CP) as well as to characterize the CP population, its participation in a secondary prevention programme (CPUP) and to validate the CPUP database.
AF Colver +33 more
core +3 more sources