Results 81 to 90 of about 14,411 (189)
International Journal of Developmental Neuroscience, Volume 86, Issue 2, April 2026.Our short communication establishes that the most severe, early‐onset presentation of ATP8A2 deficiency is a congenital encephalopathy hallmarked by prominent, nonprogressive hyperkinetic movement disorders. Moving beyond the historical CAMRQ4 ataxia classification is essential for the accurate diagnosis of this profound extrapyramidal phenotype ...
Fabio Bruschi +5 more
wiley +1 more source
, 2014 Neurotoxicity refers to the direct or indirect effect of chemicals that disrupt the nervous system of humans or animals. Numerous chemicals can produce neurotoxic diseases in humans, and many more are used as experimental tools to disturb or damage the ...
Brust +15 more
core +2 more sources
Distribution of choline acetyltransferase (ChAT) immunoreactivity in the brain of the teleost cyprinus carpio [PDF]
, 2018 Cholinergic systems play a role in basic cerebral functions and its dysfunction is associated with deficit in neurodegenerative disease. Mechanisms involved in human brain diseases, are often approached by using fish models, especially cyprinids, given ...
Casini, Arianna +3 more
core +2 more sources
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies [PDF]
, 2017 Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. The gene APTX, which encodes aprataxin, has been identified recently.
Beis, Jean‐Marie +14 more
core
Cerebellar Atrophy in Congenital Fibrosis of the Extraocular Muscles Type 1 [PDF]
, 2012 We described a family with a molecularly confirmed form of CFEOM1 and a late-onset cerebellar syndrome. Brain MRI showed vermis atrophy in two older family members, who also manifested gait impairment, whereas both neurological examination and ...
Alessandra Tessa +8 more
core +1 more source
STRUCTURE OF CONGENITAL AND HEREDITARY EYE DISEASES IN CHILDREN AND MEASURES OF ITS PREVENTION
Ukrainian Scientific Medical Youth Journal, 2016 Hereditary and congenital eye disease compose 60% to 90% of all causes of disability due to reduced visual acuity in children. The treatment is ineffective and prevention methods requires significant improvement. The purpose of the study was to determine
A. Savina, O. Vitovska
doaj
Aerospace medicine and biology. A continuing bibliography (supplement 231) [PDF]
This bibliography lists 284 reports, articles, and other documents introduced into the NASA scientific and technical information system in March ...
core +1 more source
Die isolierte Abduzensparese - eine retrospektive Studie an 165 Patienten [PDF]
, 1989 In einer retrospektiven Studie wurden die Krankengeschichten von 165 Patienten mit dem Leitsymptom Abduzensparese ausgewertet. Die Parese fand sich links (52%) häufiger als rechts (38%), in 10% war sie beidseitig. Bei 49 Kranken lag eine vaskuläre Genese
Berlit, P. +2 more
core +1 more source
Communications Biophysics [PDF]
, 1965 Contains a summary of research publications and reports on four research projects.National Science Foundation (Grant GP-2495)National Institutes of Health (Grant MH-04737-04)National Aeronautics and Space Administration (Grant NsG ...
Barlow, J. S. +6 more
core
Bilateral thalamic stroke due to occlusion of the artery of Percheron in a patient with patent foramen ovale: a case report [PDF]
, 2009 Introduction Bilateral thalamic infarcts are rare presentations of stroke. They are the result of a complex combination of risk factors and a predisposing vessel distribution.
Raúl López-Serna +2 more
core +2 more sources