Results 41 to 50 of about 108,556 (256)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
, 2010 Positional nystagmus (PN) is a type of nystagmus that occurs as a result of the head or the head and body being moved from one position to another and then statically maintained in the critical position.
Svandelkova, Irena
core +1 more source
Eletronistagmografia versus videonistagmografia Electronystagmography versus videonystagmography
Brazilian Journal of Otorhinolaryngology, 2010 A eletronistagmografia (ENG) e a videonistagmografia (VNG) são métodos de registro dos movimentos oculares, empregados na avaliação dos distúrbios do equilíbrio corporal.
Maurício Malavasi Ganança +2 more
doaj +1 more source
Pathological and Non-pathological Irregularities of Nystagmus
Collegium antropologicum, 2015 Irregularities of nystagmus can be found almost in every electronystagmographic record, but only a few are pathological. In this investigation, the authors try to define the border line between pathological and nonpathological irregularities of nystagmus and according to this measure the diagnostic use of findings of irregularities of nystagmus.
Starčević, Radan +2 more
openaire +5 more sources
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source
Bulbar infarction with upbeat nystagmus as the main sign: one case report
Chinese Journal of Contemporary Neurology and Neurosurgery, 2020 DOI:10.3969/j.issn.1672⁃6731.2020.11 ...
Lei ZHAO +5 more
doaj
Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert +4 more
wiley +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2020 DOI:10.3969/j.issn.1672⁃6731.2020.10 ...
Jia⁃lüe HUA
doaj
Chiari I Malformation: Review and Update of Current Treatment Options
Clinical Anatomy, EarlyView.ABSTRACT The pathophysiology of Chiari malformation type I (CM‐I) is complex, involving structural abnormalities at the craniovertebral junction that result in herniation of the cerebellar tonsils through the foramen magnum. In this study, we aim to present and evaluate current treatment options for CM‐I, with a focus on evidence‐based clinical ...
Jordan J. Lo +11 more
wiley +1 more source
The relationship between motor proficiency, bilateral vestibular hypofunction and dynamic visual acuity in children with congenital or early acquired sensorineural hearing loss [PDF]
, 2010 Includes bibliographical references (leaves 105-115).The functional integrity of the vestibular system in children is not often tested. Due to the close relationship between the cochlea and the peripheral vestibular system, the function of the vestibular
Geldenhuys, Wilhelmien
core +1 more source