Results 101 to 110 of about 19,794 (219)
Incapacitating hypersensitivity to one's own body sounds due to a dehiscence of bone overlying the superior semicircular canal. A case report [PDF]
, 2018 We present a case study of a 49-year-old patient with an 8-year history of hypersensitivity to sound produced by intrinsic but not extrinsic sources. Findings that indicated an organic problem were: a supranormal bone conduction threshold of −25 to −15dB
Allum, John +3 more
core
Neuromotor changes in postural control following bed rest
The Journal of Physiology, EarlyView.Abstract figure legend Prolonged bed rest (BR) (both horizontal and head‐down tilt) leads to neuromotor adaptations that impair postural control. Structural and functional changes occur in the brain, including a reduction in grey and white matter volume, alterations in functional connectivity, and shifts in cerebrospinal fluid distribution.
Ramona Ritzmann +4 more
wiley +1 more source
Visual modulation of vestibular‐evoked balance response disturbed by posterior cortical atrophy
The Journal of Physiology, EarlyView.Abstract figure legend Summary of key findings. (A) Effect of vision on balance responses to vestibular stimulation in controls. Mean galvanic vestibular stimulation (GVS)‐evoked response time‐course is shown without and with vision, illustrating how visual input ‘dampens’ the balance response.
Dilek Ocal +8 more
wiley +1 more source
Cryptogenic stroke as a very early manifestation of pancreatic neoplasm [PDF]
, 2009 We present two cases of middle-aged women who sustained definite cerebrovascular infarctions without predisposing risk factors. Work-up did not reveal any underlying etiology.
Arabi, Maher +2 more
core
Nippon Jibiinkoka Gakkai Kaiho, 1997 Although it has been speculated that benign paroxysmal positional vertigo (BPPV) derives from the utricle or posterior semicircular canal, the origin of BPPV is still controversial. In this study, we investigated the role of the utricle and semicircular canals (especially the vertical semicircular canal) relative to BPPV by three-dimensional analysis ...
openaire +2 more sources
The Journal of Physiology, EarlyView.Abstract figure legend Schematic illustrating that visually driven optokinetic responses (OKR) and vestibularly driven vestibulo‐ocular reflexes (VOR) share a common timing mechanism composed of the cerebellum and the velocity storage mechanism (VSM). Predictive OKR (pOKR), characterized by predictive deceleration (brown arrow)—a gradual slowing of eye
Toshimi Yamanaka, Yutaka Hirata
wiley +1 more source
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 511-517, February 2026.ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 459-467, February 2026.ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz +12 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen +10 more
wiley +1 more source
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 521-530, February 2026.ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil +8 more
wiley +1 more source