Results 151 to 160 of about 71,039 (272)

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
Whole‐exome sequencing in three Iranian families identified two novel KCNJ10 variants (p.A118T, p.Y323H) associated with seizures, ataxia, developmental delay and hearing loss without renal involvement. ABSTRACT Background Mutations in the KCNJ10 gene cause SeSAME syndrome, an autosomal recessive disorder characterised by seizures, sensorineural ...
Shayan Shakeri, Sanaz Mohammadi, Forough Sadeghipour, Marjan Masoudi, Mona Entezam   +4 more
wiley   +1 more source

Differentiating Atypical BPPV from Central Positional Vertigo: A Narrative Review. [PDF]

NeuroSci
Sideris G, Korres G, Lazarou I, Vasileiou E, Male A, Kaski D.   +5 more
europepmc   +1 more source

Safety and Tolerability of Xanthohumol in Adults With Crohn's Disease: Results of a Triple‐Masked, Randomized, Placebo‐Controlled Phase 2 Trial

Molecular Nutrition &Food Research, Volume 70, Issue 6, 29 March 2026.
Adults with active Crohn's disease (n = 20) received 24 mg/day of xanthohumol (XN), a bioactive compound derived from Humulus lupulus (hops), for 8 weeks. The study evaluated safety and tolerability through clinical laboratory measures, adverse events, vital signs, anthropometrics, health−related quality of life, and adherence.
Ryan Bradley, Carina A. Staab, Paige E. Jamieson, Blake O. Langley, Thomas O. Metz, Jan F. Stevens   +5 more
wiley   +1 more source

Unidirectional Palsy of Torsional Saccades in Ataxia Associated with Anti-GAD Antibody. [PDF]

Cerebellum
Kwon H, Kim HJ, Choi JY, Kim JS.
europepmc   +1 more source

Perception of the Body in Space: Mechanisms [PDF]

The principal topic is the perception of body orientation and motion in space and the extent to which these perceptual abstraction can be related directly to the knowledge of sensory mechanisms, particularly for the vestibular apparatus.
Young, Laurence R.
core   +1 more source

Prolonged Anti‐Zic4 Antibody–Positive Cerebellar Degeneration Following COVID‐19 Infection

Neuropsychopharmacology Reports, Volume 46, Issue 1, March 2026.
Serial MRI and SPECT revealed progressive cerebellar atrophy and worsening hypoperfusion over 2 years, despite partial clinical stabilization. These findings highlight radiological progression that exceeds symptom severity in post‐COVID anti‐Zic4 antibody–associated cerebellar degeneration.
Risa Suzuki‐Yamamoto, Asuka Nakajima, Tsuyoshi Furuya, Takahiro Koinuma, Atsuhito Fuse, Hiroto Eguchi, Yasushi Shimo   +6 more
wiley   +1 more source

Bedside Approach to Acute Vertigo with Spontaneous Horizontal Nystagmus: The Role of Simultaneous Ice-Water Test Stimulation and Its Correlation with the HINTS Protocol in Differentiating Peripheral and Central Etiologies. [PDF]

Audiol Res
Califano L, Latorre C, Melillo MG, Cangiano I, Manna G, Coppola MG, Teggi R.   +6 more
europepmc   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, Volume 109, Issue 3, Page 529-538, March 2026.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Possible Vestibulocerebellar Control of Posterior Canal Afferents: Implications From Central Positional Vertigo and Nystagmus. [PDF]

J Clin Neurol
Kim H, Choi EH, Choi JY, Kim JS.
europepmc   +1 more source

Visual evaluation of nystagmus intensity in points to diagnose vestibular dysfunction [PDF]

The amplitude of nystagmus multiplied by its frequency gives a value commensurate to the velocity of slow phase. If the amplitude and the frequency during the visual observation are expressed in relative units (e.g., in points ranging from 1 to 3) the ...
Levashov, M. M.
core   +1 more source