Results 131 to 140 of about 81,181 (312)

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

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, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

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, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

CONGENITAL NYSTAGMUS [PDF]

, 1925
T. S. Evans
openalex   +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, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Stratification of patients with Menière’s disease based on eye movement videos recorded from the beginning of vertigo attacks and contrast-enhanced MRI findings

Frontiers in Neurology
PurposeDiagnosis of Menière’s disease (MD) relies on subjective factors and the patients diagnosed with MD may have heterogeneous pathophysiologies. This study aims to stratify MD patients using two objective data, nystagmus videos and contrast-enhanced ...
Yuya Ueno, Takao Imai, Kayoko Higashi-Shingai, Yumi Ohta, Takashi Sato, Takefumi Kamakura, Yoshiyuki Ozono, Hidenori Inohara   +7 more
doaj   +1 more source

Methanol Induced Optic Neuropathy: An Unusual Case With the Absence of Classic Symptoms

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Methanol toxicity is an emergency that doctors come across all around the globe, requiring immediate treatment or it can cause life‐threatening conditions affecting the central nervous system, causing toxic optic neuropathy and metabolic acidosis.
Humza Tariq, Ali Gohar, Muhammad Husnain Ahmad, Muhammad Huzaifa Ameer, Masab Ali, Asad Ullah Ansari, Rehan Naseer Ahmad   +6 more
wiley   +1 more source

EXPERIMENTAL STUDIES ON THE OTOLITHIC FUNCTIOH IN THE CALORIC NYSTAGMUS

, 1961
Kiyoko Okubo
openalex   +2 more sources

MRI and Implant Safety at Low‐Field and Ultralow‐Field Strengths

Journal of Magnetic Resonance Imaging, Volume 63, Issue 2, Page 364-377, February 2026.
ABSTRACT Despite its unequivocal value in radiological diagnosis, access to conventional high‐field MRI systems remains extremely uneven across the world. Access is particularly limited in underfunded and remote settings, due to the high cost and infrastructure requirements of MRI systems.
Emre Kopanoglu, Michael Steckner, Michael N. Hoff, Adrienne E. Campbell‐Washburn, Andrew G. Webb, Scott B. Reeder, Vikas Gulani, on behalf of the ISMRM Safety Committee   +7 more
wiley   +1 more source

Targeted Next‐Generation Sequencing of the Leptin‐Melanocortin Pathway in Severe Obesity

Obesity, Volume 34, Issue 2, Page 499-511, February 2026.
ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Nathan Faccioli, Chrisitne Poitou, Mathieu Georget, Françoise Bertin, Ahlam Azar‐Kolakez, Claire Carette, Pauline Faucher, Blandine Gatta‐Cherifi, Julie Gonneau‐Lejeune, Agnès Linglart, Karine Clément, Johanne Le Beyec‐Le Bihan, Béatrice Dubern   +12 more
wiley   +1 more source

Wernicke Encephalopathy After Sleeve Gastrectomy

Annals of Internal Medicine: Clinical Cases
We present a case of Wernicke encephalopathy after sleeve gastrectomy. The patient exhibited spontaneous upbeat nystagmus and gaze-evoked nystagmus during an ophthalmologic examination, as shown in the accompanying video.
Lu Li, Jeong-Hun Shin, Kavita Sharma, Dong Wook Kim   +3 more
doaj   +1 more source