Results 121 to 130 of about 81,181 (312)

Epilepsy Phenotype and EEG Finding of Rhythmic High‐Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinate dehydrogenase (SDH) serves a dual function as complex II of the electron transport chain and an enzyme of the tricarboxylic acid cycle. Pathogenic variants in subunits of SDH result in diverse clinical presentations, including typically autosomal recessive neurodegenerative disorders. Biallelic variants in the SDHA subunit most often
Aaron B. Bowen, Chiadika Nwanze, Cesar Alves, Lance Rodan, Anna Lecticia Pinto, Melissa A. Walker, Irina Anselm, Phillip L. Pearl   +7 more
wiley   +1 more source

A Deep-Learning Model for 3d Nystagmus Detection and its Primary Application

, 2022
Wen Lu, Zhuangzhuang Li, Yini Li, Jie Li, Zhengnong Chen, Yanmei Feng, Hui Wang, Qiong Luo, Yiqing Wang, Jun Pan, Lingyun Gu, Dongzhzen Yu, Yudong Zhang, haibo shi, Shankai Yin   +14 more
openalex   +1 more source

Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2‐ and HINT1‐Related Disease

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims Differentiating hereditary axonal polyneuropathies caused by distinct gene variants remains a clinical challenge. This comparative case study of DNAJB2‐ and HINT1‐related neuropathies aimed to broaden the phenotypic spectrum associated with these genes and to explore non‐motor symptoms and quality of life (QoL) in affected ...
Bogdan Bjelica, Corinna Hendrich, Sandra von Hardenberg, Milica Vukojevic, Sonja Körner, Thomas Gschwendtberger, Aiden Haghikia, Stojan Peric, Susanne Petri   +8 more
wiley   +1 more source

Two devices for analysis of nystagmus [PDF]

Electromechanical devices for measuring vestibular ...
Guedry, F. E., Jr., Turnipseed, G. T.
core   +1 more source

Irritative Nystagmus Induced by Intratympanic Injection of Potassium Chloride in Mice.

, 2023
Shotaro Harada, Takao Imai, Takefumi Kamakura, Hidenori Inohara, Shoichi Shimada   +4 more
openalex   +2 more sources

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, Michael Zech, Ulrich A. Schatz, Miriam Adamovičová, Matias Wagner, Elisabeth Graf, Riccardo Berutti, Heike Weigand, Robert Jech, Thomas Meitinger, Juliane Winkelmann, Melanie Brugger   +11 more
wiley   +1 more source

Influence of labyrinth orientation relative to gravity on responses elicited by stimulation of the horizontal semicircular canals [PDF]

Gravity labyrinth orientation influence on responses from stimulation of horizontal semicircular ...
Correia, M. J., Guedry, F. E., Jr.
core   +1 more source

GAD antibodies can signal downbeat nystagmus [PDF]

, 2003

openalex   +1 more source

A novel maneuver for diagnosis and treatment of torsional-vertical down beating positioning nystagmus: anterior canal and apogeotropic posterior canal BPPV

, 2022
Octavio Garaycochea, Nicolás Pérez‐Fernández, Raquel Manrique‐Huarte   +2 more
openalex   +1 more source

Teaching Video NeuroImage: Unilateral Gaze Palsy With Nystagmus and Facial Weakness [PDF]

, 2022
Laura Donaldson, Ivan Radovanovic, Edward Margolin   +2 more
openalex   +1 more source