Results 131 to 140 of about 50,007 (274)

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, EarlyView.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Congenital Nystagmus [PDF]

, 1986
Patient with congenital nystagmus (no audio)IC-D7bii-congenital-nystagmus-vs-peripheral-nystagmus; IC-D7cxii-infantile-nystagmus ...
Kathleen B. Digre, MD
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USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, EarlyView.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, EarlyView.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Significance of Systemic Immune‐Inflammation and Inflammatory Response Indices in Vestibular Neuritis

Clinical Otolaryngology, EarlyView.
ABSTRACT Introduction This study investigated the relationship between vestibular neuritis and various systemic inflammatory indices—namely, neutrophil‐to‐lymphocyte ratio (NLR), platelet‐to‐lymphocyte ratio (PLR), monocyte‐to‐lymphocyte ratio (MLR), systemic immune‐inflammation index (SII), and systemic inflammation response index (SIRI) and the ...
Tuğba Tulacı, Mustafa Utku Akbaş, Hasan Çanakçı, Tarık Yetişir, Kamil Gökçe Tulacı, Haşmet Yazıcı, Gulendam Kayıkçı, Omer Hizli   +7 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

Static Otolith Signals Reflect Clinical Course in Acute Vestibular Neuritis

Clinical Otolaryngology, EarlyView.
ABSTRACT Objectives To investigate how static and dynamic utricular functions differentially correlate with dizziness symptoms and quality of life (QoL) recovery in patients with acute vestibular neuritis (VN). Design Prospective observational study with 1‐week and 1‐month follow‐up assessments. Setting Tertiary referral centre. Participants Twenty‐six
Seo‐Young Choi, Jae‐Hwan Choi, Hyun Sung Kim, Kwang‐Dong Choi   +3 more
wiley   +1 more source

Nocturnal Hypoxemia Burden Correlates With Vestibular Dysfunction in Obstructive Sleep Apnea

Clinical Otolaryngology, EarlyView.
ABSTRACT Introduction Obstructive sleep apnea (OSA) is a potential contributor to vestibular dysfunction, though specific correlating parameters remain unclear. This study aimed to determine whether hypoxemia severity indices correlate quantitatively with caloric slow‐phase eye velocity (SPV), a marker of vestibular function. Methods In a retrospective
Dachan Kim, Seong Hoon Bae, Hyung‐Ju Cho   +2 more
wiley   +1 more source

Nystagmus [PDF]

, 1980
Nystagmus is a biphasic (to and fro) ocular oscillation in which the two phases have approximately equal amplitudes. Sparked by significant advances in our knowledge of ocular movement physiology, the nystagmus literature has recently burgeoned.
Robert B. Daroff
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