Results 61 to 70 of about 17,258 (175)
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 +7 more
wiley +1 more source
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 +8 more
wiley +1 more source
Nystagmus – eye joke or pathological sign (case of voluntary nystagmus) [PDF]
Child Neurology, 2019 Marta Zawadzka +6 more
openaire +1 more source
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
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
The prevalence of strabismus types in strabismic Iranian patients
Clinical Optometry, 2018 Masoud Khorrami-Nejad,1 Mohamad Reza Akbari,2 Bahram Khosravi1 1Department of Optometry, Faculty of Rehabilitation, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 2Eye Research Center, Farabi Eye Hospital, Tehran University of Medical ...
Khorrami-Nejad M, Akbari MR, Khosravi B
doaj
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
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 +6 more
wiley +1 more source