Results 151 to 160 of about 74,410 (305)

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, Volume 108, Issue 3, Page 266-278, September 2025.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar   +15 more
wiley   +1 more source

The quick component of nystagmus

, 1939
Anna McIntyre
openalex   +2 more sources

MINER'S NYSTAGMUS: SUGGESTIONS FOR ITS PREVENTION [PDF]

, 1920
Dwight L. Anderson
openalex   +1 more source

Neural Plasticity and Hearing‐Speech Development in Children with Auditory Brainstem Implants for Congenital Hearing Loss Due to Severe Inner Ear Malformation

Advanced Science, Volume 12, Issue 29, August 7, 2025.
Data from a prospective cohort with 112 auditory brainstem implant users are analyzed. Younger age at implantation (<3 years), less severe inner‐ear malformation (common cavity, cochlear aplasia, and hypoplasia), and more intraoperative eABR evoked electrodes (≥60%) are associated with better hearing and speech outcomes.
Yu Zhang, Yongchuan Chai, Yiwen Zhang, Huan Jia, Zhaoyan Wang, Zhihua Zhang, Zhili Wang, Jie Chen, Xue Wang, Yun Li, Ying Chen, Hao Wu   +11 more
wiley   +1 more source

MINERS' NYSTAGMUS [PDF]

BMJ, 1923
openaire   +7 more sources

A Peculiar Form of Nystagmus (Cheyne-Stokes Nystagmus) with a Case [PDF]

, 1892
W. N. Bullard, A. H. WENTWORTH
openalex   +1 more source

Joubert Syndrome: A Rare Case of Two Sudanese Sisters With Neurodevelopmental Delays and Diagnostic Challenges

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT Joubert Syndrome's rarity and diagnostic complexity, especially in Sudan, pose significant challenges in low‐resource settings. Sibling cases with neurodevelopmental delays and MRI‐confirmed molar tooth sign highlight the urgent need for heightened clinical suspicion, accessible neuroimaging, and genetic counseling to address underdiagnosis in
Ahmed Alshafei Elmahi Ahmed, Mehad Mortada BadrAlden Ahmed, Aisha Gameraldeen Abdalrhim Ibrahim, Arafa Mubarak Abotalib Aref, Thowiba Mohammed Abdalla Saidahmed, Osman Elshazali Osman Abd Elaziz, Zahra Abdalla Ahmed Neel, Mohammed Musa Abozaid Alkarar, Tarig Mohamed Nourallah Altegani, Amjed Abdu Ali Mohammed, Mohammed Hammad Jaber Amin   +10 more
wiley   +1 more source

CENTERS FOR THERMIC NYSTAGMUS [PDF]

, 1920
L. Bard
openalex   +1 more source

Short Stature and Developmental Delay Associated With a Novel Frame‐Shift Mutation in ZNF292: Case Report and Literature Review

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT Pathogenic mutations in the ZNF292 gene are a significant genetic cause of Intellectual Developmental Disorder (IDD) in individuals, manifesting with a spectrum of clinical features including mild to severe intellectual impairment, speech delay, and co‐occurring autism spectrum disorder (ASD).
Li Dongxue, Yao Ruen, Yu Ying, Chen Liting, Wang Jie, Lu Chunjiao, Li Wei, Chen Rikun, Li Cuiyun   +8 more
wiley   +1 more source

KCNC1‐Related Progressive Myoclonus Epilepsy: A Case Report

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT KCNC1‐related progressive myoclonus epilepsy (EPM7) is a rare disorder causing seizures, myoclonus, and ataxia. The first reported Iranian case highlights the role of genetic testing in diagnosis and potential future treatments, including gene therapy and novel pharmacological approaches.
Mehri Salari, Sara Sadeghzadeh, Masoud Etemadifar   +2 more
wiley   +1 more source