Results 41 to 50 of about 18,047 (248)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Walsh & Hoyt: Dissociated Nystagmus [PDF]
, 2005 A special type of pathologic gaze-evoked nystagmus is dissociated or ‘‘ataxic\u27\u27 ...
John R. Leigh, MD; Janet C. Rucker, MD
core
Chinese Journal of Contemporary Neurology and Neurosurgery, 2020 DOI:10.3969/j.issn.1672⁃6731.2020.10 ...
Jia⁃lüe HUA
doaj
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Magnetic Oculomotor Prosthetics for Acquired Nystagmus [PDF]
, 2017 PURPOSE: Acquired nystagmus, a highly symptomatic consequence of damage to the substrates of oculomotor control, often is resistant to pharmacotherapy. Although heterogeneous in its neural cause, its expression is unified at the effector-the eye muscles ...
David H. Verity +19 more
core +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
Chiari I Malformation: Review and Update of Current Treatment Options
Clinical Anatomy, EarlyView.ABSTRACT The pathophysiology of Chiari malformation type I (CM‐I) is complex, involving structural abnormalities at the craniovertebral junction that result in herniation of the cerebellar tonsils through the foramen magnum. In this study, we aim to present and evaluate current treatment options for CM‐I, with a focus on evidence‐based clinical ...
Jordan J. Lo +11 more
wiley +1 more source
Walsh & Hoyt: Gaze-Evoked Nystagmus [PDF]
, 2005 Nystagmus that is induced by turning the eye to an eccentric position in the orbit is called gaze-evoked nystagmus. It is the most common form of nystagmus encountered in clinical practice.
John R. Leigh, MD; Janet C. Rucker, MD
core
Epilepsia Open, EarlyView.Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris +4 more
wiley +1 more source
Walsh & Hoyt: Optokinetic Nystagmus [PDF]
, 2005 It is important to realize that not all nystagmus is ...
John R. Leigh, MD; Janet C. Rucker, MD
core