Results 71 to 80 of about 17,947 (227)
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
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Gaze-evoked and rebound nystagmus
When trying to distinguish pathologic gaze-evoked nystagmus from physiologic end point nystagmus, the following features (pathologic gaze-evoked nystagmus (GEN) is seen in this patient with cerebellar hypoplasia) should be sought: 1) GEN persists over ...
Daniel R. Gold, DO
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Walsh & Hoyt: Voluntary Saccadic Oscillations or Voluntary Nystagmus
, 2005 Some normal subjects can voluntarily induce saccadic oscillations, usually by converging; this party trick has been called voluntary nystagmus but is really psychogenic flutter. Voluntary nystagmus is found in about 58% of the population and may occur as
John R. Leigh, MD; Janet C. Rucker, 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 +10 more
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This is a 50-yo-man who presented for dizziness and imbalance. His exam demonstrated choppy smooth pursuit and VOR suppression as well as mild gait ataxia.
Daniel R. Gold, DO
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, 2016 : 30-yo-man with the subacute onset of a cerebellar syndrome. After extensive evaluation and progression, it was thought that this represented an autoimmune process and there was some improvement with immunosuppression.
Daniel R. Gold, DO
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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 +27 more
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Patient outcomes in KCNQ2 developmental and epileptic encephalopathy
Developmental Medicine &Child Neurology, EarlyView.Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine +9 more
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Equine Veterinary Education, EarlyView.Summary This case report is of educational value and contributes to the literature because it describes a unique death after anaesthesia due to cardiac tamponade from a rare cardiac neoplasm. In trying to diagnose the origin of chronic sinusitis, a geriatric mule mare was anaesthetised and during recovery, died acutely.
A. Carroll, J. Quandt, S. Dantino
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The Incidence of Rebound Nystagmus in Normal Subjects Under Different Physiologic Conditions
, 2012 Although originally thought to be always pathologic, rebound nystagmus (RN) has more recently been reported to be present in normal subjects when recorded in the dark.
Michael L. Rosenberg; Karuna Bitra; Sonal Bhatt; Viral Patel; Liang Huang
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