Results 71 to 80 of about 11,610 (293)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang +8 more
wiley +1 more source
Test Your Knowledge - Disorders of Ocular Motility, Alignment, Pupils, and Lids - Case 35 [PDF]
Test your knowledge of disorders of ocular motility, alignment, pupils, and ...
Jonathan D. Trobe, MD
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Disorders of Ocular Motility in Childhood [PDF]
, 1988 Ocular motility disturbances In childhood encompass a somewhat broader range of diagnostic posslblities than similar disturbances seen In adults.
Charles G. Maitland, MD
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Periodic Alternating Nystagmus Due to a Chiari Malformation - The Role of the Vestibulocerebellum in Ocular Motor Function [PDF]
, 2023 We describe a 53-year-old woman presenting with oscillopsia and ocular motor abnormalities due to a Chiari I malformation, in the absence of headaches. The vestibulocerebellum can be thought of as two functional units: 1) flocculus/paraflocculus (tonsil)
Claire Allen; Daniel Gold
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Clinical Validation of Plasma p‐217tau in Neurological Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi +13 more
wiley +1 more source
Cerebral Visual Impairment and Dysgenesis of Corpus Callosum in Multidisabled Children Aged 1 to 9 Years Old [PDF]
Applied Medical Informatics, 2009 Aims: To emphasize the functional vision characteristics in visually impaired multiple disabled children (MDVI) aged 2 to 9 years old related to brain damages on magnetic resonance imaging in different cortical and subcortical areas and in the corpus ...
Roxana CZIKER +5 more
doaj
Evaluation of corneal transplantation [PDF]
, 1997 Editorial / comment on corneal ...
Coster, Douglas John
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A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Recurrent isolated oculomotor nerve palsy caused by schwannoma in a pediatric patient
Indian Journal of Ophthalmology, 2018 Isolated schwannomas of motor nerves to extraocular muscles are uncommon. In addition, most previous studies on oculomotor nerve schwannoma discuss adult patients, and pediatric cases are rare.
Donghun Lee, Won Jae Kim, Myung Mi Kim
doaj +1 more source