Results 41 to 50 of about 11,881 (273)
It is pointed out bу Kurz J. 1950 that monocular nystagmus is а rаrе pathologic phenomenon. К. F. Voitovich claims that till 1959 about 100 observations have been reported in the liiterature.
Hubenov, P., Koynov, R.
core +2 more sources
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel+10 more
wiley +1 more source
Eletronistagmografia versus videonistagmografia Electronystagmography versus videonystagmography
A eletronistagmografia (ENG) e a videonistagmografia (VNG) são métodos de registro dos movimentos oculares, empregados na avaliação dos distúrbios do equilíbrio corporal.
Maurício Malavasi Ganança+2 more
doaj +1 more source
A Case of Multiple Sclerosis Presenting as Eight and Half Syndrome. [PDF]
Multiple sclerosis (MS) is a chronic disease characterized by inflammation, demyelination, gliosis (scarring), and neuronal loss; the course can be relapsing-remitting or progressive.
Kaushik, M+4 more
core
Management of labyrinthine fistula in chronic otitis with cholesteatoma: case series. [PDF]
Labyrinthine fistula is a complication of ear cholesteatoma that increase the risk of sensorineural hearing loss. The management of the fistula must be done contextually with mastoidectomy by: leaving cholesteatoma matrix over the fistula, or remove the ...
Bennici, E.+4 more
core +1 more source
HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer+52 more
wiley +1 more source
Characteristics and mechanisms of periodic alternating nystagmus
Periodic alternating nystagmus (PAN) is a rare, congenital or acquired spontaneous nystagmus. Understanding the characteristics and mechanism of different types of PAN contributes to the recognition of this disease and the level of diagnosis and ...
Fei LI, Gang-gang CHEN
doaj
The Relationship of Motility Problems to Reading Problems [PDF]
In summary, the ophthalmologist\u27s role in caring for dyslectic children is simply caring for ocular problems. It is rather easy to separate the ocular defects from the nebulous concepts of dyslexia or learning disability.
McNeer, Keith
core +1 more source
Mutations in a thiaminetransporter gene and Wernicke's-like encephalopathy [PDF]
journal ...
Kono, Satoshi+5 more
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Pathological and non-pathological irregularities of nystagmus.
Irregularities of nystagmus can be found almost in every electronystagmographic record, but only a few are pathological. In this investigation, the authors try to define the border line between pathological and nonpathological irregularities of nystagmus and according to this measure the diagnostic use of findings of irregularities of nystagmus.
Starčević, Radan+2 more
openaire +3 more sources