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A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH). [PDF]
Genes (Basel)Tsygankova P +7 more
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Survey of Ophthalmology, 1991
A young woman became suddenly aware of visual loss in her left eye. She was found to have optic atrophy giving chronicity to the disease process. A hypopigmented macule on her face along with neuroimaging studies suggested an inflammatory process. A biopsy of the skin lesion was compatible with sarcoidosis.
M, Wall +3 more
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A young woman became suddenly aware of visual loss in her left eye. She was found to have optic atrophy giving chronicity to the disease process. A hypopigmented macule on her face along with neuroimaging studies suggested an inflammatory process. A biopsy of the skin lesion was compatible with sarcoidosis.
M, Wall +3 more
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Pediatrics, 1964
An attempt has been made to determine the significance and outcome of optic atrophy as an apparently isolated entity in the pediatric age group. A follow-up study was made of 48 children who presented in early childhood with optic atrophy with no known cause and no obvious systemic or neurological disease. It was found that the prognosis
J F, SCHWARTZ +3 more
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An attempt has been made to determine the significance and outcome of optic atrophy as an apparently isolated entity in the pediatric age group. A follow-up study was made of 48 children who presented in early childhood with optic atrophy with no known cause and no obvious systemic or neurological disease. It was found that the prognosis
J F, SCHWARTZ +3 more
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Journal of Clinical Neuroscience, 2012
Thallium poisoning is rare and its exposure is usually suicidal, homicidal or by accidental entry into the food chain. It involves multiple systems. Alopecia and painful neuropathy are its cardinal features, others being gastrointestinal disturbances, encephalopathy, tachycardia, ataxia, hepatorenal and cardiac damage.
Sanjeev, Jha, M K, Ansari
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Thallium poisoning is rare and its exposure is usually suicidal, homicidal or by accidental entry into the food chain. It involves multiple systems. Alopecia and painful neuropathy are its cardinal features, others being gastrointestinal disturbances, encephalopathy, tachycardia, ataxia, hepatorenal and cardiac damage.
Sanjeev, Jha, M K, Ansari
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Optic Atrophy and Neurosyphilis
Annual Review of Medicine, 1971Two major recent advances in late syphilis of interest to every clinician have occurred in the past decade. These are: 1. the frequency of clinically progressive late seronegative syphilis; and 2. the presence of treponemes in patients with late syphilis despite penicillin therapy. The presence of trepo nemes in lymph nodes, despite penicillin therapy
J L, Smith, C W, Israel
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Clinical & Experimental Ophthalmology, 2000
ABSTRACT Purpose: To determine the causes, and relative incidence of the common causes, of optic nerve atrophy in children under 10 years old and to compare prevalent aetiologies with those given in previous studies. Methods: The Wilmer Information System database was searched to identify all children, diagnosed between 1987 and 1997 with optic atrophy,
A V, Mudgil, M X, Repka
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ABSTRACT Purpose: To determine the causes, and relative incidence of the common causes, of optic nerve atrophy in children under 10 years old and to compare prevalent aetiologies with those given in previous studies. Methods: The Wilmer Information System database was searched to identify all children, diagnosed between 1987 and 1997 with optic atrophy,
A V, Mudgil, M X, Repka
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American Journal of Ophthalmology, 1921
The author was able to observe nine cases of this disease affecting two generations of a family. He also reviews some of the more recent literature regarding it and inclines to the view that a low grade toxic retinitis may be the essential lesion. Read before the American Ophthalmological Society, June, 1920.
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The author was able to observe nine cases of this disease affecting two generations of a family. He also reviews some of the more recent literature regarding it and inclines to the view that a low grade toxic retinitis may be the essential lesion. Read before the American Ophthalmological Society, June, 1920.
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Archives of Ophthalmology, 1958
Congenital hereditary optic atrophy is a rare but important specific entity, which is seldom recognized by most ophthalmologists. It is distinct from Leber's hereditary optic atrophy, particularly as to its age of onset, course, relative absence of associated physical abnormalities, and pattern of hereditary transmission.
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Congenital hereditary optic atrophy is a rare but important specific entity, which is seldom recognized by most ophthalmologists. It is distinct from Leber's hereditary optic atrophy, particularly as to its age of onset, course, relative absence of associated physical abnormalities, and pattern of hereditary transmission.
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Optic Atrophy in Familial Dysautonomia
American Journal of Ophthalmology, 1986We examined three patients with classic findings of familial dysautonomia (Riley-Day syndrome) whose visual impairment was associated with optic atrophy. The presence of an optic atrophy in familial dysautonomia is indicative of central nervous system involvement, at least in these cases. Each of these patients was first noted to have visual impairment
J F, Rizzo, S, Lessell, S D, Liebman
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