Results 131 to 140 of about 9,115 (202)

Patterns and causes of supranuclear vertical gaze palsy: A retrospective, single-institutional study in 113 patients. [PDF]

Clin Park Relat Disord
Kern D, Raber K, Wünsch G, Schwingenschuh P.   +3 more
europepmc   +1 more source

Intracellular amyloidosis in peripheral nerve and skeletal muscle. [PDF]

J Neuropathol Exp Neurol
Grafham GK, Mak G, Grant S, Murphy A, Baker SK, Tarnopolsky M, Lu JQ.   +6 more
europepmc   +1 more source

CANOMAD mimicking anti-MAG/SGPG neuropathy: A case highlighting the diagnostic specificity of ophthalmoplegia and cold agglutination. [PDF]

eNeurologicalSci
Funasaka H, Hanazono A, Abe K, Yamashita T, Shimada H, Yasuda K, Takahashi Y, Sanpei Y, Sugawara M.   +8 more
europepmc   +1 more source

Retinal multimodal-imaging and functional tests in a mitochondrial disease with focal and segmental glomerulosclerosis. [PDF]

Int J Ophthalmol
Liu XH, Shen X, Zhong YS.
europepmc   +1 more source

The Clinical Burden of Inherited Neurometabolic Disorders in Adults-A Territorial Care Approach. [PDF]

J Clin Med
Orsucci D, Caldarazzo Ienco E, Giuntini M, Vista M.   +3 more
europepmc   +1 more source

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Chronic progressive external ophthalmoplegia

Acta Ophthalmologica, 2022
AbstractChronic progressive external ophthalmoplegia (CPEO) is an array of genetic condition which causes progressive paralysis of the extraocular muscles and lid ptosis. CPEO can occur in isolation or in association with other systemic features (CPEO‐plus) including myopathy, dysarthria, ataxia, and parkinsonism.
R. Karanjia
openaire   +2 more sources

CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Brain, 1975
The clinical features and investigative findings of 50 patients with chronic progressive external ophthalmoplegia (CPEO) were analysed. The group was found to be clinically, genetically and histologically heterogeneous. With the possible exception of patients with "ophthalmoplegia plus," namely those who in addition to muscular weakness had evidence of
G, Danta, R C, Hilton, P G, Lynch
openaire   +4 more sources

Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene

Clinical Genetics, 2022
Chronic progressive external ophthalmoplegia (CPEO) plus syndrome due to pathogenic biallelic variants in TOP3A gene has been described in only one single patient.
A. Llauradó, E. Rovira-Moreno, M. Codina-Solà, E. Martínez-Sáez, M. Salvadó, D. Sánchez-Tejerina, J. Sotoca, V. López-Diego, J. L. Restrepo-Vera, E. García-Arumí, R. Juntas-Morales   +10 more
semanticscholar   +1 more source

Chronic progressive external ophthalmoplegia

Current Neurology and Neuroscience Reports, 2002
Chronic progressive external ophthalmoplegia (CPEO) is a descriptive term for a heterogenous group of disorders characterized by chronic, progressive, bilateral, and usually symmetric ocular motility deficit and ptosis. Significant pain, proptosis, or pupil involvement are not features of CPEO and should prompt evaluation for alternative etiologies ...
Andrew G, Lee, Paul W, Brazis
openaire   +2 more sources