Results 101 to 110 of about 9,115 (202)

Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant. [PDF]

Neuromuscul Disord, 2018
Bacalhau M, Simões M, Rocha MC, Hardy SA, Vincent AE, Durães J, Macário MC, Santos MJ, Rebelo O, Lopes C, Pratas J, Mendes C, Zuzarte M, Rego AC, Girão H, Wong LC, Taylor RW, Grazina M.   +17 more
europepmc   +1 more source

A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. [PDF]

Mol Genet Metab Rep, 2016
Filosto M, Lanzi G, Nesti C, Vielmi V, Marchina E, Galvagni A, Giliani S, Santorelli FM, Padovani A.   +8 more
europepmc   +1 more source

Late-Onset Development of Eyelid Ptosis in Chronic Progressive External Ophthalmoplegia: A 30-Year Follow-up. [PDF]

Neuroophthalmology, 2016
Murdock J, Thyparampil PJ, Yen MT.
europepmc   +1 more source

Das Kearns-Sayre-Syndrom. [PDF]

, 1980
Dobiasch, H., Krause, Klaus-Henning
core  

Chronic progressive external ophthalmoplegia.

A.M.A. archives of neurology and psychiatry, 2003
G A, SCHWARZ, C N, LIU
openaire   +3 more sources

Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. [PDF]

PLoS One, 2013
Yu-Wai-Man C, Smith FE, Firbank MJ, Guthrie G, Guthrie S, Gorman GS, Taylor RW, Turnbull DM, Griffiths PG, Blamire AM, Chinnery PF, Yu-Wai-Man P.   +11 more
europepmc   +1 more source

Mitochondriopathien [PDF]

, 1993
Beck, A., Damian, M. S., Gold, R., Janetzky, B., Klopstock, Thomas, Maas, J., Naumann, M., Reichmann, Heinz, Seibel, P.   +8 more
core   +1 more source

RRM2B-Associated Chronic Progressive External Ophthalmoplegia: A Case Report and Systematic Review of Literature

Kamar Abdullahi, Mikayla K. Baker, Erik van Kuijk, Michael Lee, Georgios Manousakis, Hossein Nazari   +5 more
semanticscholar   +1 more source

Paralytic Exophthalmos in Chronic Progressive External Ophthalmoplegia

Internal Medicine, 2012
Kengo, Maeda, Ryo, Idehara
openaire   +3 more sources

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. [PDF]

Brain, 2014
Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF.   +32 more
europepmc   +1 more source