Results 101 to 110 of about 9,186 (248)

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. [PDF]

, 2015
Hearing impairment is the second most prevalent clinical feature after optic atrophy in Dominant Optic Atrophy associated with mutations in the OPA1 gene.
Arslan, E, Biscaro, A, Cama, Elona, Caporali, L, Carelli, V., La Morgia, C, Liguori, R, Magnavita, V, Monteleone, A, Rossi, R, Santarelli, Rosamaria, Scimemi, Pietro, Valentino, Ml   +12 more
core   +3 more sources

Management of Ptosis in Kearns–Sayre Syndrome: A Case Report and Literature Review

Archives of Plastic Surgery
Kearns–Sayre syndrome (KSS) is a rare mitochondrial disease that affects young adults, due to a deletion of mitochondrial DNA and characterized by the triad: age of onset lower than 20 years, chronic progressive external ophthalmoplegia, and an atypical ...
Moulay O. Moustaine, Zakaria Azemour, Frarchi Mohammed, Othman Benlanda, Hicham Nassik, Mehdi Karkouri   +5 more
doaj   +1 more source

Mitochondrial myopathy with chronic progressive external ophthalmoplegia

Ceylon Medical Journal, 2011
(Index words: Electron microscopy, EMG, ECG, clinical features) DOI: http://dx.doi.org/10.4038/cmj.v47i2.3460 CMJ 2002; 47(2): 69 ...
Harsha, Gunasekera, Udaya, Ranawaka, Jagath, Wijesekera   +2 more
openaire   +2 more sources

Posterior reversible encephalopathy as the first manifestation of Bickerstaff’s brainstem encephalitis [PDF]

, 2016
BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) has been associated with Guillain-Barre syndrome in rare cases. Here we report a patient in whom PRES was the presenting manifestation of Bickerstaff’s brainstem encephalitis.
Pei-Ru Chen, Shih-Pin Chen
core   +1 more source

Metabolic syndromes and neural crest development

Journal of Biological Research, 2011
Aim of this study is to investigate for the possible connection between abnormal neural crest cell (NCC) development and NCC-derived abnormal facial and cerebral structures in 3 children with pyruvate-dehydrogenase (PDH) and in 10 cases with oxidative ...
A. Berio
doaj   +1 more source

Mitochondrial neurogastrointestinal encephalomyopathy caused by thymidine phosphorylase enzyme deficiency: From pathogenesis to emerging therapeutic options [PDF]

, 2017
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a progressive metabolic disorder caused by thymidine phosphorylase (TP) enzyme deficiency.
Coo, I.F.M. (René) de, Smitt, P.S., Til, N.P. (Niek) van, van Gisbergen, M.W., Yadak, R.M.A. (Rana)   +4 more
core   +3 more sources

Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report

BMC Musculoskeletal Disorders, 2017
Background Pure exercise intolerance associated with exclusive affection of skeletal muscle is a very rare phenotype of patients with mitochondrial myopathy.
Patrick Soldath, Karen Lindhardt Madsen, Astrid Emilie Buch, Morten Duno, Flemming Wibrand, John Vissing   +5 more
doaj   +1 more source

Chronic Progressive External Ophthalmoplegia [PDF]

Chronic progressive external ophthalmoplegia is an inherited or sporadic form of dystrophy that preferentially affects the extraocular muscles of the eye.
Pashaee, MPH, BS, Bahram
core   +1 more source

Diplopia and eye movement disorders.

, 2004
Published ...
Danchaivijitr, C, Kennard, C
core   +2 more sources

etiological Pattern o FBlePHaroPtosis among Patients Presenting in teacHing HosPital

Journal of Nepal Medical Association, 2006
The purpose of this study was to find out the etiological pattern of blepharoptosis among patients presenting in BPKLCOS, T.U. Teaching Hospital. This was a hospital based descriptive and cross-sectional study conducted from February 2003 to July 2004.
Raba Thapa, P C Karmacharya, B P Nepal
doaj   +1 more source