Results 101 to 110 of about 13,407 (248)

Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions [PDF]

, 2016
Mitochondrial DNA (mtDNA) mutations are a common cause of primary mitochondrial disorders, and have also been implicated in a broad collection of conditions, including aging, neurodegeneration, and cancer.
A Bender, C Barthélémy, CT Moraes, CT Moraes, DC Wallace, DW Dong, Ea Schon, EJ Brierley, G Campbell, J Damas, J Damas, J Villarroya, J Wanagat, JB Stewart, JP Grady, K Khrapko, K Maniura-Weber, KJ Krishnan, L He, L Van Haute, L-JJC Wong, LC Greaves, M Elstner, M Sciacco, NF Cariello, NG Gokey, NR Phillips, NZ Lax, P Manoj, PF Chinnery, RW Taylor, S DiMauro, SD Taylor, SSL Chan, V Nesbitt, X Guo, Y Kraytsberg, Y Tang, Z Cao   +38 more
core   +1 more source

Outcome of Ptosis Surgery in Patients with Chronic Progressive External Ophthalmoplegia

Türk Oftalmoloji Dergisi, 2014
Objectives: To evaluate the clinical features and the outcome of ptosis surgery in patients with chronic progressive external ophthalmoplegia (CPEO). Materials and Methods: The demographic features, surgical approaches, anatomic and functional outcomes,
Şeyda Uğurlu, Sevinç Atik, Mehmet Reşit Işık, Gülden Diniz   +3 more
doaj   +1 more source

Kearns-Sayre syndrome-A case report

Indian Journal of Ophthalmology, 1990
A case of Kearns - Sayre Syndrome characterized by a triad of external ophthalmoplegia, retinal dystrophy and cardiomyopathy is discussed. Ocular examination and cardiologic screening of family members is requested.
Rekhi Gulbir
doaj  

Mechanisms and effects of mitochondrial DNA instability and copy number manipulation [PDF]

, 2011
Defects in mitochondrial DNA (mtDNA) maintenance cause a range of human diseases, including autosomal dominant progressive external ophthalmoplegia (adPEO). This study aimed to clarify the molecular background of adPEO. We discovered that deoxynucleoside
Ylikallio, Emil
core  

AChR deficiency due to ε-subunit mutations: Two common mutations in the Netherlands [PDF]

, 2009
Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of hereditary disorders affecting neuromuscular transmission. We have identified mutations within the acetylcholine receptor (AChR) ε-subunit gene underlying congenital ...
Baets, M.H. (Marc) de, Beeson, D. (David), Bonifati, D.M. (Domenic), Doorn, P.A. (Pieter) van, Faber, C.G. (Carin), Kuks, J.B.M. (Jan), Molenaar, P.C. (Peter), Verschuuren, J.J. (Jan), Vles, J.S.H. (Johannes), Wokke, J.H.J. (John)   +9 more
core   +1 more source

Anesthetic management of a parturient with Kearns–Sayre syndrome, dual-chamber and VVI implantable defibrillator pacemaker/defibrillator, and preeclampsia for cesarean delivery: A case report and review of the literature

Saudi Journal of Anaesthesia, 2018
Kearns–Sayre syndrome (KSS), a rare form of mitochondrial myopathy, is a triad of chronic progressive external ophthalmoplegia, bilateral pigmentary retinopathy, and cardiac conduction abnormalities. In this report, we show how a combined spinal epidural
Abdulmohsen Al Ghamdi
doaj   +1 more source

Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study [PDF]

, 2010
Background It has been postulated that eye movement disorders in chronic progressive external ophthalmoplegia (CPEO) have a neurological as well as a myopathic component to them.
Chinnery, P. F., Davidson, A. W., Griffiths, P.G., Ritchie, A. E.   +3 more
core   +1 more source

Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes. [PDF]

, 2007
The mechanism of mitochondrial DNA replication is a subject of intense debate. One model proposes a strand-asynchronous replication in which both strands of the circular genome are replicated semi-independently while the other model proposes both a ...
Goffart, S, Pohjoismäki, JLO, Spelbrink, JN, Wanrooij, S, Yasukawa, T   +4 more
core   +1 more source

Chronic Double External Ophthalmoplegia and Ptosis as an Isolated Lesion [PDF]

, 1927
Rosa Ford
openalex   +1 more source

A case of Bickerstaff's brainstem encephalitis in childhood [PDF]

, 2010
Bickerstaff's brainstem encephalitis (BBE) is a rare disease diagnosed by specific clinical features such as 'progressive, relatively symmetric external ophthalmoplegia and ataxia by 4 weeks' and ' ...
Al-Din, Bickerstaff, Bickerstaff, Fisher, Fox, Ito, Jacobs, Ji Youn Kim, Kamasaki, Kanzaki, Matsuo, Odaka, Odaka, Ozawa, Tagawa, Wali, Williams, Young Jong Woo, Young Jun Son, Young Ok Kim, Yuki, Yuki, Yuki   +22 more
core   +1 more source