Literature DB >> 22869689

Pearls & oy-sters: maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy.

Olufunmilola Ogun1, Claire Sheldon, Jason J S Barton.   

Abstract

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Year:  2012        PMID： 22869689      PMCID： PMC4098813          DOI： 10.1212/WNL.0b013e31826356ad

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  10 in total

1.  A new phenotype of macular dystrophy associated with a mitochondrial A3243G mutation.

Authors:  Sobha Sivaprasad; Boom Ting Kung; Anthony G Robson; Graeme Black; Andrew R Webster; Alan Bird; Catherine Egan
Journal:  Clin Exp Ophthalmol       Date:  2008 Jan-Feb       Impact factor: 4.207

Review 2.  Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation.

Authors:  R Murphy; D M Turnbull; M Walker; A T Hattersley
Journal:  Diabet Med       Date:  2008-02-18       Impact factor: 4.359

3.  Role of mitochondrial variation in maternally inherited diabetes and deafness syndrome.

Authors:  T Howes; C Madden; S Dasgupta; S Saeed; V Das
Journal:  J Laryngol Otol       Date:  2008-11       Impact factor: 1.469

4.  Ophthalmological findings in children and young adults with genetically verified mitochondrial disease.

Authors:  M A Grönlund; A K Seyedi Honarvar; S Andersson; A R Moslemi; A Oldfors; E Holme; M Tulinius; N Darin
Journal:  Br J Ophthalmol       Date:  2010-01       Impact factor: 4.638

5.  Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.

Authors:  P R Smith; S C Bain; P A Good; A T Hattersley; A H Barnett; J M Gibson; P M Dodson
Journal:  Ophthalmology       Date:  1999-06       Impact factor: 12.079

6.  Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM Group.

Authors:  P Massin; M Virally-Monod; B Vialettes; M Paques; H Gin; B Porokhov; S Caillat-Zucman; P Froguel; V Paquis-Fluckinger; A Gaudric; P J Guillausseau
Journal:  Ophthalmology       Date:  1999-09       Impact factor: 12.079

7.  Ptosis as an associated finding in maternally inherited diabetes and deafness.

Authors:  Kirsten Robberecht; Christian Decock; Annemie Stevens; Sara Seneca; Jan De Bleecker; Bart P Leroy
Journal:  Ophthalmic Genet       Date:  2010-12       Impact factor: 1.803

Review 8.  Mitochondrial DNA (mtDNA) A 3243G mutation associated with an annular perimacular retinal atrophy.

Authors:  E Adjadj; K Mansouri; F-X Borruat
Journal:  Klin Monbl Augenheilkd       Date:  2008-05       Impact factor: 0.700

9.  The effects of coenzyme Q10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation.

Authors:  S Suzuki; Y Hinokio; M Ohtomo; M Hirai; A Hirai; M Chiba; S Kasuga; Y Satoh; H Akai; T Toyota
Journal:  Diabetologia       Date:  1998-05       Impact factor: 10.122

10.  Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members.

Authors:  Michel Michaelides; Sharon A Jenkins; Doris-Eva Bamiou; Mary G Sweeney; Mary B Davis; Linda Luxon; Alan C Bird; Pamela P Rath
Journal:  Arch Ophthalmol       Date:  2008-03
  10 in total
  1 in total

1.  The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness.

Authors:  Josef Finsterer; Marlies Frank
Journal:  Oman Med J       Date:  2018-09
  1 in total

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