Literature DB >> 1383603

Mitochondrial abnormalities in the DIDMOAD syndrome.

S Bundey1, K Poulton, H Whitwell, E Curtis, I A Brown, A R Fielder.   

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Year:  1992        PMID： 1383603     DOI： 10.1007/bf02435965

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  7 in total

1.  Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?

Authors:  F C Fraser; T Gunn
Journal:  J Med Genet       Date:  1977-06       Impact factor: 6.318

2.  Simultaneous occurrence of diabetes mellitus, diabetes insipidus, and optic atrophy in a brother and sister.

Authors:  M J Carson; U T Slager; R M Steinberg
Journal:  Am J Dis Child       Date:  1977-12

3.  Thiamine-responsive anemia in DIDMOAD syndrome.

Authors:  C Borgna-Pignatti; P Marradi; L Pinelli; N Monetti; C Patrini
Journal:  J Pediatr       Date:  1989-03       Impact factor: 4.406

4.  Optic atrophy in Wolfram syndrome.

Authors:  A T Mtanda; J R Cruysberg; A J Pinckers
Journal:  Ophthalmic Paediatr Genet       Date:  1986-12

5.  Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients.

Authors:  C W Cremers; P G Wijdeveld; A J Pinckers
Journal:  Acta Paediatr Scand Suppl       Date:  1977

6.  Psychiatric findings in Wolfram syndrome homozygotes.

Authors:  R G Swift; D B Sadler; M Swift
Journal:  Lancet       Date:  1990-09-15       Impact factor: 79.321

7.  Glutamate dehydrogenase in olivopontocerebellar atrophies: leukocytes, fibroblasts, and muscle mitochondria.

Authors:  G Finocchiaro; F Taroni; S Di Donato
Journal:  Neurology       Date:  1986-04       Impact factor: 9.910
  7 in total
  13 in total

1.  Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.

Authors:  C Hardy; F Khanim; R Torres; M Scott-Brown; A Seller; J Poulton; D Collier; J Kirk; M Polymeropoulos; F Latif; T Barrett
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

2.  Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion.

Authors:  A Barrientos; J Casademont; A Saiz; F Cardellach; V Volpini; A Solans; E Tolosa; A Urbano-Marquez; X Estivill; V Nunes
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

3.  A clinical case study of a Wolfram syndrome-affected family: pattern-reversal visual evoked potentials and electroretinography analysis.

Authors:  Ewa Langwińska-Wośko; Karina Broniek-Kowalik; Kamil Szulborski
Journal:  Doc Ophthalmol       Date:  2012-02-07       Impact factor: 2.379

4.  DIDMOAD syndrome; further studies and muscle biochemistry.

Authors:  T G Barrett; K Poulton; S Bundey
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

5.  A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.

Authors:  A Barrientos; V Volpini; J Casademont; D Genís; J M Manzanares; I Ferrer; J Corral; F Cardellach; A Urbano-Márquez; X Estivill; V Nunes
Journal:  J Clin Invest       Date:  1996-04-01       Impact factor: 14.808

Review 6.  Wolfram (DIDMOAD) syndrome.

Authors:  T G Barrett; S E Bundey
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

7.  Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice.

Authors:  Yi-Fan Chen; Cheng-Heng Kao; Ya-Ting Chen; Chih-Hao Wang; Chia-Yu Wu; Ching-Yen Tsai; Fu-Chin Liu; Chu-Wen Yang; Yau-Huei Wei; Ming-Ta Hsu; Shih-Feng Tsai; Ting-Fen Tsai
Journal:  Genes Dev       Date:  2009-05-15       Impact factor: 11.361

8.  Mitochondrial abnormalities drive cell death in Wolfram syndrome 2.

Authors:  Tomotake Kanki; Daniel J Klionsky
Journal:  Cell Res       Date:  2009-08       Impact factor: 25.617

9.  The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family.

Authors:  Jie Hong; Yu-Wen Zhang; Hui-Jie Zhang; Hui-Ying Jia; Yu Zhang; Xiao-Yi Ding; Dan-Yang Zhou; Hui-Ping Chen; Xiao-Hua Jiang; Bin Cui; Xiao-Ying Li; Guang Ning
Journal:  Endocrine       Date:  2009-01-22       Impact factor: 3.633

10.  A case of wolfram syndrome.

Authors:  Gholamali Naderian; Fereshteh Ashtari; Kia Nouri-Mahdavi; Valleh Sajjadi
Journal:  J Ophthalmic Vis Res       Date:  2010-01
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