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8 in total

1. Mitochondrial abnormalities in the DIDMOAD syndrome.

Authors: S Bundey; K Poulton; H Whitwell; E Curtis; I A Brown; A R Fielder
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

2. Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells.

Authors: H R Scholte; H F Busch; I E Luyt-Houwen; M H Vaandrager-Verduin; H Przyrembel; W F Arts
Journal: J Inherit Metab Dis Date: 1987 Impact factor: 4.982

3. Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.

Authors: M J Jackson; L A Bindoff; K Weber; J N Wilson; P Ince; K G Alberti; D M Turnbull
Journal: Diabetes Care Date: 1994-07 Impact factor: 19.112

Review 4. Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies.

Authors: X X Zheng; J M Shoffner; A S Voljavec; D C Wallace
Journal: Biochim Biophys Acta Date: 1990-08-09

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. Low leukocyte glutamate dehydrogenase activity does not correlate with a particular type of multiple system atrophy.

Authors: R C Duvoisin; W J Nicklas; V Ritchie; J Sage; S Chokroverty
Journal: J Neurol Neurosurg Psychiatry Date: 1988-12 Impact factor: 10.154

7. Leukocyte glutamate dehydrogenase activity in patients with degenerative neurological disorders.

Authors: D Aubby; H K Saggu; P Jenner; N P Quinn; A E Harding; C D Marsden
Journal: J Neurol Neurosurg Psychiatry Date: 1988-07 Impact factor: 10.154

Review 8. Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).

Authors: D Pilz; O W Quarrell; E W Jones
Journal: J Med Genet Date: 1994-04 Impact factor: 6.318

8 in total

3 in total

Review 1. Wolfram (DIDMOAD) syndrome.

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

2. Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression.

Authors: Malgorzata Zatyka; Gabriela Da Silva Xavier; Elisa A Bellomo; Wendy Leadbeater; Dewi Astuti; Joel Smith; Frank Michelangeli; Guy A Rutter; Timothy G Barrett
Journal: Hum Mol Genet Date: 2014-09-30 Impact factor: 6.150

3. Preventive treatment with liraglutide protects against development of glucose intolerance in a rat model of Wolfram syndrome.

Authors: Maarja Toots; Kadri Seppa; Toomas Jagomäe; Tuuliki Koppel; Maia Pallase; Indrek Heinla; Anton Terasmaa; Mario Plaas; Eero Vasar
Journal: Sci Rep Date: 2018-07-05 Impact factor: 4.379

3 in total