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Literature DB >> 21647632

MELAS/SANDO overlap syndrome associated with POLG1 mutations.

Niels Hansen, Thomas Zwarg, Isabel Wanke, Stephan Zierz, Oliver Kastrup, Marcus Deschauer.

Abstract

Entities: Gene Mutation

Mesh：

Substances：

Year: 2011 PMID： 21647632 DOI： 10.1007/s10072-011-0631-3

Source DB: PubMed Journal: Neurol Sci ISSN： 1590-1874 Impact factor: 3.307

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17 in total

1. Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease.

Authors: R Fadic; J A Russell; V V Vedanarayanan; M Lehar; R W Kuncl; D R Johns
Journal: Neurology Date: 1997-07 Impact factor: 9.910

2. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Authors: Rita Horvath; Gavin Hudson; Gianfrancesco Ferrari; Nancy Fütterer; Sofia Ahola; Eleonora Lamantea; Holger Prokisch; Hanns Lochmüller; Robert McFarland; V Ramesh; Thomas Klopstock; Peter Freisinger; Fabrizio Salvi; Johannes A Mayr; Rene Santer; Marketa Tesarova; Jiri Zeman; Bjarne Udd; Robert W Taylor; Douglass Turnbull; Michael Hanna; Doreen Fialho; Anu Suomalainen; Massimo Zeviani; Patrick F Chinnery
Journal: Brain Date: 2006-04-18 Impact factor: 13.501

3. MELAS associated with mutations in the POLG1 gene.

Authors: M Deschauer; S Tennant; A Rokicka; L He; T Kraya; D M Turnbull; S Zierz; R W Taylor
Journal: Neurology Date: 2007-05-15 Impact factor: 9.910

4. Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.

Authors: Charalampos Tzoulis; Laurence A Bindoff
Journal: Stroke Date: 2008-12-18 Impact factor: 7.914

5. Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case report.

Authors: Charles B Majoie; Erik M Akkerman; Christian Blank; Peter G Barth; Bwee Tien Poll-The; G J den Heeten
Journal: AJNR Am J Neuroradiol Date: 2002-05 Impact factor: 3.825

MELAS/SANDO overlap syndrome associated with POLG1 mutations.

1. Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease.

2. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

3. MELAS associated with mutations in the POLG1 gene.

4. Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.

5. Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case report.

6. MELAS: Clinical and pathologic correlations with MRI, xenon/CT, and MR spectroscopy.

7. Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome.

Review 8. Management of mitochondrial stroke-like-episodes.

9. Serial brain imaging analysis of stroke-like episodes in MELAS.

10. Slowly progressive spread of the stroke-like lesions in MELAS.

Review 1. Progressive External Ophthalmoplegia.