Literature DB >> 8687192

Genetic heterogeneity in Leigh syndrome.

S DiMauro, D C De Vivo.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8687192     DOI： 10.1002/ana.410400104

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


× No keyword cloud information.
  19 in total

Review 1.  Disorders related to mitochondrial membranes: pathology of the respiratory chain and neurodegeneration.

Authors:  S Di Donato
Journal:  J Inherit Metab Dis       Date:  2000-05       Impact factor: 4.982

Review 2.  Clinical mitochondrial genetics.

Authors:  P F Chinnery; N Howell; R M Andrews; D M Turnbull
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

3.  Multifocal subacute necrotizing encephalomyelopathy in a Simmental calf.

Authors:  I Desjardins; G Fecteau; P Hélie; A Desrochers
Journal:  Can Vet J       Date:  2001-05       Impact factor: 1.008

4.  Mitochondrial DNA 11777C>A mutation associated Leigh syndrome: case report with a review of the previously described pedigrees.

Authors:  Kinga Hadzsiev; Anita Maasz; Peter Kisfali; Endre Kalman; Eva Gomori; Endre Pal; Ervin Berenyi; Katalin Komlosi; Bela Melegh
Journal:  Neuromolecular Med       Date:  2010-05-26       Impact factor: 3.843

5.  Multiple presentation of mitochondrial disorders.

Authors:  A Nissenkorn; A Zeharia; D Lev; A Fatal-Valevski; V Barash; A Gutman; S Harel; T Lerman-Sagie
Journal:  Arch Dis Child       Date:  1999-09       Impact factor: 3.791

6.  Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.

Authors:  C Dionisi-Vici; S Seneca; M Zeviani; G Fariello; M Rimoldi; E Bertini; L De Meirleir
Journal:  J Inherit Metab Dis       Date:  1998-02       Impact factor: 4.982

Review 7.  The dystonias.

Authors:  P R Jarman; T T Warner
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

Review 8.  Metabolic disturbances in diseases with neurological involvement.

Authors:  João M N Duarte; Patrícia F Schuck; Gary L Wenk; Gustavo C Ferreira
Journal:  Aging Dis       Date:  2013-11-30       Impact factor: 6.745

9.  A zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet.

Authors:  Michael R Taylor; James B Hurley; Heather A Van Epps; Susan E Brockerhoff
Journal:  Proc Natl Acad Sci U S A       Date:  2004-03-15       Impact factor: 11.205

Review 10.  The neuroimaging of Leigh syndrome: case series and review of the literature.

Authors:  Eliana Bonfante; Mary Kay Koenig; Rahmat B Adejumo; Vinu Perinjelil; Roy F Riascos
Journal:  Pediatr Radiol       Date:  2016-01-06
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.