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Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
Published in:
Clinical Genetics, 2017, v. 91, n. 5, p. 690, doi. 10.1111/cge.12855
By:
- Shahrour, M.A.;
- Staretz‐Chacham, O.;
- Dayan, D.;
- Stephen, J.;
- Weech, A.;
- Damseh, N.;
- Pri Chen, H.;
- Edvardson, S.;
- Mazaheri, S.;
- Saada, A.;
- Hershkovitz, E.;
- Shaag, A.;
- Huizing, M.;
- Abu‐Libdeh, B.;
- Gahl, W.A;
- Azem, A.;
- Anikster, Y.;
- Vilboux, T.;
- Elpeleg, O.;
- Malicdan, M.C.
Publication type:
Article
A case of Tourette syndrome presenting with oral self-injurious behaviour.
Published in:
International Journal of Paediatric Dentistry, 2005, v. 15, n. 5, p. 370, doi. 10.1111/j.1365-263X.2005.00652.x
By:
- LEKSELL, E.;
- EDVARDSON, S.
Publication type:
Article
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Published in:
Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 737, doi. 10.1007/s10545-012-9492-z
By:
- Koene, S.;
- Rodenburg, R.;
- Knaap, M.;
- Willemsen, M.;
- Sperl, W.;
- Laugel, V.;
- Ostergaard, E.;
- Tarnopolsky, M.;
- Martin, M.;
- Nesbitt, V.;
- Fletcher, J.;
- Edvardson, S.;
- Procaccio, V.;
- Slama, A.;
- Heuvel, L.;
- Smeitink, J.
Publication type:
Article
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1170, doi. 10.1002/ajmg.a.33972
By:
- Edvardson, S.;
- Jalas, C.;
- Shaag, A.;
- Zenvirt, S.;
- Landau, C.;
- Lerer, I.;
- Elpeleg, O.
Publication type:
Article

Found: 4

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.

A case of Tourette syndrome presenting with oral self-injurious behaviour.

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.