The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case

Por Tchan, M. C., Wilcken, B., Christodoulou, J.
Publicado em 2012

Prolonged QT interval in Rett syndrome

Por Ellaway, C, Sholler, G, Leonard, H, Christodoulou, J
Publicado em 1999

Rett syndrome: clinical review and genetic update

Por Weaving, L, Ellaway, C, Gecz, J, Christodoulou, J
Publicado em 2005

Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.

Por Christodoulou, J, McDougall, P N, Sheffield, L J
Publicado em 1989

Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet

Por Ryder, B., Moore, F., Mitchell, A., Thompson, S., Christodoulou, J., Balasubramaniam, S.
Publicado no JIMD Rep (2017)

A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect.

Por Smooker, P M, Christodoulou, J, McInnes, R R, Cotton, R G
Publicado em 1995

A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.

Por Christodoulou, J, Hall, R K, Menahem, S, Hopkins, I J, Rogers, J G
Publicado em 1988

The molecular basis of malonyl-CoA decarboxylase deficiency.

Por FitzPatrick, D R, Hill, A, Tolmie, J L, Thorburn, D R, Christodoulou, J
Publicado em 1999

Refining the phenotype of common mutations in Rett syndrome

Por Colvin, L, Leonard, H, de Klerk, N, Davis, M, Weaving, L, Williamson, S, Christodoulou, J
Publicado em 2004

Describing the phenotype in Rett syndrome using a population database

Por Colvin, L, Fyfe, S, Leonard, S, Schiavello, T, Ellaway, C, de Klerk, N, Christodoulou, J, Msall, M, Leonard, H
Publicado em 2003

Type 2 Gaucher disease: the collodion baby phenotype revisited

Por Stone, D, Carey, W, Christodoulou, J, Sillence, D, Nelson, P, Callahan, M, Tayebi, N, Sidransky, E
Publicado em 2000

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Por Zeev, B Ben, Bebbington, A, Ho, G, Leonard, H, de Klerk, N, Gak, E, Vecksler, M, Christodoulou, J
Publicado em 2009

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Por Tatuch, Y, Christodoulou, J, Feigenbaum, A, Clarke, J T, Wherret, J, Smith, C, Rudd, N, Petrova-Benedict, R, Robinson, B H
Publicado em 1992

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Por Saxena, A, de Lagarde, D, Leonard, H, Williamson, S L, Vasudevan, V, Christodoulou, J, Thompson, E, MacLeod, P, Ravine, D
Publicado em 2006

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

Por Leonard, H, Colvin, L, Christodoulou, J, Schiavello, T, Williamson, S, Davis, M, Ravine, D, Fyfe, S, de Klerk, N, Matsuishi, T, Kondo, I, Clarke, A, Hackwell, S, Yamashita, Y
Publicado em 2003

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

Por Bebbington, A, Percy, A, Christodoulou, J, Ravine, D, Ho, G, Jacoby, P, Anderson, A, Pineda, M, Ben Zeev, B, Bahi-Buisson, N, Smeets, E, Leonard, H
Publicado em 2009

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)

Por Balasubramaniam, Shanti, Lewis, B., Mock, D. M., Said, H. M., Tarailo-Graovac, M., Mattman, A., van Karnebeek, C. D., Thorburn, D. R., Rodenburg, R. J., Christodoulou, J.
Publicado no JIMD Rep (2016)

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome

Por Gill, H, Cheadle, J, Maynard, J, Fleming, N, Whatley, S, Cranston, T, Thompson, E, Leonard, H, Davis, M, Christodoulou, J, Skjeldal, O, Hanefeld, F, Kerr, A, Tandy, A, Ravine, D, Clarke, A
Publicado em 2003