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John Christodoulou
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Year
Rett syndrome: revised diagnostic criteria and nomenclature
JL Neul, WE Kaufmann, DG Glaze, J Christodoulou, AJ Clarke, ...
Annals of neurology 68 (6), 944-950, 2010
14422010
Leigh syndrome: clinical features and biochemical and DNA abnormalities
S Rahman, RB Blok, HHM Dahl, DM Danks, DM Kirby, CW Chow, ...
Annals of Neurology: Official Journal of the American Neurological …, 1996
9191996
Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.
Y Tatuch, J Christodoulou, A Feigenbaum, JT Clarke, J Wherret, C Smith, ...
American journal of human genetics 50 (4), 852, 1992
6711992
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
LS Weaving, J Christodoulou, SL Williamson, KL Friend, OLD McKenzie, ...
The American Journal of Human Genetics 75 (6), 1079-1093, 2004
5532004
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
SE Calvo, AG Compton, SG Hershman, SC Lim, DS Lieber, EJ Tucker, ...
Science translational medicine 4 (118), 118ra10-118ra10, 2012
5412012
Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths
P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ...
Science immunology 6 (62), eabl4340, 2021
4222021
Rett syndrome in Australia: a review of the epidemiology
CL Laurvick, N De Klerk, C Bower, J Christodoulou, D Ravine, C Ellaway, ...
The Journal of pediatrics 148 (3), 347-352, 2006
3662006
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19
T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ...
Science immunology 6 (62), eabl4348, 2021
3162021
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
S Fehr, M Wilson, J Downs, S Williams, A Murgia, S Sartori, M Vecchi, ...
European Journal of Human Genetics 21 (3), 266-273, 2013
2952013
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
S Parikh, A Goldstein, A Karaa, MK Koenig, I Anselm, C Brunel-Guitton, ...
Genetics in Medicine 19 (12), 1380-1397, 2017
2752017
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia—MLASA syndrome
LG Riley, S Cooper, P Hickey, J Rudinger-Thirion, M McKenzie, ...
The American Journal of Human Genetics 87 (1), 52-59, 2010
2722010
Phenylketonuria: a review of current and future treatments
N Al Hafid, J Christodoulou
Translational pediatrics 4 (4), 304, 2015
2642015
Rett syndrome: clinical review and genetic update
LS Weaving, CJ Ellaway, J Gecz, J Christodoulou
Journal of medical genetics 42 (1), 1-7, 2005
2562005
Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice
GJ Pelka, CM Watson, T Radziewic, M Hayward, H Lahooti, ...
Brain 129 (4), 887-898, 2006
2392006
Early onset seizures and Rett-like features associated with mutations in CDKL5
JC Evans, HL Archer, JP Colley, K Ravn, JB Nielsen, A Kerr, E Williams, ...
European Journal of Human Genetics 13 (10), 1113-1120, 2005
2222005
RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution
J Christodoulou, A Grimm, T Maher, B Bennetts
Human mutation 21 (5), 466-472, 2003
2062003
Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease
C Sugiana, DJ Pagliarini, M McKenzie, DM Kirby, R Salemi, ...
The American Journal of Human Genetics 83 (4), 468-478, 2008
2052008
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation
EJ Tucker, SG Hershman, C Köhrer, CA Belcher-Timme, J Patel, ...
Cell metabolism 14 (3), 428-434, 2011
2032011
Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome –Mecp2 gene dosage effects and BDNF expression
M Kondo, LJ Gray, GJ Pelka, J Christodoulou, PPL Tam, AJ Hannan
European Journal of Neuroscience 27 (12), 3342-3350, 2008
1992008
Expanded newborn screening: outcome in screened and unscreened patients at age 6 years
B Wilcken, M Haas, P Joy, V Wiley, F Bowling, K Carpenter, ...
Pediatrics 124 (2), e241-e248, 2009
1892009
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