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John Christodoulou
Titolo
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Anno
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
15732010
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
9511996
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
6841992
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
5932004
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
5702012
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
5412021
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
3932006
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
3852021
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
3262013
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
3072017
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
2902010
Phenylketonuria: a review of current and future treatments
N Al Hafid, J Christodoulou
Translational pediatrics 4 (4), 304, 2015
2842015
The genetic landscape and epidemiology of phenylketonuria
A Hillert, Y Anikster, A Belanger-Quintana, A Burlina, BK Burton, ...
The American Journal of Human Genetics 107 (2), 234-250, 2020
2752020
Rett syndrome: clinical review and genetic update
LS Weaving, CJ Ellaway, J Gecz, J Christodoulou
Journal of medical genetics 42 (1), 1-7, 2005
2652005
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
2472006
An international classification of inherited metabolic disorders (ICIMD)
CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ...
Journal of inherited metabolic disease 44 (1), 164-177, 2021
2322021
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
2272005
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
2152011
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
2132008
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
2102003
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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