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Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.
Rius R, Bennett NK, Bhattacharya K, Riley LG, Yüksel Z, Formosa LE, Compton AG, Dale RC, Cowley MJ, Gayevskiy V, Al Tala SM, Almehery AA, Ryan MT, Thorburn DR, Nakamura K, Christodoulou J. Rius R, et al. Among authors: bhattacharya k. Hum Mutat. 2022 Dec;43(12):1970-1978. doi: 10.1002/humu.24453. Epub 2022 Sep 7. Hum Mutat. 2022. PMID: 36030551 Free PMC article.
Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.
Shanti B, Silink M, Bhattacharya K, Howard NJ, Carpenter K, Fietz M, Clayton P, Christodoulou J. Shanti B, et al. Among authors: bhattacharya k. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S241-51. doi: 10.1007/s10545-009-1180-2. Epub 2009 Apr 27. J Inherit Metab Dis. 2009. PMID: 19396570
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley LG, Cowley MJ, Gayevskiy V, Minoche AE, Puttick C, Thorburn DR, Rius R, Compton AG, Menezes MJ, Bhattacharya K, Coman D, Ellaway C, Alexander IE, Adams L, Kava M, Robinson J, Sue CM, Balasubramaniam S, Christodoulou J. Riley LG, et al. Among authors: bhattacharya k. Genet Med. 2020 Jul;22(7):1254-1261. doi: 10.1038/s41436-020-0793-6. Epub 2020 Apr 21. Genet Med. 2020. PMID: 32313153 Free article.
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Jeroen Vermeulen R, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Frazier AE, et al. Among authors: bhattacharya k. Med. 2021 Jan 15;2(1):49-73. doi: 10.1016/j.medj.2020.06.004. Epub 2020 Jul 9. Med. 2021. PMID: 33575671 Free PMC article.
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Mohammad SS, Angiti RR, Biggin A, Morales-Briceño H, Goetti R, Perez-Dueñas B, Gregory A, Hogarth P, Ng J, Papandreou A, Bhattacharya K, Rahman S, Prelog K, Webster RI, Wassmer E, Hayflick S, Livingston J, Kurian M, Chong WK, Dale RC; Basal Ganglia MRI Study Group. Mohammad SS, et al. Among authors: bhattacharya k. Brain Commun. 2020 Oct 26;2(2):fcaa178. doi: 10.1093/braincomms/fcaa178. eCollection 2020. Brain Commun. 2020. PMID: 33629063 Free PMC article.
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Riley LG, Nafisinia M, Menezes MJ, Nambiar R, Williams A, Barnes EH, Selvanathan A, Lichkus K, Bratkovic D, Yaplito-Lee J, Bhattacharya K, Ellaway C, Kava M, Balasubramaniam S, Christodoulou J. Riley LG, et al. Among authors: bhattacharya k. Mol Genet Metab. 2022 Jan;135(1):63-71. doi: 10.1016/j.ymgme.2021.12.001. Epub 2021 Dec 8. Mol Genet Metab. 2022. PMID: 34991945
Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian Centers.
Djafar JV, Smith NJ, Johnson AM, Bhattacharya K, Ardern-Holmes SL, Ellaway C, Dale RC, D'Silva AM, Kariyawasam DS, Grattan S, Kandula T, Lewis K, Mohammed SS, Farrar MA. Djafar JV, et al. Among authors: bhattacharya k. Pediatr Neurol. 2023 Dec;149:75-83. doi: 10.1016/j.pediatrneurol.2023.09.006. Epub 2023 Sep 21. Pediatr Neurol. 2023. PMID: 37806042
526 results