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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: balasubramaniam s. 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.
Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).
Balasubramaniam S, Lewis B, Mock DM, Said HM, Tarailo-Graovac M, Mattman A, van Karnebeek CD, Thorburn DR, Rodenburg RJ, Christodoulou J. Balasubramaniam S, et al. JIMD Rep. 2017;33:111. doi: 10.1007/8904_2017_588. JIMD Rep. 2017. PMID: 29076057 Free PMC article. No abstract available.
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.
Di Zanni E, Palagano E, Lagostena L, Strina D, Rehman A, Abinun M, De Somer L, Martire B, Brown J, Kariminejad A, Balasubramaniam S, Baynam G, Gurrieri F, Pisanti MA, De Maggio I, Abboud MR, Chiesa R, Burren CP, Villa A, Sobacchi C, Picollo A. Di Zanni E, et al. Among authors: balasubramaniam s. J Bone Miner Res. 2021 Mar;36(3):531-545. doi: 10.1002/jbmr.4200. Epub 2020 Nov 29. J Bone Miner Res. 2021. PMID: 33125761 Free article.
389 results