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CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes.
Maio N, Orbach R, Zaharieva IT, Töpf A, Donkervoort S, Munot P, Mueller J, Willis T, Verma S, Peric S, Krishnakumar D, Sudhakar S, Foley AR, Silverstein S, Douglas G, Pais L, DiTroia S, Grunseich C, Hu Y, Sewry C, Sarkozy A, Straub V, Muntoni F, Rouault TA, Bönnemann CG. Maio N, et al. Among authors: krishnakumar d. J Clin Invest. 2024 Jun 17;134(12):e179559. doi: 10.1172/JCI179559. J Clin Invest. 2024. PMID: 38950322 Free PMC article.
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes.
Maio N, Orbach R, Zaharieva I, Töpf A, Donkervoort S, Munot P, Mueller J, Willis T, Verma S, Peric S, Krishnakumar D, Sudhakar S, Foley AR, Silverstein S, Douglas G, Pais L, DiTroia S, Grunseich C, Hu Y, Sewry C, Sarkozy A, Straub V, Muntoni F, Rouault T, Bönnemann CG. Maio N, et al. Among authors: krishnakumar d. medRxiv [Preprint]. 2023 Dec 20:2023.12.20.23300170. doi: 10.1101/2023.12.20.23300170. medRxiv. 2023. Update in: J Clin Invest. 2024 Jun 17;134(12):e179559. doi: 10.1172/JCI179559 PMID: 38196629 Free PMC article. Updated. Preprint.
Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Henzi BC, Schmidt S, Nagy S, Rubino-Nacht D, Schaedelin S, Putananickal N, Stimpson G; North Star Consortium; Amthor H, Childs AM, Deconinck N, de Groot I, Horrocks I, Houwen-van Opstal S, Laugel V, Lopez Lobato M, Madruga Garrido M, Nascimento Osorio A, Schara-Schmidt U, Spinty S, von Moers A, Lawrence F, Hafner P, Dorchies OM, Fischer D. Henzi BC, et al. Lancet Neurol. 2023 Oct;22(10):890-899. doi: 10.1016/S1474-4422(23)00285-5. Lancet Neurol. 2023. PMID: 37739572 Clinical Trial.
How to use lumbar puncture manometry in children.
Holland JA, Funnell JP, Mittal R, Krishnakumar D. Holland JA, et al. Among authors: krishnakumar d. Arch Dis Child Educ Pract Ed. 2023 Oct;108(5):340-346. doi: 10.1136/archdischild-2022-324881. Epub 2023 Jan 20. Arch Dis Child Educ Pract Ed. 2023. PMID: 36669865 Free PMC article.
54 results