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Page 1
Consensus recommendations for the assessment and management of idiopathic intracranial hypertension in children and young people.
Amin S, Monaghan M, Forrest K, Harijan P, Mehta V, Moran M, Mukhtyar B, Muthusamy B, Parker A, Prabhakar P, Whitehouse WP, Krishnakumar D. Amin S, et al. Among authors: krishnakumar d. Arch Dis Child. 2024 May 9:archdischild-2023-326545. doi: 10.1136/archdischild-2023-326545. Online ahead of print. Arch Dis Child. 2024. PMID: 38724065
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. PMID: 38196629 Free PMC article. 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.
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Zaki MS, O'Brien TJ, Karimiani EG, Kaiyrzhanov R, Takizawa M, Ohori S, Leong HY, Akay G, Galehdari H, Zamani M, Romy R, Carroll CJ, Toosi MB, Ashrafzadeh F, Imannezhad S, Malek H, Ahangari N, Tomoum H, Gowda VK, Srinivasan VM, Murphy D, Dominik N, Elbendary HM, Rafat K, Yilmaz S, Kanmaz S, Serin M, Krishnakumar D, Gardham A, Maw A, Rao TS, Alsubhi S, Srour M, Buhas D, Jewett T, Goldberg RE, Shamseldin H, Frengen E, Misceo D, Strømme P, Magliocco Ceroni JR, Kim CA, Yesil G, Sengenc E, Guler S, Hull M, Parnes M, Aktas D, Anlar B, Bayram Y, Pehlivan D, Posey JE, Alavi S, Madani Manshadi SA, Alzaidan H, Al-Owain M, Alabdi L, Abdulwahab F, Sekiguchi F, Hamanaka K, Fujita A, Uchiyama Y, Mizuguchi T, Miyatake S, Miyake N, Elshafie RM, Salayev K, Guliyeva U, Alkuraya FS, Gleeson JG, Monaghan KG, Langley KG, Yang H, Motavaf M, Safari S, Alipour M, Ogata K, Brown AEX, Lupski JR, Houlden H, Matsumoto N. Saida K, et al. Among authors: krishnakumar d. Genet Med. 2023 Jan;25(1):90-102. doi: 10.1016/j.gim.2022.09.010. Epub 2022 Oct 31. Genet Med. 2023. PMID: 36318270 Free article.
53 results