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Page 1
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Lewis H, Samanta D, Örsell JL, Bosanko KA, Rowell A, Jones M, Dale RC, Taravath S, Hahn CD, Krishnakumar D, Chagnon S, Keller S, Hagebeuk E, Pathak S, Bebin EM, Arndt DH, Alexander JJ, Mainali G, Coppola G, Maclean J, Sparagana S, McNamara N, Smith DM, Raggio V, Cruz M, Fernández-Jaén A, Kava MP, Emrick L, Fish JL, Vanderver A, Helman G, Pierson TM, Zarate YA. Lewis H, et al. Among authors: krishnakumar d. Pediatr Neurol. 2020 Nov;112:94-100. doi: 10.1016/j.pediatrneurol.2020.04.006. Epub 2020 Apr 13. Pediatr Neurol. 2020. PMID: 32446642
Different stroke(s).
Mundada V, Krishnakumar D, Chitre M, Das T. Mundada V, et al. Among authors: krishnakumar d. Arch Dis Child Educ Pract Ed. 2016 Jun;101(3):145. doi: 10.1136/archdischild-2014-306744. Epub 2015 Jun 12. Arch Dis Child Educ Pract Ed. 2016. PMID: 26071419 No abstract available.
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study.
Trucco F, Ridout D, Scoto M, Coratti G, Main ML, Muni Lofra R, Mayhew AG, Montes J, Pane M, Sansone V, Albamonte E, D'Amico A, Bertini E, Messina S, Bruno C, Parasuraman D, Childs AM, Gowda V, Willis T, Ong M, Marini-Bettolo C, De Vivo DC, Darras BT, Day J, Kichula EA, Mayer OH, Navas Nazario AA, Finkel RS, Mercuri E, Muntoni F; International SMA Consortium (iSMAc). Trucco F, et al. Neurology. 2021 Jan 26;96(4):e587-e599. doi: 10.1212/WNL.0000000000011051. Epub 2020 Oct 16. Neurology. 2021. PMID: 33067401 Free PMC article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Clinical features, investigations, and outcomes of pediatric limbic encephalitis: A multicenter study.
Sabanathan S, Abdel-Mannan O, Mankad K, Siddiqui A, Das K, Carr L, Eltze C, Eyre M, Gadian J, Hemingway C, Kaliakatsos M, Kneen R, Krishnakumar D, Lynch B, Parida A, Rossor T, Taylor M, Wassmer E, Wright S, Lim M, Hacohen Y. Sabanathan S, et al. Among authors: krishnakumar d. Ann Clin Transl Neurol. 2022 Jan;9(1):67-78. doi: 10.1002/acn3.51494. Epub 2022 Jan 11. Ann Clin Transl Neurol. 2022. PMID: 35015932 Free PMC article.
The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study.
Verity CM, Winstone AM, Stellitano L, Krishnakumar D, Will R, McFarland R. Verity CM, et al. Among authors: krishnakumar d. Dev Med Child Neurol. 2010 May;52(5):434-40. doi: 10.1111/j.1469-8749.2009.03463.x. Epub 2009 Sep 12. Dev Med Child Neurol. 2010. PMID: 19747204 Free article.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
53 results