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Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
Mulkey SB, Ben-Zeev B, Nicolai J, Carroll JL, Grønborg S, Jiang YH, Joshi N, Kelly M, Koolen DA, Mikati MA, Park K, Pearl PL, Scheffer IE, Spillmann RC, Taglialatela M, Vieker S, Weckhuysen S, Cooper EC, Cilio MR. Mulkey SB, et al. Among authors: joshi n. Epilepsia. 2017 Mar;58(3):436-445. doi: 10.1111/epi.13676. Epub 2017 Jan 31. Epilepsia. 2017. PMID: 28139826 Free PMC article.
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
Millichap JJ, Park KL, Tsuchida T, Ben-Zeev B, Carmant L, Flamini R, Joshi N, Levisohn PM, Marsh E, Nangia S, Narayanan V, Ortiz-Gonzalez XR, Patterson MC, Pearl PL, Porter B, Ramsey K, McGinnis EL, Taglialatela M, Tracy M, Tran B, Venkatesan C, Weckhuysen S, Cooper EC. Millichap JJ, et al. Among authors: joshi n. Neurol Genet. 2016 Aug 22;2(5):e96. doi: 10.1212/NXG.0000000000000096. eCollection 2016 Oct. Neurol Genet. 2016. PMID: 27602407 Free PMC article.
Impact of upadacitinib induction and maintenance therapy on health-related quality of life, fatigue, and work productivity in patients with moderately-to-severely active Crohn's disease.
Ghosh S, Feagan BG, Parra RS, Lopes S, Steinlauf A, Kakuta Y, Joshi N, Lee WJ, Lacerda AP, Zhou Q, Xuan S, Kligys K, Shukla N, Louis E. Ghosh S, et al. Among authors: joshi n. J Crohns Colitis. 2024 Jun 5:jjae083. doi: 10.1093/ecco-jcc/jjae083. Online ahead of print. J Crohns Colitis. 2024. PMID: 38835235
A Mechanically Resilient Soft Hydrogel Improves Drug Delivery for Treating Post-Traumatic Osteoarthritis in Physically Active Joints.
Joshi N, Yan J, Dang M, Slaughter K, Wang Y, Wu D, Ung T, Pandya V, Chen MX, Kaur S, Bhagchandani S, Alfassam HA, Joseph J, Gao J, Dewani M, Yip RCS, Weldon E, Shah P, Shukla C, Sherman NE, Luo JN, Conway T, Eickhoff JP, Botelho L, Alhasan AH, Karp JM, Ermann J. Joshi N, et al. bioRxiv [Preprint]. 2024 May 21:2024.05.16.594611. doi: 10.1101/2024.05.16.594611. bioRxiv. 2024. PMID: 38826308 Free PMC article. Preprint.
Genotype-by-genotype interkingdom cross-talk between symbiotic nitrogen fixing Sinorhizobium meliloti strains and Trichoderma species.
Vaccaro F, Passeri I, Ajijah N, Bettini P, Courty PE, Dębiec-Andrzejewska K, Joshi N, Kowalewska Ł, Stasiuk R, Musiałowski M, Pranaw K, Mengoni A. Vaccaro F, et al. Among authors: joshi n. Microbiol Res. 2024 May 18;285:127768. doi: 10.1016/j.micres.2024.127768. Online ahead of print. Microbiol Res. 2024. PMID: 38820702 Free article.
1,548 results