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Page 1
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ. Davidson AE, et al. Among authors: jayadev s. Brain. 2013 Feb;136(Pt 2):508-21. doi: 10.1093/brain/aws344. Brain. 2013. PMID: 23413262 Free PMC article.
Neurogenetics: Five new things.
Jayadev S, Smith CO, Bird TD. Jayadev S, et al. Neurol Clin Pract. 2011 Dec;1(1):41-48. doi: 10.1212/CPJ.0b013e31823c0f5f. Neurol Clin Pract. 2011. PMID: 29443318 Free PMC article.
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H; Rady Children's Institute for Genomic Medicine; Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S; Undiagnosed Disease Network; Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. Bainbridge MN, et al. Brain. 2022 Oct 21;145(10):3383-3390. doi: 10.1093/brain/awac223. Brain. 2022. PMID: 35737950 Free PMC article.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A; Undiagnosed Diseases Network; Gelb BD, Kurth I, Hempel M, Kutsche K. Schneeberger PE, et al. Brain. 2020 Aug 1;143(8):2437-2453. doi: 10.1093/brain/awaa204. Brain. 2020. PMID: 32761064 Free PMC article.
R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.
Korvatska O, Leverenz JB, Jayadev S, McMillan P, Kurtz I, Guo X, Rumbaugh M, Matsushita M, Girirajan S, Dorschner MO, Kiianitsa K, Yu CE, Brkanac Z, Garden GA, Raskind WH, Bird TD. Korvatska O, et al. Among authors: jayadev s. JAMA Neurol. 2015 Aug;72(8):920-7. doi: 10.1001/jamaneurol.2015.0979. JAMA Neurol. 2015. PMID: 26076170 Free PMC article.
Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.
Braggin JE, Bucks SA, Course MM, Smith CL, Sopher B, Osnis L, Shuey KD, Domoto-Reilly K, Caso C, Kinoshita C, Scherpelz KP, Cross C, Grabowski T, Nik SHM, Newman M, Garden GA, Leverenz JB, Tsuang D, Latimer C, Gonzalez-Cuyar LF, Keene CD, Morrison RS, Rhoads K, Wijsman EM, Dorschner MO, Lardelli M, Young JE, Valdmanis PN, Bird TD, Jayadev S. Braggin JE, et al. Among authors: jayadev s. Ann Clin Transl Neurol. 2019 Mar 10;6(4):762-777. doi: 10.1002/acn3.755. eCollection 2019 Apr. Ann Clin Transl Neurol. 2019. PMID: 31020001 Free PMC article.
205 results