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Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
Ruhno C, McGovern VL, Avenarius MR, Snyder PJ, Prior TW, Nery FC, Muhtaseb A, Roggenbuck JS, Kissel JT, Sansone VA, Siranosian JJ, Johnstone AJ, Nwe PH, Zhang RZ, Swoboda KJ, Burghes AHM. Ruhno C, et al. Among authors: johnstone aj. Hum Genet. 2019 Mar;138(3):241-256. doi: 10.1007/s00439-019-01983-0. Epub 2019 Feb 20. Hum Genet. 2019. PMID: 30788592 Free PMC article.
Impaired kidney structure and function in spinal muscular atrophy.
Nery FC, Siranosian JJ, Rosales I, Deguise MO, Sharma A, Muhtaseb AW, Nwe P, Johnstone AJ, Zhang R, Fatouraei M, Huemer N, Alves CRR, Kothary R, Swoboda KJ. Nery FC, et al. Among authors: johnstone aj. Neurol Genet. 2019 Aug 12;5(5):e353. doi: 10.1212/NXG.0000000000000353. eCollection 2019 Oct. Neurol Genet. 2019. PMID: 31517062 Free PMC article.
Whole-blood dysregulation of actin-cytoskeleton pathway in adult spinal muscular atrophy patients.
Siranosian JJ, Nery FC, Alves CRR, Siranosian BA, Lyons NJ, Eichelberger EJ, Garner R, Da Silva Duarte Lepez S, Johnstone AJ, Subramanian A, Swoboda KJ. Siranosian JJ, et al. Among authors: johnstone aj. Ann Clin Transl Neurol. 2020 Jul;7(7):1158-1165. doi: 10.1002/acn3.51092. Epub 2020 Jun 17. Ann Clin Transl Neurol. 2020. PMID: 32558393 Free PMC article.
Postfasciotomy Classification System for Acute Compartment Syndrome of the Leg.
Bouklouch Y, Bernstein M, Bosse M, Cota A, Duckworth AD, Dunbar RP, Gamulin A, Guy P, Hak DJ, Haller JM, Hayda R, Jarragh A, Johnstone AJ, Karunakar M, Lawendy AR, Leighton R, Mavrogenis AF, Mauffrey C, Miclau T, Obremskey WT, Renninger C, Sanders DW, Schmidt AH, Schneider P, Sen MK, Taitsman L, Van Lancker H, Harvey EJ. Bouklouch Y, et al. Among authors: johnstone aj. J Orthop Trauma. 2023 Nov 1;37(11):581-585. doi: 10.1097/BOT.0000000000002663. J Orthop Trauma. 2023. PMID: 37491711
In reply to the letter to the editor regarding "Comparison of a twin interlocking derotation and compression screw cephalomedullary nail (InterTAN) with a single screw derotation cephalomedullary nail (proximal femoral nail antirotation): a systematic review and meta-analysis for intertrochanteric fractures".
Nherera L, Trueman P, Horner A, Watson T, Johnstone AJ. Nherera L, et al. Among authors: johnstone aj. J Orthop Surg Res. 2022 Jul 16;17(1):354. doi: 10.1186/s13018-022-03244-9. J Orthop Surg Res. 2022. PMID: 35842668 Free PMC article.
Determining Ischaemic Thresholds Through Our Understanding of Cellular Metabolism.
Johnstone AJ, Ball D. Johnstone AJ, et al. 2019 Sep 3. In: Mauffrey C, Hak DJ, Martin III MP, editors. Compartment Syndrome: A Guide to Diagnosis and Management [Internet]. Cham (CH): Springer; 2019. Chapter 4. 2019 Sep 3. In: Mauffrey C, Hak DJ, Martin III MP, editors. Compartment Syndrome: A Guide to Diagnosis and Management [Internet]. Cham (CH): Springer; 2019. Chapter 4. PMID: 32091739 Free Books & Documents. Review.
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