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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2015 1
2016 1
2017 3
2018 3
2019 3
2020 2
2021 2
2022 5
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17 results
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Page 1
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Gonorazky HD, et al. Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827497 Free PMC article.
The genetics of congenital myopathies.
Gonorazky HD, Bönnemann CG, Dowling JJ. Gonorazky HD, et al. Handb Clin Neurol. 2018;148:549-564. doi: 10.1016/B978-0-444-64076-5.00036-3. Handb Clin Neurol. 2018. PMID: 29478600 Review.
Signs and Symptoms in Congenital Myopathies.
Gonorazky HD, Dowling JJ, Volpatti JR, Vajsar J. Gonorazky HD, et al. Semin Pediatr Neurol. 2019 Apr;29:3-11. doi: 10.1016/j.spen.2019.01.002. Epub 2019 Jan 16. Semin Pediatr Neurol. 2019. PMID: 31060723 Review.
Biallelic LINE insertion mutation in HACD1 causing congenital myopathy.
Al Amrani F, Gorodetsky C, Hazrati LN, Amburgey K, Gonorazky HD, Dowling JJ. Al Amrani F, et al. Among authors: gonorazky hd. Neurol Genet. 2020 Apr 13;6(3):e423. doi: 10.1212/NXG.0000000000000423. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32426512 Free PMC article. No abstract available.
Natural history of a mouse model of X-linked myotubular myopathy.
Sarikaya E, Sabha N, Volpatti J, Pannia E, Maani N, Gonorazky HD, Celik A, Liang Y, Onofre-Oliveira P, Dowling JJ. Sarikaya E, et al. Among authors: gonorazky hd. Dis Model Mech. 2022 Jul 1;15(7):dmm049342. doi: 10.1242/dmm.049342. Epub 2022 Jul 25. Dis Model Mech. 2022. PMID: 35694952 Free PMC article.
Triple A syndrome presenting as complicated hereditary spastic paraplegia.
Leveille E, Gonorazky HD, Rioux MF, Hazrati LN, Ruskey JA, Carnevale A, Spiegelman D, Dionne-Laporte A, Rouleau GA, Yoon G, Gan-Or Z. Leveille E, et al. Among authors: gonorazky hd. Mol Genet Genomic Med. 2018 Nov;6(6):1134-1139. doi: 10.1002/mgg3.492. Epub 2018 Oct 31. Mol Genet Genomic Med. 2018. PMID: 30381913 Free PMC article.
Uniparental disomy unveils a novel recessive mutation in POMT2.
Brun BN, Willer T, Darbro BW, Gonorazky HD, Naumenko S, Dowling JJ, Campbell KP, Moore SA, Mathews KD. Brun BN, et al. Among authors: gonorazky hd. Neuromuscul Disord. 2018 Jul;28(7):592-596. doi: 10.1016/j.nmd.2018.04.003. Epub 2018 Apr 10. Neuromuscul Disord. 2018. PMID: 29759639 Free PMC article.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Gonorazky HD, et al. Am J Hum Genet. 2019 May 2;104(5):1007. doi: 10.1016/j.ajhg.2019.04.004. Am J Hum Genet. 2019. PMID: 31051109 Free PMC article. No abstract available.
Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era.
Al Amrani F, Amin R, Chiang J, Xiao L, Boyd J, Law E, Nigro E, Weinstock L, Stosic A, Gonorazky HD. Al Amrani F, et al. Among authors: gonorazky hd. Neurol Clin Pract. 2022 Aug;12(4):279-287. doi: 10.1212/CPJ.0000000000001179. Neurol Clin Pract. 2022. PMID: 36382115 Free PMC article.
17 results