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

Year Number of Results
1988 1
1993 2
1994 2
1995 1
1997 1
1999 1
2000 2
2001 2
2002 3
2003 3
2004 1
2005 2
2006 2
2007 2
2009 1
2011 1
2012 4
2013 3
2014 4
2015 3
2016 3
2017 2
2019 1
2021 1
2022 2
2023 1
2025 0

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43 results

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Page 1
Neonatal hypotonia.
Sparks SE. Sparks SE. Clin Perinatol. 2015 Jun;42(2):363-71, ix. doi: 10.1016/j.clp.2015.02.008. Clin Perinatol. 2015. PMID: 26042909 Review.
Eteplirsen for the treatment of Duchenne muscular dystrophy.
Mendell JR, Rodino-Klapac LR, Sahenk Z, Roush K, Bird L, Lowes LP, Alfano L, Gomez AM, Lewis S, Kota J, Malik V, Shontz K, Walker CM, Flanigan KM, Corridore M, Kean JR, Allen HD, Shilling C, Melia KR, Sazani P, Saoud JB, Kaye EM; Eteplirsen Study Group. Mendell JR, et al. Ann Neurol. 2013 Nov;74(5):637-47. doi: 10.1002/ana.23982. Epub 2013 Sep 10. Ann Neurol. 2013. PMID: 23907995 Free article. Clinical Trial.
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview.
Sparks SE, Krasnewich DM. Sparks SE, et al. 2005 Aug 15 [updated 2017 Jan 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2005 Aug 15 [updated 2017 Jan 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301507 Free Books & Documents. Review.
Congenital muscular dystrophies.
Sparks SE, Escolar DM. Sparks SE, et al. Handb Clin Neurol. 2011;101:47-79. doi: 10.1016/B978-0-08-045031-5.00004-9. Handb Clin Neurol. 2011. PMID: 21496624 Review.
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
Duong T, Kishnani PS, An Haack K, Foster MC, Gibson JB, Wilson C, Hahn SH, Hillman R, Kronn D, Leslie ND, Peña LDM, Sparks SE, Stockton DW, Tanpaiboon P, Day JW; Pompe ADVANCE Study Consortium. Duong T, et al. Among authors: sparks se. J Neuromuscul Dis. 2022;9(6):713-730. doi: 10.3233/JND-210784. J Neuromuscul Dis. 2022. PMID: 36214004 Free PMC article.
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
Byrne BJ, Colan SD, Kishnani PS, Foster MC, Sparks SE, Gibson JB, An Haack K, Stockton DW, Peña LDM, Hahn SH, Johnson J, Tanpaiboon PX, Leslie ND, Kronn D, Hillman RE, Wang RY; Pompe ADVANCE Study Consortium. Byrne BJ, et al. Among authors: sparks se. Cardiol Young. 2022 Mar;32(3):364-373. doi: 10.1017/S1047951121002079. Epub 2021 Aug 23. Cardiol Young. 2022. PMID: 34420548 Clinical Trial.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics; Matthijs G, Freeze HH. Ng BG, et al. Among authors: sparks se. Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26931382 Free PMC article.
Inherited disorders of glycosylation.
Sparks SE. Sparks SE. Mol Genet Metab. 2006 Jan;87(1):1-7. doi: 10.1016/j.ymgme.2005.11.004. Mol Genet Metab. 2006. PMID: 16511948 Review. No abstract available.
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
Wassif CA, Kratz L, Sparks SE, Wheeler C, Bianconi S, Gropman A, Calis KA, Kelley RI, Tierney E, Porter FD. Wassif CA, et al. Among authors: sparks se. Genet Med. 2017 Mar;19(3):297-305. doi: 10.1038/gim.2016.102. Epub 2016 Aug 11. Genet Med. 2017. PMID: 27513191 Free PMC article. Clinical Trial.
Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study.
Dimachkie MM, Kishnani PS, Ivanescu C, Flore G, Gwaltney C, van der Beek NAME, Hamed A, An Haack K, Pollissard L, Baranowski E, Sparks SE, DasMahapatra P; for COMET Study Group. Dimachkie MM, et al. Among authors: sparks se. Neurol Clin Pract. 2023 Oct;13(5):e200181. doi: 10.1212/CPJ.0000000000200181. Epub 2023 Aug 8. Neurol Clin Pract. 2023. PMID: 37559825 Free PMC article.
43 results