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318 results

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Page 1
Hematologic abnormalities in Aicardi Goutières Syndrome.
Adang LA, Gavazzi F, D'Aiello R, Isaacs D, Bronner N, Arici ZS, Flores Z, Jan A, Scher C, Sherbini O, Behrens EM, Goldbach-Mansky R, Olson TS, Lambert MP, Sullivan KE, Teachey DT, Witmer C, Vanderver A, Shults J. Adang LA, et al. Among authors: shults j. Mol Genet Metab. 2022 Aug;136(4):324-329. doi: 10.1016/j.ymgme.2022.06.003. Epub 2022 Jun 16. Mol Genet Metab. 2022. PMID: 35786528 Free PMC article.
Developmental Outcomes of Aicardi Goutières Syndrome.
Adang L, Gavazzi F, De Simone M, Fazzi E, Galli J, Koh J, Kramer-Golinkoff J, De Giorgis V, Orcesi S, Peer K, Ulrick N, Woidill S, Shults J, Vanderver A. Adang L, et al. Among authors: shults j. J Child Neurol. 2020 Jan;35(1):7-16. doi: 10.1177/0883073819870944. Epub 2019 Sep 27. J Child Neurol. 2020. PMID: 31559893 Free PMC article.
Development of a neurologic severity scale for Aicardi Goutières Syndrome.
Adang LA, Gavazzi F, Jawad AF, Cusack SV, Kopin K, Peer K, Besnier C, De Simone M, De Giorgis V, Orcesi S, Fazzi E, Galli J, Shults J, Vanderver A. Adang LA, et al. Among authors: shults j. Mol Genet Metab. 2020 Jun;130(2):153-160. doi: 10.1016/j.ymgme.2020.03.008. Epub 2020 Apr 2. Mol Genet Metab. 2020. PMID: 32279991 Free PMC article.
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.
Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser JL, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ; LeukoSEQ Workgroup. Vanderver A, et al. Among authors: shults j. Ann Neurol. 2020 Aug;88(2):264-273. doi: 10.1002/ana.25757. Epub 2020 Jun 9. Ann Neurol. 2020. PMID: 32342562 Free PMC article. Clinical Trial.
Janus Kinase Inhibition in the Aicardi-Goutières Syndrome.
Vanderver A, Adang L, Gavazzi F, McDonald K, Helman G, Frank DB, Jaffe N, Yum SW, Collins A, Keller SR, Lebon P, Meritet JF, Rhee J, Takanohashi A, Armangue T, Ulrick N, Sherbini O, Koh J, Peer K, Besnier C, Scher C, Boyle K, Dubbs H, Kramer-Golinkoff J, Pizzino A, Woidill S, Shults J. Vanderver A, et al. Among authors: shults j. N Engl J Med. 2020 Sep 3;383(10):986-989. doi: 10.1056/NEJMc2001362. N Engl J Med. 2020. PMID: 32877590 Free PMC article. Clinical Trial. No abstract available.
Hepatic Involvement in Aicardi-Goutières Syndrome.
Gavazzi F, Cross ZM, Woidill S, McMann JM, Rand EB, Takanohashi A, Ulrick N, Shults J, Vanderver AL, Adang L. Gavazzi F, et al. Among authors: shults j. Neuropediatrics. 2021 Dec;52(6):441-447. doi: 10.1055/s-0040-1722673. Epub 2021 Jan 14. Neuropediatrics. 2021. PMID: 33445189 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33843299
Reliability of the Telemedicine Application of the Gross Motor Function Measure-88 in Patients With Leukodystrophy.
Gavazzi F, Adang L, Waldman A, Jan AK, Liu G, Lorch SA, DeMauro SB, Shults J, Pierce SR, Ballance E, Kornafel T, Harrington A, Glanzman AM, Vanderver A. Gavazzi F, et al. Among authors: shults j. Pediatr Neurol. 2021 Dec;125:34-39. doi: 10.1016/j.pediatrneurol.2021.09.012. Epub 2021 Sep 24. Pediatr Neurol. 2021. PMID: 34624609 Free PMC article.
Corrigendum to "Development of a neurologic severity scale for Aicardi Goutières Syndrome" [Mol Genet Metab. 2020 Jun;130(2):153-160. PMID: 32279991].
Adang LA, Gavazzi F, Jawad AF, Cusack SV, Kopin K, Peer K, Besnier C, De Simone M, De Giorgis V, Orcesi S, Fazzi E, Galli J, Shults J, Vanderver A. Adang LA, et al. Among authors: shults j. Mol Genet Metab. 2022 May;136(1):81. doi: 10.1016/j.ymgme.2022.03.010. Epub 2022 Apr 11. Mol Genet Metab. 2022. PMID: 35422341 No abstract available.
318 results