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

Year Number of Results
1993 4
2005 2
2007 1
2008 5
2009 3
2010 4
2011 7
2012 11
2013 14
2014 22
2015 17
2016 17
2017 19
2018 16
2019 14
2020 28
2021 31
2022 27
2023 29
2024 22

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250 results

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Page 1
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A. Adang LA, et al. Among authors: vanderver a. Cytotherapy. 2024 Apr 1:S1465-3249(24)00579-6. doi: 10.1016/j.jcyt.2024.03.487. Online ahead of print. Cytotherapy. 2024. PMID: 38613540
Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations.
Tricoli L, Sase S, Hacker J, Pham V, Smith S, Chappell M, Breda L, Hurwitz S, Tanaka N, Castracani CC, Guerra A, Hou Z, Schlotawa L, Radhakrishnan K, Kurre P, Ahrens-Nicklas R, Adang L, Vanderver A, Rivella S. Tricoli L, et al. Among authors: vanderver a. bioRxiv [Preprint]. 2024 Mar 14:2024.03.14.584404. doi: 10.1101/2024.03.14.584404. bioRxiv. 2024. PMID: 38559013 Free PMC article. Preprint.
Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome.
Cusack SV, Gavazzi F, de Barcelos IP, Modesti NB, Woidill S, Formanowski B, DeMauro SB, Lorch S, Vincent A, Jawad AF, Estilow T, Glanzman AM, Vanderver A, Adang LA. Cusack SV, et al. Among authors: vanderver a. J Child Neurol. 2024 Mar 27:8830738241241786. doi: 10.1177/08830738241241786. Online ahead of print. J Child Neurol. 2024. PMID: 38532733
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
Adang LA, Sevagamoorthy A, Sherbini O, Fraser JL, Bonkowsky JL, Gavazzi F, D'Aiello R, Modesti NB, Yu E, Mutua S, Kotes E, Shults J, Vincent A, Emrick LT, Keller S, Van Haren KP, Woidill S, Barcelos I, Pizzino A, Schmidt JL, Eichler F, Fatemi A, Vanderver A. Adang LA, et al. Among authors: vanderver a. Mol Genet Metab. 2024 May;142(1):108453. doi: 10.1016/j.ymgme.2024.108453. Epub 2024 Mar 18. Mol Genet Metab. 2024. PMID: 38522179 Review.
Nucleotide metabolism, leukodystrophies, and CNS pathology.
Gavazzi F, Gonzalez CD, Arnold K, Swantkowski M, Charlton L, Modesti N, Dar AA, Vanderver A, Bennett M, Adang LA. Gavazzi F, et al. Among authors: vanderver a. J Inherit Metab Dis. 2024 Feb 29. doi: 10.1002/jimd.12721. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38421058
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
250 results