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Page 1
Neurologic complications in herpes simplex encephalitis: clinical, immunological and genetic studies.
Armangué T, Olivé-Cirera G, Martínez-Hernandez E, Rodes M, Peris-Sempere V, Guasp M, Ruiz R, Palou E, González A, Marcos MÁ, Erro ME, Bataller L, Corral-Corral Í, Planagumà J, Caballero E, Vlagea A, Chen J, Bastard P, Materna M, Marchal A, Abel L, Cobat A, Alsina L, Fortuny C, Saiz A, Mignot E, Vanderver A, Casanova JL, Zhang SY, Dalmau J. Armangué T, et al. Among authors: vanderver a. Brain. 2023 Oct 3;146(10):4306-4319. doi: 10.1093/brain/awad238. Brain. 2023. PMID: 37453099
Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.
Gavazzi F, Glanzman AM, Woidill S, Formanowski B, Dixit A, Isaacs D, Kornafel T, Ballance E, Pierce SR, Modesti N, Barcelos I, Cusack SV, Jan AK, Flores Z, Sherbini O, Vincent A, D'Aiello R, Lorch SA, DeMauro SB, Jawad A, Vanderver A, Adang L. Gavazzi F, et al. Among authors: vanderver a. J Child Neurol. 2023 Aug;38(8-9):518-527. doi: 10.1177/08830738231188753. Epub 2023 Jul 27. J Child Neurol. 2023. PMID: 37499181 Free PMC article.
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;39(3-4):147-154. doi: 10.1177/08830738241241786. Epub 2024 Mar 27. J Child Neurol. 2024. PMID: 38532733 Free PMC article.
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
Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy.
Al-Saady M, Beerepoot S, Plug BC, Breur M, Galabova H, Pouwels PJW, Boelens JJ, Lindemans C, van Hasselt PM, Matzner U, Vanderver A, Bugiani M, van der Knaap MS, Wolf NI. Al-Saady M, et al. Among authors: vanderver a. Ann Clin Transl Neurol. 2023 Jul;10(7):1146-1159. doi: 10.1002/acn3.51796. Epub 2023 May 22. Ann Clin Transl Neurol. 2023. PMID: 37212343 Free PMC article.
Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A.
Almad AA, Garcia L, Takanohashi A, Gagne A, Yang W, Ann McGuire J, French D, Vanderver A. Almad AA, et al. Among authors: vanderver a. Stem Cell Res. 2023 Jun;69:103083. doi: 10.1016/j.scr.2023.103083. Epub 2023 Mar 26. Stem Cell Res. 2023. PMID: 37003180 Free article.
Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey.
Macaluso M, Rothenberg ME, Ferkol T, Kuhnell P, Kaminski HJ, Kimberlin DW, Benatar M, Chehade M; Principal Investigators of the Rare Diseases Clinical Research Network – Cycle 4. Macaluso M, et al. JMIR Public Health Surveill. 2024 Feb 14;10:e48430. doi: 10.2196/48430. JMIR Public Health Surveill. 2024. PMID: 38354030 Free PMC article.
Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1.
Garcia L, Gonzalez CD, Gagne A, McGuire JA, French D, Takanohashi A, Almad A, Vanderver A, Sase S. Garcia L, et al. Among authors: vanderver a. Stem Cell Res. 2024 Feb;74:103299. doi: 10.1016/j.scr.2023.103299. Epub 2023 Dec 28. Stem Cell Res. 2024. PMID: 38181636 Free PMC article.
252 results