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Page 1
Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study.
Veldhoen ES, Wijngaarde CA, van Eijk RPA, Asselman FL, Seddiqi N, Otto LAM, Stam M, Cuppen I, Wadman RI, van Asperen RMW, Hulzebos EHJ, van den Oudenrijn LPV, Bartels B, Boezer J, Gaytant M, van der Ent CK, van der Pol WL. Veldhoen ES, et al. Among authors: cuppen i. Orphanet J Rare Dis. 2023 Feb 23;18(1):40. doi: 10.1186/s13023-023-02634-4. Orphanet J Rare Dis. 2023. PMID: 36823666 Free PMC article.
ALG11-CDG: Three novel mutations and further characterization of the phenotype.
Regal L, van Hasselt PM, Foulquier F, Cuppen I, Prinsen H, Jansen K, Keldermans L, De Meirleir L, Matthijs G, Jaeken J. Regal L, et al. Among authors: cuppen i. Mol Genet Metab Rep. 2014 Nov 25;2:16-19. doi: 10.1016/j.ymgmr.2014.11.006. eCollection 2015 Mar. Mol Genet Metab Rep. 2014. PMID: 28649519 Free PMC article.
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
Zou F, McWalter K, Schmidt L, Decker A, Picker JD, Lincoln S, Sweetser DA, Briere LC, Harini C; Members of the Undiagnosed Diseases Network; Marsh E, Medne L, Wang RY, Leydiker K, Mower A, Visser G, Cuppen I, van Gassen KL, van der Smagt J, Yousaf A, Tennison M, Shanmugham A, Butler E, Richard G, McKnight D. Zou F, et al. Among authors: cuppen i. J Neurogenet. 2017 Mar-Jun;31(1-2):30-36. doi: 10.1080/01677063.2017.1315417. Epub 2017 May 2. J Neurogenet. 2017. PMID: 28460589 Free PMC article.
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Woldegebriel R, Kvist J, Andersson N, Õunap K, Reinson K, Wojcik MH, Bijlsma EK, Hoffer MJV, Ryan MM, Stark Z, Walsh M, Cuppen I, van den Boogaard MH, Bharucha-Goebel D, Donkervoort S, Winchester S, Zori R, Bönnemann CG, Maroofian R, O'Connor E, Houlden H, Zhao F, Carpén O, White M, Sreedharan J, Stewart M, Ylikallio E, Tyynismaa H. Woldegebriel R, et al. Among authors: cuppen i. Hum Mol Genet. 2020 Jun 3;29(9):1426-1439. doi: 10.1093/hmg/ddaa051. Hum Mol Genet. 2020. PMID: 32202298 Free PMC article.
Protocol for a phase II, monocentre, double-blind, placebo-controlled, cross-over trial to assess efficacy of pyridostigmine in patients with spinal muscular atrophy types 2-4 (SPACE trial).
Stam M, Wadman RI, Wijngaarde CA, Bartels B, Asselman FL, Otto LAM, Goedee HS, Habets LE, de Groot JF, Schoenmakers MAGC, Cuppen I, van den Berg LH, van der Pol WL. Stam M, et al. Among authors: cuppen i. BMJ Open. 2018 Jul 30;8(7):e019932. doi: 10.1136/bmjopen-2017-019932. BMJ Open. 2018. PMID: 30061431 Free PMC article.
Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.
Aragon-Gawinska K, Seferian AM, Daron A, Gargaun E, Vuillerot C, Cances C, Ropars J, Chouchane M, Cuppen I, Hughes I, Illingworth M, Marini-Bettolo C, Rambaud J, Taytard J, Annoussamy M, Scoto M, Gidaro T, Servais L. Aragon-Gawinska K, et al. Among authors: cuppen i. Neurology. 2018 Oct 2;91(14):e1312-e1318. doi: 10.1212/WNL.0000000000006281. Epub 2018 Aug 29. Neurology. 2018. PMID: 30158155 Clinical Trial.
Natural course of scoliosis and lifetime risk of scoliosis surgery in spinal muscular atrophy.
Wijngaarde CA, Brink RC, de Kort FAS, Stam M, Otto LAM, Asselman FL, Bartels B, van Eijk RPA, Sombroek J, Cuppen I, Verhoef M, van den Berg LH, Wadman RI, Castelein RM, van der Pol WL. Wijngaarde CA, et al. Among authors: cuppen i. Neurology. 2019 Jul 9;93(2):e149-e158. doi: 10.1212/WNL.0000000000007742. Epub 2019 Jun 4. Neurology. 2019. PMID: 31164393
Bulbar Problems Self-Reported by Children and Adults with Spinal Muscular Atrophy.
van der Heul AMB, Wijngaarde CA, Wadman RI, Asselman F, van den Aardweg MTA, Bartels B, Cuppen I, Gerrits E, van den Berg LH, van der Pol WL, van den Engel-Hoek L. van der Heul AMB, et al. Among authors: cuppen i. J Neuromuscul Dis. 2019;6(3):361-368. doi: 10.3233/JND-190379. J Neuromuscul Dis. 2019. PMID: 31476167
52 results