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Year Number of Results
2006 2
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Page 1
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, Kraatari-Tiri M, Piard J, Coubes C, Lam W, Lynch SA, Groeschel S, Ramond F, Fluss J, Fagerberg C, Brasch Andersen C, Varvagiannis K, Kleefstra T, Gérard B, Fradin M, Vitobello A, Tenconi R, Denommé-Pichon AS, Vincent-Devulder A, Haack T, Marsh JA, Laulund LW, Grimmel M, Riess A, de Boer E, Padilla-Lopez S, Bakhtiari S, Ostendorf A, Zweier C, Smol T, Willems M, Faivre L, Scala M, Striano P, Bagnasco I, Koboldt D, Iascone M, Suerink M, Kruer MC, Levy J, Verloes A, Abbott CM, Ruaud L. Paulet A, et al. Among authors: groeschel s. Eur J Hum Genet. 2024 Apr 3. doi: 10.1038/s41431-024-01606-x. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38565641 No abstract available.
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Laugwitz L, Schoenmakers DH, Adang LA, Beck-Woedl S, Bergner C, Bernard G, Bley A, Boyer A, Calbi V, Dekker H, Eichler F, Eklund E, Fumagalli F, Gavazzi F, Grønborg SW, van Hasselt P, Langeveld M, Lindemans C, Mochel F, Oberg A, Ram D, Saunier-Vivar E, Schöls L, Scholz M, Sevin C, Zerem A, Wolf NI, Groeschel S. Laugwitz L, et al. Among authors: groeschel s. Eur J Paediatr Neurol. 2024 Mar 9;49:141-154. doi: 10.1016/j.ejpn.2024.03.003. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 38554683
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, Kraatari-Tiri M, Piard J, Coubes C, Lam W, Lynch SA, Groeschel S, Ramond F, Fluss J, Fagerberg C, Brasch Andersen C, Varvagiannis K, Kleefstra T, Gérard B, Fradin M, Vitobello A, Tenconi R, Denommé-Pichon AS, Vincent-Devulder A, Haack T, Marsh JA, Laulund LW, Grimmel M, Riess A, de Boer E, Padilla-Lopez S, Bakhtiari S, Ostendorf A, Zweier C, Smol T, Willems M, Faivre L, Scala M, Striano P, Bagnasco I, Koboldt D, Iascone M, Suerink M, Kruer MC, Levy J, Verloes A, Abbott CM, Ruaud L. Paulet A, et al. Among authors: groeschel s. Eur J Hum Genet. 2024 Feb 15. doi: 10.1038/s41431-024-01560-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38355961
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
Schoenmakers DH, Mochel F, Adang LA, Boelens JJ, Calbi V, Eklund EA, Grønborg SW, Fumagalli F, Groeschel S, Lindemans C, Sevin C, Schöls L, Ram D, Zerem A, Graessner H, Wolf NI. Schoenmakers DH, et al. Among authors: groeschel s. Orphanet J Rare Dis. 2024 Feb 7;19(1):46. doi: 10.1186/s13023-024-03075-3. Orphanet J Rare Dis. 2024. PMID: 38326898 Free PMC article.
Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy.
Farah MH, Dali CÍ, Groeschel S, Moldovan M, Whiteman DAH, Malanga CJ, Krägeloh-Mann I, Li J, Barton N, Krarup C. Farah MH, et al. Among authors: groeschel s. Ann Clin Transl Neurol. 2024 Feb;11(2):328-341. doi: 10.1002/acn3.51954. Epub 2023 Dec 26. Ann Clin Transl Neurol. 2024. PMID: 38146590 Free PMC article. Clinical Trial.
Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy.
Amedick LB, Martin P, Beschle J, Strölin M, Wilke M, Wolf N, Pouwels P, Hagberg G, Klose U, Naegele T, Kraegeloh-Mann I, Groeschel S. Amedick LB, et al. Among authors: groeschel s. Neuropediatrics. 2023 Aug;54(4):244-252. doi: 10.1055/a-2073-4178. Epub 2023 Apr 13. Neuropediatrics. 2023. PMID: 37054976 Free PMC article.
73 results