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Page 1
Further delineation of the SCAF4-associated neurodevelopmental disorder.
Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, McNiven V, Dupuis L, Steindl K, Begemann A, Rauch A, Suter AA, Isidor B, Mercier S, Nizon M, Cogné B, Deb W, Besnard T, Haack TB, Falb RJ, Müller AJ, Linden T, Haldeman-Englert CR, Ockeloen CW, Mattioli F, Reymond A, Ibrahim N, Naz S, Lacaze E, Bassetti JA, Hoefele J, Brunet T, Riedhammer KM, Elloumi HZ, Person R, Zou F, Kahle JJ, Cremer K, Schmidt A, Delrue MA, Almeida PM, Ramos F, Srivastava S, Quinlan A, Robertson S, Manka E, Kuechler A, Spranger S, Nowaczyk MJM, Elshafie RM, Alsharhan H, Hillman PR, Dunnington LA, Braakman HMH, McKee S, Moresco A, Ignat AD, Newbury-Ecob R, Banneau G, Patat O, Kuerbitz J, Rzucidlo S, Sell SS, Gordon P, Schuhmann S, Reis A, Halleb Y, Stoeva R, Keren B, Al Masseri Z, Tümer Z, Hammer-Hansen S, Krüger Sølyst S, Steigerwald CG, Abreu NJ, Faust H, Müller-Nedebock A, Tran Mau-Them F, Sticht H, Zweier C. Schmid CM, et al. Among authors: steigerwald cg. Eur J Hum Genet. 2024 Dec 12. doi: 10.1038/s41431-024-01760-2. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39668183
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.
Stoupa A, Franca MM, Abdulhadi-Atwan M, Fujisawa H, Korwutthikulrangsri M, Marchand I, Polak G, Beltrand J, Polak M, Kariyawasam D, Liao XH, Raimondi C, Steigerwald C, Abreu NJ, Bauer AJ, Carré A, Taneja C, Mekhoubad AB, Dumitrescu AM. Stoupa A, et al. Genet Med. 2024 Dec;26(12):101280. doi: 10.1016/j.gim.2024.101280. Epub 2024 Sep 21. Genet Med. 2024. PMID: 39315526 Free article.
Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings.
O'Neill KA, Dugue A, Abreu NJ, Balcer LJ, Branche M, Galetta S, Graves J, Kister I, Magro C, Miller C, Newsome SD, Pappas J, Rucker J, Steigerwald C, William CM, Zamvil SS, Grossman SN, Krupp LB. O'Neill KA, et al. Neurol Neuroimmunol Neuroinflamm. 2024 Mar;11(2):e200194. doi: 10.1212/NXI.0000000000200194. Epub 2024 Jan 5. Neurol Neuroimmunol Neuroinflamm. 2024. PMID: 38181317 Free PMC article.