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Page 1
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Schwartz O, et al. Among authors: kauffmann b. JAMA Pediatr. 2024 Apr 8:e240492. doi: 10.1001/jamapediatrics.2024.0492. Online ahead of print. JAMA Pediatr. 2024. PMID: 38587854
Frequency of an intrathecal IgM synthesis and MRZ reaction in children with MS.
Chen S, A B, Koukou G, Wendel EM, Thiels C, Baumann M, Lechner C, Blaschek A, Della Marina A, Classen G, Stüve B, Kauffmann B, Kapanci T, Mayer B, Otto M, Rostásy K. Chen S, et al. Among authors: kauffmann b. Eur J Paediatr Neurol. 2024 Apr 16;50:51-56. doi: 10.1016/j.ejpn.2024.04.005. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 38636242
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Blickhäuser B, Stenton SL, Neuhofer CM, Floride E, Nesbitt V, Fratter C, Koch J, Kauffmann B, Catarino C, Schlieben LD, Kopajtich R, Carelli V, Sadun AA, McFarland R, Fang F, La Morgia C, Paquay S, Nassogne MC, Ghezzi D, Lamperti C, Wortmann S, Poulton J, Klopstock T, Prokisch H. Blickhäuser B, et al. Among authors: kauffmann b. Brain. 2024 Mar 13:awae057. doi: 10.1093/brain/awae057. Online ahead of print. Brain. 2024. PMID: 38478578
Does Acinetobacter calcoaceticus glucose dehydrogenase produce self-damaging H2O2?
Lublin V, Kauffmann B, Engilberge S, Durola F, Gounel S, Bichon S, Jean C, Mano N, Giraud MF, Chavas L, Thureau A, Thompson A, Stines-Chaumeil C. Lublin V, et al. Among authors: kauffmann b. Biosci Rep. 2024 Apr 30:BSR20240102. doi: 10.1042/BSR20240102. Online ahead of print. Biosci Rep. 2024. PMID: 38687614
146 results