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51 results

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Page 1
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: della marina a. 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
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. JAMA Pediatr. 2024 Apr 8:e240492. doi: 10.1001/jamapediatrics.2024.0492. Online ahead of print. JAMA Pediatr. 2024. PMID: 38587854
PEDIATRIC COMMUNITY-ACQUIRED BRAIN ABSCESSES: A Single-center Retrospective Study.
Lu KH, Bruns N, Pentek C, Della Marina A, Gangfuß A, Kölbel H, Dogan B, Dziobaka J, Ahmadipour Y, Damman P, Felderhoff-Müser U, Dohna-Schwake C, Goretzki SC. Lu KH, et al. Among authors: della marina a. Pediatr Infect Dis J. 2024 Mar 5. doi: 10.1097/INF.0000000000004308. Online ahead of print. Pediatr Infect Dis J. 2024. PMID: 38451881
Guideline for the management of myasthenic syndromes.
Wiendl H, Abicht A, Chan A, Della Marina A, Hagenacker T, Hekmat K, Hoffmann S, Hoffmann HS, Jander S, Keller C, Marx A, Melms A, Melzer N, Müller-Felber W, Pawlitzki M, Rückert JC, Schneider-Gold C, Schoser B, Schreiner B, Schroeter M, Schubert B, Sieb JP, Zimprich F, Meisel A. Wiendl H, et al. Among authors: della marina a. Ther Adv Neurol Disord. 2023 Dec 26;16:17562864231213240. doi: 10.1177/17562864231213240. eCollection 2023. Ther Adv Neurol Disord. 2023. PMID: 38152089 Free PMC article. Review.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmannd S. Vogel GF, et al. Among authors: della marina a. Genet Med. 2023 Jun;25(6):100828. doi: 10.1016/j.gim.2023.100828. Epub 2023 Apr 13. Genet Med. 2023. PMID: 37272928 Free article. No abstract available.
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H. Roos A, et al. Among authors: della marina a. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662 Free PMC article.
[Myasthenia in adults, children, and adolescents: what's new?].
Stascheit F, Della Marina A, Meisel A. Stascheit F, et al. Among authors: della marina a. Nervenarzt. 2023 Jun;94(6):501-509. doi: 10.1007/s00115-023-01463-x. Epub 2023 Mar 30. Nervenarzt. 2023. PMID: 36995386 Review. German.
Giant Cavernous Malformation Mimicking an Infiltrative Intracranial Neoplasm in Children-Case Report and Systematic Review of the Literature.
González-Gallardo E, Rauschenbach L, Santos AN, Riess C, Li Y, Tippelt S, Della Marina A, Dohna-Schwake C, Sure U, Dammann P. González-Gallardo E, et al. Among authors: della marina a. World Neurosurg. 2023 Jun;174:30-41. doi: 10.1016/j.wneu.2023.02.135. Epub 2023 Mar 6. World Neurosurg. 2023. PMID: 36889633 Review.
51 results