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1996 4
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Page 1
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.
Jurkute N, Brennenstuhl H, Kustermann M, Van Haute L, Mutti CD, Bugiardini E, Handa T, Shimura M, Petzold A, Acheson J, Robson AG, Macken WL, Hanna MG, Pitceathly RDS, Merve A, Kotzaeridou U, Kölker S, Freilinger M, Erdler M, Bittner RE, Mayr JA, Okazaki Y, Murayama K, Prokisch H, Webster AR, Minczuk M, Arno G, Pemp B, Hoffmann GF, Schmidt WM, Yu-Wai-Man P. Jurkute N, et al. Among authors: freilinger m. Invest Ophthalmol Vis Sci. 2025 Jun 2;66(6):17. doi: 10.1167/iovs.66.6.17. Invest Ophthalmol Vis Sci. 2025. PMID: 40465263 Free PMC article.
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.
Bader I, Freilinger M, Landauer F, Waldmüller S, Mueller-Felber W, Rauscher C, Sperl W, Bittner RE, Schmidt WM, Mayr JA. Bader I, et al. Among authors: freilinger m. Orphanet J Rare Dis. 2022 Jul 19;17(1):279. doi: 10.1186/s13023-022-02421-7. Orphanet J Rare Dis. 2022. PMID: 35854315 Free PMC article. Review.
Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathy.
De Simoni D, Ricken G, Winklehner M, Koneczny I, Karenfort M, Hustedt U, Seidel U, Abdel-Mannan O, Munot P, Rinaldi S, Steen C, Freilinger M, Breu M, Seidl R, Reindl M, Wanschitz J, Lleixà C, Bernert G, Wandinger KP, Junker R, Querol L, Leypoldt F, Rostásy K, Höftberger R. De Simoni D, et al. Among authors: freilinger m. Neurol Neuroimmunol Neuroinflamm. 2020 Jun 2;7(4):e763. doi: 10.1212/NXI.0000000000000763. Print 2020 Jul. Neurol Neuroimmunol Neuroinflamm. 2020. PMID: 32487720 Free PMC article. No abstract available.
Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome.
Wendel EM, Thonke HS, Bertolini A, Baumann M, Blaschek A, Merkenschlager A, Karenfort M, Kornek B, Lechner C, Pohl D, Pritsch M, Schanda K, Schimmel M, Thiels C, Waltz S, Wiegand G, Anlar B, Barisic N, Blank C, Breu M, Broser P, Della Marina A, Diepold K, Eckenweiler M, Eisenkölbl A, Freilinger M, Gruber-Sedlmayr U, Hackenberg A, Iff T, Knierim E, Koch J, Kutschke G, Leiz S, Lischetzki G, Nosadini M, Pschibul A, Reiter-Fink E, Rohrbach D, Salandin M, Sartori S, Schlump JU, Stoffels J, Strautmanis J, Tibussek D, Tüngler V, Utzig N, Reindl M, Rostásy K; BIOMARKER Study Group. Wendel EM, et al. Among authors: freilinger m. Neurol Neuroimmunol Neuroinflamm. 2022 Oct 13;9(6):e200035. doi: 10.1212/NXI.0000000000200035. Print 2022 Nov. Neurol Neuroimmunol Neuroinflamm. 2022. PMID: 36229191 Free PMC article.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group. Serpieri V, et al. Among authors: freilinger m. J Med Genet. 2022 Sep;59(9):888-894. doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21. J Med Genet. 2022. PMID: 34675124 Free PMC article.
52 results