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Page 1
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.
Perrier S, Gauquelin L, Fallet-Bianco C, Dishop MK, Michell-Robinson MA, Tran LT, Guerrero K, Darbelli L, Srour M, Petrecca K, Renaud DL, Saito M, Cohen S, Leiz S, Alhaddad B, Haack TB, Tejera-Martin I, Monton FI, Rodriguez-Espinosa N, Pohl D, Nageswaran S, Grefe A, Glamuzina E, Bernard G. Perrier S, et al. Among authors: leiz s. Neurol Genet. 2020 May 11;6(3):e425. doi: 10.1212/NXG.0000000000000425. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32582862 Free PMC article.
CAD mutations and uridine-responsive epileptic encephalopathy.
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB. Koch J, et al. Among authors: leiz s. Brain. 2017 Feb;140(2):279-286. doi: 10.1093/brain/aww300. Epub 2016 Dec 21. Brain. 2017. PMID: 28007989
MRI of the first event in pediatric acquired demyelinating syndromes with antibodies to myelin oligodendrocyte glycoprotein.
Baumann M, Grams A, Djurdjevic T, Wendel EM, Lechner C, Behring B, Blaschek A, Diepold K, Eisenkölbl A, Fluss J, Karenfort M, Koch J, Konuşkan B, Leiz S, Merkenschlager A, Pohl D, Schimmel M, Thiels C, Kornek B, Schanda K, Reindl M, Rostásy K. Baumann M, et al. Among authors: leiz s. J Neurol. 2018 Apr;265(4):845-855. doi: 10.1007/s00415-018-8781-3. Epub 2018 Feb 8. J Neurol. 2018. PMID: 29423614
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T, Jech R, Brugger M, Kovacs R, Alhaddad B, Leszinski G, Riedhammer KM, Westphal DS, Mahle I, Mayerhanser K, Skorvanek M, Weber S, Graf E, Berutti R, Necpál J, Havránková P, Pavelekova P, Hempel M, Kotzaeridou U, Hoffmann GF, Leiz S, Makowski C, Roser T, Schroeder SA, Steinfeld R, Strobl-Wildemann G, Hoefele J, Borggraefe I, Distelmaier F, Strom TM, Winkelmann J, Meitinger T, Zech M, Wagner M. Brunet T, et al. Among authors: leiz s. Clin Genet. 2021 Jul;100(1):14-28. doi: 10.1111/cge.13946. Epub 2021 Mar 1. Clin Genet. 2021. PMID: 33619735
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Laugwitz L, Seibt A, Herebian D, Peralta S, Kienzle I, Buchert R, Falb R, Gauck D, Müller A, Grimmel M, Beck-Woedel S, Kern J, Daliri K, Katibeh P, Danhauser K, Leiz S, Alesi V, Baertling F, Vasco G, Steinfeld R, Wagner M, Caglayan AO, Gumus H, Burmeister M, Mayatepek E, Martinelli D, Tamhankar PM, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Groeschel S, Krägeloh-Mann I, Haack TB, Distelmaier F. Laugwitz L, et al. Among authors: leiz s. J Med Genet. 2022 Sep;59(9):878-887. doi: 10.1136/jmedgenet-2021-107729. Epub 2021 Oct 16. J Med Genet. 2022. PMID: 34656997 Free PMC article.
Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease.
Lechner C, Baumann M, Hennes EM, Schanda K, Marquard K, Karenfort M, Leiz S, Pohl D, Venkateswaran S, Pritsch M, Koch J, Schimmel M, Häusler M, Klein A, Blaschek A, Thiels C, Lücke T, Gruber-Sedlmayr U, Kornek B, Hahn A, Leypoldt F, Sandrieser T, Gallwitz H, Stoffels J, Korenke C, Reindl M, Rostásy K. Lechner C, et al. Among authors: leiz s. J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):897-905. doi: 10.1136/jnnp-2015-311743. Epub 2015 Dec 8. J Neurol Neurosurg Psychiatry. 2016. PMID: 26645082
De novo GABRG2 mutations associated with epileptic encephalopathies.
Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, Macdonald RL. Shen D, et al. Among authors: leiz s. Brain. 2017 Jan;140(1):49-67. doi: 10.1093/brain/aww272. Epub 2016 Nov 17. Brain. 2017. PMID: 27864268 Free PMC article.
MR imaging in children with transverse myelitis and acquired demyelinating syndromes.
El Naggar I, Cleaveland R, Wendel EM, Bertolini A, Schanda K, Karenfort M, Thiels C, Della Marina A, Schimmel M, Leiz S, Lechner C, Baumann M, Reindl M, Wegener-Panzer A, Rostásy K; on-behalf-of-the-BIOMARKER-Study-Group. El Naggar I, et al. Among authors: leiz s. Mult Scler Relat Disord. 2022 Nov;67:104068. doi: 10.1016/j.msard.2022.104068. Epub 2022 Jul 22. Mult Scler Relat Disord. 2022. PMID: 35933757
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: leiz s. 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.
42 results