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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4.
Genet Med. 2023.
PMID: 36331550
Free PMC article.
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Pringsheim M, Mitter D, Schröder S, Warthemann R, Plümacher K, Kluger G, Baethmann M, Bast T, Braun S, Büttel HM, Conover E, Courage C, Datta AN, Eger A, Grebe TA, Hasse-Wittmer A, Heruth M, Höft K, Kaindl AM, Karch S, Kautzky T, Korenke GC, Kruse B, Lutz RE, Omran H, Patzer S, Philippi H, Ramsey K, Rating T, Rieß A, Schimmel M, Westman R, Zech FM, Zirn B, Ulmke PA, Sokpor G, Tuoc T, Leha A, Staudt M, Brockmann K.
Pringsheim M, et al. Among authors: heruth m.
Ann Clin Transl Neurol. 2019 Mar 3;6(4):655-668. doi: 10.1002/acn3.735. eCollection 2019 Apr.
Ann Clin Transl Neurol. 2019.
PMID: 31019990
Free PMC article.
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FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K.
Mitter D, et al. Among authors: heruth m.
Genet Med. 2018 Jan;20(1):98-108. doi: 10.1038/gim.2017.75. Epub 2017 Jun 29.
Genet Med. 2018.
PMID: 28661489
Free article.
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Antiepileptic drugs and bone metabolism in children: data from 128 patients.
Borusiak P, Langer T, Heruth M, Karenfort M, Bettendorf U, Jenke AC.
Borusiak P, et al. Among authors: heruth m.
J Child Neurol. 2013 Feb;28(2):176-83. doi: 10.1177/0883073812443005. Epub 2012 May 1.
J Child Neurol. 2013.
PMID: 22550090
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[Exudative enteropathy in congenital lymphedema-lymphangiectasia syndrome].
Heruth M, Müller P, Liebscher L, Kurze G, Richter T.
Heruth M, et al.
Klin Padiatr. 2006 Jan-Feb;218(1):27-30. doi: 10.1055/s-2004-832486.
Klin Padiatr. 2006.
PMID: 16432772
German.
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