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Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression.
Thyroid. 2020 Sep;30(9):1366-1383. doi: 10.1089/thy.2019.0544. Epub 2020 Apr 17.
Thyroid. 2020.
PMID: 32143555
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.
Masnada S, Sarret C, Antonello CE, Fadilah A, Krude H, Mura E, Mordekar S, Nicita F, Olivotto S, Orcesi S, Porta F, Remerand G, Siri B, Wilpert NM, Amir-Yazdani P, Bertini E, Schuelke M, Bernard G, Boespflug-Tanguy O, Tonduti D.
Masnada S, et al. Among authors: wilpert nm.
Mol Genet Metab. 2022 Jan;135(1):109-113. doi: 10.1016/j.ymgme.2021.12.003. Epub 2021 Dec 16.
Mol Genet Metab. 2022.
PMID: 34969638
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Establishing Patient-Centered Outcomes for MCT8 Deficiency: Stakeholder Engagement and Systematic Literature Review.
Wilpert NM, Tonduti D, Vaia Y, Krude H, Sarret C, Schuelke M.
Wilpert NM, et al.
Neuropsychiatr Dis Treat. 2023 Oct 20;19:2195-2216. doi: 10.2147/NDT.S379703. eCollection 2023.
Neuropsychiatr Dis Treat. 2023.
PMID: 37881807
Free PMC article.
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Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome.
Wilpert NM, Marguet F, Maillard C, Guimiot F, Martinovic J, Drunat S, Attié-Bitach T, Razavi F, Tessier A, Capri Y, Laquerrière A, Bahi-Buisson N.
Wilpert NM, et al.
Eur J Med Genet. 2021 Sep;64(9):104282. doi: 10.1016/j.ejmg.2021.104282. Epub 2021 Jul 17.
Eur J Med Genet. 2021.
PMID: 34284163
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Pediatric de novo movement disorders and ataxia in the context of SARS-CoV-2.
Wilpert NM, de Almeida Marcelino AL, Knierim E, Incoronato P, Sanchez-Sendin E, Staudacher O, Drenckhahn A, Bittigau P, Kreye J, Prüss H, Schuelke M, Kühn AA, Kaindl AM, Nikolaus M.
Wilpert NM, et al.
J Neurol. 2023 Oct;270(10):4593-4607. doi: 10.1007/s00415-023-11853-5. Epub 2023 Jul 29.
J Neurol. 2023.
PMID: 37515734
Free PMC article.
Review.
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Ten simple rules for implementing open and reproducible research practices after attending a training course.
Heise V, Holman C, Lo H, Lyras EM, Adkins MC, Aquino MRJ, Bougioukas KI, Bray KO, Gajos M, Guo X, Hartling C, Huerta-Gutierrez R, Jindrová M, Kenney JPM, Kępińska AP, Kneller L, Lopez-Rodriguez E, Mühlensiepen F, Richards A, Richards G, Siebert M, Smith JA, Smith N, Stransky N, Tarvainen S, Valdes DS, Warrington KL, Wilpert NM, Witkowska D, Zaneva M, Zanker J, Weissgerber TL.
Heise V, et al. Among authors: wilpert nm.
PLoS Comput Biol. 2023 Jan 5;19(1):e1010750. doi: 10.1371/journal.pcbi.1010750. eCollection 2023 Jan.
PLoS Comput Biol. 2023.
PMID: 36602968
Free PMC article.
Review.
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A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in COL6A1: Almost Overlooked.
Wilpert NM, Schuelke M, Lala B, Weiß C.
Wilpert NM, et al.
Neurology. 2024 Jun;102(11):e209476. doi: 10.1212/WNL.0000000000209476. Epub 2024 May 16.
Neurology. 2024.
PMID: 38754040
No abstract available.
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