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A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.
Beijer D, Dohrn MF, Rebelo A, Danzi MC, Grosz BR, Ellis M, Kumar KR, Vucic S, Vais H, Weissenrieder JS, Lunko O, Paudel U, Simpson LC, Camarena V, Raposo J, Saporta M, Arcia Y, Xu I, Feely S, Record CJ, Blake J, Reilly MM, Scherer SS, Kennerson M, Lee YC, Foskett JK, Shy ME, Zuchner S. Beijer D, et al. Among authors: dohrn mf. Brain. 2025 Jan 7;148(1):227-237. doi: 10.1093/brain/awae206. Brain. 2025. PMID: 38938188
[Neuropathic pain syndromes and channelopathies].
Dohrn MF, Lampert A, Üçeyler N, Kurth I. Dohrn MF, et al. Internist (Berl). 2019 Jan;60(1):90-97. doi: 10.1007/s00108-018-0535-x. Internist (Berl). 2019. PMID: 30564884 Review. German.
Hereditary motor neuropathies.
Dohrn MF, Saporta M. Dohrn MF, et al. Curr Opin Neurol. 2020 Oct;33(5):568-574. doi: 10.1097/WCO.0000000000000848. Curr Opin Neurol. 2020. PMID: 32796276 Review.
Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.
Cintra VP, Dohrn MF, Tomaselli PJ, Figueiredo FB, Marques SE, Camargos ST, Barbosa LSM, P Rebelo A, Abreu L, Danzi M, Marques W Jr, Züchner S. Cintra VP, et al. Among authors: dohrn mf. J Neurol Sci. 2021 Aug 15;427:117498. doi: 10.1016/j.jns.2021.117498. Epub 2021 May 18. J Neurol Sci. 2021. PMID: 34090020 Free PMC article.
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.
Dohrn MF, Heller C, Zengeler D, Obermaier CD, Biskup S, Weis J, Nikolin S, Claeys KG, Schöne U, Beijer D, Winter N, Achenbach P, Gess B, Schulz JB, Mulahasanovic L. Dohrn MF, et al. Neurol Res Pract. 2022 Feb 1;4(1):5. doi: 10.1186/s42466-022-00169-w. Neurol Res Pract. 2022. PMID: 35101151 Free PMC article.
50 results