Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

45 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature.
Dohrn MF, Auer-Grumbach M, Baron R, Birklein F, Escolano-Lozano F, Geber C, Grether N, Hagenacker T, Hund E, Sachau J, Schilling M, Schmidt J, Schulte-Mattler W, Sommer C, Weiler M, Wunderlich G, Hahn K. Dohrn MF, et al. J Neurol. 2021 Oct;268(10):3610-3625. doi: 10.1007/s00415-020-09962-6. Epub 2020 Jun 4. J Neurol. 2021. PMID: 32500375 Free PMC article.
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome.
Dohrn MF, Rebelo AP, Srivastava S, Cappuccio G, Smigiel R, Malhotra A, Basel D, van de Laar I, Neuteboom RF, Aarts-Tesselaar C, Mahida S, Brunetti-Pierri N, Taft RJ, Züchner S. Dohrn MF, et al. Neurology. 2022 Mar 15;98(11):440-445. doi: 10.1212/WNL.0000000000013276. Epub 2022 Feb 2. Neurology. 2022. PMID: 35110381 Free PMC article.
Amyloidogenicity assessment of transthyretin gene variants.
Grether NB, Napravnik F, Imhof T, Linke RP, Bräsen JH, Schmitz J, Dohrn M, Schneider C, Svačina MKR, Stetefeld J, Koch M, Lehmann HC. Grether NB, et al. Ann Clin Transl Neurol. 2022 Aug;9(8):1252-1263. doi: 10.1002/acn3.51626. Epub 2022 Jul 29. Ann Clin Transl Neurol. 2022. PMID: 35903975 Free PMC article.
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease.
Cinarli Yuksel F, Nicolaou P, Spontarelli K, Dohrn MF, Rebelo AP, Koutsou P, Georghiou A, Artigas P, Züchner SL, Kleopa KA, Christodoulou K. Cinarli Yuksel F, et al. Among authors: dohrn mf. J Neurol. 2023 May;270(5):2576-2590. doi: 10.1007/s00415-023-11581-w. Epub 2023 Feb 4. J Neurol. 2023. PMID: 36738336 Free PMC article.
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Rebelo AP, Tomaselli PJ, Medina J, Wang Y, Dohrn MF, Nyvltova E, Danzi MC, Garrett M, Smith SE, Pestronk A, Li C, Ruiz A, Jacobs E, Feely SME, França MC, Gomes MV, Santos DF, Kumar S, Lombard DB, Saporta M, Hekimi S, Barrientos A, Weihl C, Shy ME, Marques W, Zuchner S. Rebelo AP, et al. Among authors: dohrn mf. Brain. 2023 Oct 3;146(10):4191-4199. doi: 10.1093/brain/awad158. Brain. 2023. PMID: 37170631 Free PMC article.
45 results