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Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.
Melone MA, Pellegrino MJ, Nolano M, Habecker BA, Johansson S, Nathanson NM, Knappskog PM, Hahn AF, Boman H. Melone MA, et al. Among authors: hahn af. Ann Clin Transl Neurol. 2014 Nov;1(11):926-32. doi: 10.1002/acn3.126. Epub 2014 Oct 24. Ann Clin Transl Neurol. 2014. PMID: 25540807 Free PMC article.
Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.
Rousseau F, Gauchat JF, McLeod JG, Chevalier S, Guillet C, Guilhot F, Cognet I, Froger J, Hahn AF, Knappskog PM, Gascan H, Boman H. Rousseau F, et al. Among authors: hahn af. Proc Natl Acad Sci U S A. 2006 Jun 27;103(26):10068-73. doi: 10.1073/pnas.0509598103. Epub 2006 Jun 16. Proc Natl Acad Sci U S A. 2006. PMID: 16782820 Free PMC article.
Cold-Induced Sweating Syndrome Including Crisponi Syndrome.
Hahn AF, Knappskog PM. Hahn AF, et al. 2011 Mar 3 [updated 2021 Aug 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2011 Mar 3 [updated 2021 Aug 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 21370513 Free Books & Documents. Review.
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Juneja M, Azmi A, Baets J, Roos A, Jennings MJ, Saveri P, Pisciotta C, Bernard-Marissal N, Schneider BL, Verfaillie C, Chrast R, Seeman P, Hahn AF, de Jonghe P, Maudsley S, Horvath R, Pareyson D, Timmerman V. Juneja M, et al. Among authors: hahn af. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):870-878. doi: 10.1136/jnnp-2017-317562. Epub 2018 Feb 15. J Neurol Neurosurg Psychiatry. 2018. PMID: 29449460
119 results