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1.	Bone, L., et al. (author) New connexin32 muations associated with X-linked Charcot-Marie-Tooth disease 1995 In: Neurology. - 0028-3878 .- 1526-632X. ; 45:10, s. 1863-6 Journal article (peer-reviewed)abstract Analysis of the connexin32 gene in patients with X-linked Charcot-Marie-Tooth disease shows mutations distributed throughout the molecule, with all domains affected except the fourth transmembrane domain and the distal carboxy terminus. Sequence analysis of DNA from 19 unrelated patients detected six novel mutations and three previously reported mutations. Identification of additional mutations extends the distribution of connexin32 mutations in X-linked Charcot-Marie-Tooth disease and shows that specific mutations recur in additional families.
2.	Grunseich, C, et al. (author) Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients 2014 In: Neurobiology of disease. - : Elsevier BV. - 1095-953X .- 0969-9961. ; 70, s. 12-20 Journal article (peer-reviewed)
3.	Pericak-Vance, M., et al. (author) Additional support that connexin32 is the defect in CMTX1. 1995 In: Human Heredity. ; 45, s. 121- Journal article (peer-reviewed)

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Type of publication: journal article (3)

Type of content: peer-reviewed (3)

Author/Editor: Fischbeck, K. (2); Wang, S (1); Monaco, A. (1); Sillen, A (1); DAHL, N (1); Magi, S (1); show more...; Dahl, Niklas (1); Shapiro, H. (1); Haines, J (1); Chance, S. (1); Boehm, M (1); Bone, L. (1); Lensch, M. (1); Chance, P. (1); Kelly, T. (1); Le Guern, E. (1); Parry, G. (1); Pericak-Vance, M (1); Bott, LC (1); Chen, KL (1); Harmison, GG (1); Fischbeck, KH (1); Rinaldi, C (1); Chen, GB (1); Nicholson, G. (1); Haites, N (1); Gal, A. (1); Bergoffen, J (1); Grunseich, C (1); Kats, IR (1); Zukosky, K (1); Ghosh, L (1); Fain, P (1); Cochrane, S. (1); Exler, M. (1); Fairweather, N. (1); Ioanescu, V. (1); Kennerson, M. (1); Mostacucuiolo, M (1); show less...

University: Uppsala University (2); Karolinska Institutet (1)

Language: English (3)

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