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Comparison of CMT1A and CMT2: similarities and differences.
Bienfait HM, Verhamme C, van Schaik IN, Koelman JH, de Visser BW, de Haan RJ, Baas F, van Engelen BG, de Visser M. Bienfait HM, et al. Among authors: baas f. J Neurol. 2006 Dec;253(12):1572-80. doi: 10.1007/s00415-006-0260-6. Epub 2006 Aug 28. J Neurol. 2006. PMID: 16941080
Phenotype of Charcot-Marie-Tooth disease Type 2.
Bienfait HM, Baas F, Koelman JH, de Haan RJ, van Engelen BG, Gabreëls-Festen AA, Ongerboer de Visser BW, Meggouh F, Weterman MA, De Jonghe P, Timmerman V, de Visser M. Bienfait HM, et al. Among authors: baas f. Neurology. 2007 May 15;68(20):1658-67. doi: 10.1212/01.wnl.0000263479.97552.94. Neurology. 2007. PMID: 17502546
De-novo mutation in hereditary motor and sensory neuropathy type I.
Hoogendijk JE, Hensels GW, Gabreëls-Festen AA, Gabreëls FJ, Janssen EA, de Jonghe P, Martin JJ, van Broeckhoven C, Valentijn LJ, Baas F, et al. Hoogendijk JE, et al. Among authors: baas f. Lancet. 1992 May 2;339(8801):1081-2. doi: 10.1016/0140-6736(92)90668-s. Lancet. 1992. PMID: 1349106
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).
Hantke J, Chandler D, King R, Wanders RJ, Angelicheva D, Tournev I, McNamara E, Kwa M, Guergueltcheva V, Kaneva R, Baas F, Kalaydjieva L. Hantke J, et al. Among authors: baas f. Eur J Hum Genet. 2009 Dec;17(12):1606-14. doi: 10.1038/ejhg.2009.99. Epub 2009 Jun 17. Eur J Hum Genet. 2009. PMID: 19536174 Free PMC article.
408 results