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Molecular genetics of hereditary sensory neuropathies.
Auer-Grumbach M, Mauko B, Auer-Grumbach P, Pieber TR. Auer-Grumbach M, et al. Neuromolecular Med. 2006;8(1-2):147-58. doi: 10.1385/nmm:8:1-2:147. Neuromolecular Med. 2006. PMID: 16775373 Review.
Hereditary sensory neuropathies.
Auer-Grumbach M. Auer-Grumbach M. Drugs Today (Barc). 2004 May;40(5):385-94. doi: 10.1358/dot.2004.40.5.850487. Drugs Today (Barc). 2004. PMID: 15319794 Review.
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, Strobl-Wildemann G, Auer-Grumbach P, Fischer R, Offenbacher H, Zwick EB, Robl T, Hartl G, Hartung HP, Wagner K, Windpassinger C; Austrian Peripheral Neuropathy Study Group. Auer-Grumbach M, et al. Ann Neurol. 2005 Mar;57(3):415-24. doi: 10.1002/ana.20410. Ann Neurol. 2005. PMID: 15732094
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
Rohkamm B, Reilly MM, Lochmüller H, Schlotter-Weigel B, Barisic N, Schöls L, Nicholson G, Pareyson D, Laurà M, Janecke AR, Miltenberger-Miltenyi G, John E, Fischer C, Grill F, Wakeling W, Davis M, Pieber TR, Auer-Grumbach M. Rohkamm B, et al. J Neurol Sci. 2007 Dec 15;263(1-2):100-6. doi: 10.1016/j.jns.2007.06.047. Epub 2007 Jul 30. J Neurol Sci. 2007. PMID: 17663003 Free PMC article.
Hereditary sensory neuropathy type I.
Auer-Grumbach M. Auer-Grumbach M. Orphanet J Rare Dis. 2008 Mar 18;3:7. doi: 10.1186/1750-1172-3-7. Orphanet J Rare Dis. 2008. PMID: 18348718 Free PMC article. Review.
114 results