Genomes and Genes
- Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2CMichaela Auer-Grumbach
Institute of Human Genetics, Medical University of Graz, Austria
Nat Genet 42:160-4. 2010....
- Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skinMichaela Auer-Grumbach
Department of Internal Medicine, Division of Endocrinology and Metabolism, Medical University of Graz, Stiftingtalstraße 24 A 8010 Graz, Austria
Brain 134:1839-52. 2011..Furthermore, it adumbrates a new syndrome by linking concurrent pathologic alterations affecting peripheral nerves, eyes and skin to mutations in the fibulin-5 gene...
- SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseCarina Fischer
Center for Medical Research, Medical University of Graz, Graz, Austria
J Neurol 259:515-23. 2012..N131S). We conclude that SNP array-based homozygosity mapping is a fast, powerful, and economic tool to guide molecular genetic testing in ARCMT and in selected sporadic CMT patients...
- Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotypeMichaela Auer-Grumbach
Department of Internal Medicine, Division of Endocrinology and Metabolism, Medical University of Graz, Graz, Austria
Eur J Med Genet 56:266-9. 2013..In contrast to other HSN patients reported so far, our findings strongly indicate that mutations at amino acid position Ser331 of the SPTLC1 gene lead to a distinct syndrome...
- SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patientsLea Papić
Department of Internal Medicine, Division of Diabetes and Metabolism, Medical University of Graz, Auenbruggerplatz 15, 8036 Graz, Austria
Eur J Med Genet 54:214-9. 2011..Furthermore, this is the first study describing that in addition to PTRF, encoding polymerase I and transcript release factor, FKRP mutations may cause secondary caveolin-3 deficiency...
- Molecular genetics of hereditary sensory neuropathiesMichaela Auer-Grumbach
Department of Internal Medicine, Medical Research Center, Medical University of Graz, Stiftingtalstrasse 24, A 8010 Graz, Austria
Neuromolecular Med 8:147-58. 2006..Nevertheless, it remains unclear how mutations in the known genes lead to the phenotype of HSN. In this review, we summarize the recent progress of the molecular genetics of the HSN and the implicated genes...
- Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type IChristian Guelly
Center for Medical Research, Medical University of Graz, Graz 8010, Austria
Am J Hum Genet 88:99-105. 2011..196G>C [p.Glu66Gln] and c.976 delG [p.Val326TrpfsX8]). This study highlights an unexpected major role for atlastin-1 in the function of sensory neurons and identifies HSN I and SPG3A as allelic disorders...
- Hereditary sensory neuropathiesMichaela Auer-Grumbach
Institute of Medical Biology and Human Genetics, Medical University Graz, Graz, Austria
Drugs Today (Barc) 40:385-94. 2004..They will also be the basis for functional studies in the future...
- Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndromeBarbara Rohkamm
Institute of Human Genetics, Medical University Graz, Austria
J Neurol Sci 263:100-6. 2007..Mutations in the heat-shock proteins HSPB1 and HSPB8 can cause related distal hereditary motor neuropathies (dHMN) and are considered candidates for dHMN-V, CMT2, and SS...