Michaela Auer-Grumbach

Summary

Country: Austria

Publications

  1. pmc SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients
    Lea 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
  2. pmc SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease
    Carina Fischer
    Center for Medical Research, Medical University of Graz, Graz, Austria
    J Neurol 259:515-23. 2012
  3. pmc Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
    Michaela Auer-Grumbach
    Institute of Human Genetics, Medical University of Graz, Austria
    Nat Genet 42:160-4. 2010
  4. pmc Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin
    Michaela 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
  5. pmc Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype
    Michaela 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
  6. pmc Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I
    Christian Guelly
    Center for Medical Research, Medical University of Graz, Graz 8010, Austria
    Am J Hum Genet 88:99-105. 2011
  7. ncbi Molecular genetics of hereditary sensory neuropathies
    Michaela 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
  8. ncbi Hereditary sensory neuropathies
    Michaela Auer-Grumbach
    Institute of Medical Biology and Human Genetics, Medical University Graz, Graz, Austria
    Drugs Today (Barc) 40:385-94. 2004
  9. pmc Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome
    Barbara Rohkamm
    Institute of Human Genetics, Medical University Graz, Austria
    J Neurol Sci 263:100-6. 2007

Collaborators

Detail Information

Publications9

  1. pmc SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients
    Lea 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...
  2. pmc SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease
    Carina 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...
  3. pmc Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
    Michaela Auer-Grumbach
    Institute of Human Genetics, Medical University of Graz, Austria
    Nat Genet 42:160-4. 2010
    ....
  4. pmc Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin
    Michaela 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...
  5. pmc Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype
    Michaela 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...
  6. pmc Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I
    Christian 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...
  7. ncbi Molecular genetics of hereditary sensory neuropathies
    Michaela 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...
  8. ncbi Hereditary sensory neuropathies
    Michaela 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...
  9. pmc Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome
    Barbara 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...