Michaela Auer Grumbach

Summary

Country: Austria

Publications

  1. ncbi Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation
    Michaela Auer-Grumbach
    Institute of Medical Biology and Human Genetics, Medical University Graz, Harachgasse 21 8, A 08010 Graz, Austria
    Ann Neurol 57:415-24. 2005
  2. 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
  3. ncbi Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
    Christian Windpassinger
    Institute of Medical Biology and Human Genetics, Medical University Graz, Harrachgasse 21 8, A 8010 Graz, Austria
    Nat Genet 36:271-6. 2004
  4. ncbi Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes
    Christian Windpassinger
    Institute of Medical Biology and Human Genetics, Karl Franzens University Graz, Harrachgasse 21 8, 8010 Graz, Austria
    Hum Genet 114:99-109. 2003
  5. 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
  6. ncbi The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V
    Joy Irobi
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium
    Brain 127:2124-30. 2004
  7. ncbi Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene
    Gabriel Miltenberger-Miltenyi
    Section of Clinical Genetics, Innsbruck Medical University, Anichstrasse 35, A 6020 Innsbruck, Austria
    Arch Neurol 64:966-70. 2007
  8. doi Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study
    Ines Dierick
    Peripheral Neuropathy Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium
    Brain 131:1217-27. 2008
  9. ncbi Hereditary spastic paraplegia 3A associated with axonal neuropathy
    Neviana Ivanova
    Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria
    Arch Neurol 64:706-13. 2007
  10. ncbi Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause
    Christian Beetz
    Hum Mutat 28:739-40. 2007

Collaborators

Detail Information

Publications17

  1. ncbi Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation
    Michaela Auer-Grumbach
    Institute of Medical Biology and Human Genetics, Medical University Graz, Harachgasse 21 8, A 08010 Graz, Austria
    Ann Neurol 57:415-24. 2005
    ..Sensory nerve conduction studies were rarely pathological. Our study indicates that the dominant N88S mutation in the Berardinelli-Seip congenital lipodystrophy gene 2 leads to a broad spectrum of motor neuron disorders...
  2. 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...
  3. ncbi Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
    Christian Windpassinger
    Institute of Medical Biology and Human Genetics, Medical University Graz, Harrachgasse 21 8, A 8010 Graz, Austria
    Nat Genet 36:271-6. 2004
    ..We show that seipin is an integral membrane protein of the endoplasmic reticulum (ER). The amino acid substitutions N88S and S90L affect glycosylation of seipin and result in aggregate formation leading to neurodegeneration...
  4. ncbi Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes
    Christian Windpassinger
    Institute of Medical Biology and Human Genetics, Karl Franzens University Graz, Harrachgasse 21 8, 8010 Graz, Austria
    Hum Genet 114:99-109. 2003
    ....
  5. 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...
  6. ncbi The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V
    Joy Irobi
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium
    Brain 127:2124-30. 2004
    ..These observations broaden the clinical phenotype of disorders associated with BSCL2 mutations, having consequences for molecular genetic testing...
  7. ncbi Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene
    Gabriel Miltenberger-Miltenyi
    Section of Clinical Genetics, Innsbruck Medical University, Anichstrasse 35, A 6020 Innsbruck, Austria
    Arch Neurol 64:966-70. 2007
    ..NEFL mutations were found to be associated with axonal and demyelinating variants of CMT...
  8. doi Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study
    Ines Dierick
    Peripheral Neuropathy Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium
    Brain 131:1217-27. 2008
    ....
  9. ncbi Hereditary spastic paraplegia 3A associated with axonal neuropathy
    Neviana Ivanova
    Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria
    Arch Neurol 64:706-13. 2007
    ..To study the frequency and distribution of mutations in SPG3A in a large cohort of patients with hereditary spastic paraplegia...
  10. ncbi Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause
    Christian Beetz
    Hum Mutat 28:739-40. 2007
  11. 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...
  12. ncbi MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
    Kristien Verhoeven
    Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen, Belgium
    Brain 129:2093-102. 2006
    ..In patients with a documented family history of CMT2 the frequency of MFN2 mutations was 33% indicating that MFN2 mutations are a major cause in this population...
  13. pmc Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy
    Kristien Verhoeven
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Born Bunge Foundation, University of Antwerp, Antwerp, Belgium
    Am J Hum Genet 72:722-7. 2003
    ..The alignment of RAB7 orthologs shows that both missense mutations target highly conserved amino acid residues. RAB7 is ubiquitously expressed, and we found expression in sensory and motor neurons...
  14. ncbi Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
    Oleg V Evgrafov
    Department of Psychiatry, New York State Psychiatric Institute Research Foundation for Mental Hygiene, Unit 28, 1051 Riverside Drive, New York, New York 10032, USA
    Nat Genet 36:602-6. 2004
    ..Cotransfection of neurofilament light chain (NEFL) and mutant HSPB1 resulted in altered neurofilament assembly in cells devoid of cytoplasmic intermediate filaments...
  15. pmc DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
    Ying Zhang Chen
    Division of Genetics and Developmental Medicine, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 74:1128-35. 2004
    ..These observations of ALS4 suggest that mutations in SETX may cause neuronal degeneration through dysfunction of the helicase activity or other steps in RNA processing...
  16. ncbi Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene
    Ming Jen Lee
    Division of Clinical Neurology and Department of Molecular Pathogenesis, Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    Hum Mol Genet 12:1917-25. 2003
    ..This is the first report of a mutation in a molecular chaperonin causing a hereditary neuropathy and raises the possibility that mis-folding proteins may be a cause of this group of neuropathies...
  17. doi Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C
    Julia Rankin
    Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK
    Am J Med Genet A 146:1530-42. 2008
    ..This report provides further evidence of the extreme phenotypic diversity and low penetrance associated with the R644C mutation. Possible explanations for these observations are discussed...