M Auer-Grumbach

Summary

Affiliation: University of Graz
Country: Austria

Publications

  1. ncbi request reprint Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review
    Michaela Auer-Grumbach
    Institute of Medical Biology and Human Genetics, Karl Franzens University Graz, Harrachgasse 21 8, A 8010 Graz, Austria
    Arch Neurol 60:329-34. 2003
  2. 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
  3. ncbi request reprint 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
  4. ncbi request reprint Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci
    M Auer-Grumbach
    Department of Neurology, Karl Franzens University Graz, Austria
    Neurology 54:45-52. 2000
  5. ncbi request reprint Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study
    M Auer-Grumbach
    Department of Neurology, Karl Franzens University, Institute of Medical Biology and Human Genetics, Graz, Austria
    Brain 123:1612-23. 2000
  6. ncbi request reprint Clinical predominance of proximal upper limb weakness in CMT1A syndrome
    M Auer-Grumbach
    Department of Neurology, Karl Franzens University, Graz, Austria
    Muscle Nerve 23:1243-9. 2000
  7. ncbi request reprint Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene
    M Auer-Grumbach
    Institute of Medical Biology and Human Genetics, Karl Franzens University Graz, Austria
    Neurology 61:1435-7. 2003
  8. ncbi request reprint Troyer syndrome: a combination of central brain abnormality and motor neuron disease?
    M Auer-Grumbach
    Department of Neurology, Karl Franzens University Graz, Austria
    J Neurol 246:556-61. 1999
  9. ncbi request reprint Comparison of second lumbrical and interosseus latencies with standard measures of median nerve function across the carpal tunnel: a prospective study of 450 hands
    W N Loscher
    Department of Neurology, Karl Franzens University of Graz, Austria
    J Neurol 247:530-4. 2000
  10. ncbi request reprint 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

Collaborators

Detail Information

Publications24

  1. ncbi request reprint Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review
    Michaela Auer-Grumbach
    Institute of Medical Biology and Human Genetics, Karl Franzens University Graz, Harrachgasse 21 8, A 8010 Graz, Austria
    Arch Neurol 60:329-34. 2003
    ..In this review, we discuss the hallmark features associated with the distinct genetic subtypes of autosomal dominant inherited HSN and provide genotype-phenotype correlations...
  2. 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...
  3. ncbi request reprint 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...
  4. ncbi request reprint Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci
    M Auer-Grumbach
    Department of Neurology, Karl Franzens University Graz, Austria
    Neurology 54:45-52. 2000
    ..To elucidate genetic heterogeneity in ulcero-mutilating neuropathy...
  5. ncbi request reprint Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study
    M Auer-Grumbach
    Department of Neurology, Karl Franzens University, Institute of Medical Biology and Human Genetics, Graz, Austria
    Brain 123:1612-23. 2000
    ..Finally, molecular genetic studies demonstrate genetic heterogeneity, suggesting the existence of at least a second genetic subtype in HMN V...
  6. ncbi request reprint Clinical predominance of proximal upper limb weakness in CMT1A syndrome
    M Auer-Grumbach
    Department of Neurology, Karl Franzens University, Graz, Austria
    Muscle Nerve 23:1243-9. 2000
    ..The unusual phenotype cannot be explained by the concomitant presence of FSHD despite some evidence for coexistance in one individual...
  7. ncbi request reprint Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene
    M Auer-Grumbach
    Institute of Medical Biology and Human Genetics, Karl Franzens University Graz, Austria
    Neurology 61:1435-7. 2003
    ..Previously, chronic polyradiculoneuritis was assumed in two patients. Molecular genetic testing and particularly screening for MPZ mutations in late onset neuropathies are important to differentiate acquired and inherited neuropathies...
  8. ncbi request reprint Troyer syndrome: a combination of central brain abnormality and motor neuron disease?
    M Auer-Grumbach
    Department of Neurology, Karl Franzens University Graz, Austria
    J Neurol 246:556-61. 1999
    ....
  9. ncbi request reprint Comparison of second lumbrical and interosseus latencies with standard measures of median nerve function across the carpal tunnel: a prospective study of 450 hands
    W N Loscher
    Department of Neurology, Karl Franzens University of Graz, Austria
    J Neurol 247:530-4. 2000
    ....
  10. ncbi request reprint 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...
  11. ncbi request reprint 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. pmc Hereditary sensory neuropathy type I
    Michaela Auer-Grumbach
    Institute of Human Genetics, Graz, Austria
    Orphanet J Rare Dis 3:7. 2008
    ..The disorder is slowly progressive and does not influence life expectancy but is often severely disabling after a long duration of the disease...
  13. ncbi request reprint 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...
  14. doi request reprint 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
    ....
  15. ncbi request reprint Recent advances in hereditary sensory and autonomic neuropathies
    Kristien Verhoeven
    Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium
    Curr Opin Neurol 19:474-80. 2006
    ..This review summarizes the genetic advances of hereditary sensory neuropathies and hereditary sensory and autonomic neuropathies, and provides information on phenotype-genotype correlation and on possible underlying pathomechanisms...
  16. 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...
  17. ncbi request reprint 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...
  18. ncbi request reprint 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...
  19. ncbi request reprint 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...
  20. ncbi request reprint 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...
  21. ncbi request reprint 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...
  22. 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...
  23. ncbi request reprint Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy
    Jennifer L Dawkins
    Neurobiology Laboratory, ANZAC Research Institute, University of Sydney, Concord Hospital, NSW 2139, Australia
    Neuromuscul Disord 12:656-8. 2002
    ..No mutations in the SPTLC2 gene were found in any family. These results suggest that SPTLC2 mutations are not a common cause for genetic sensory neuropathies...
  24. doi request reprint 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...