F Asmus

Summary

Country: Germany

Publications

  1. ncbi request reprint Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype
    Friedrich Asmus
    Neurologische Klinik Grosshadern, Ludwig Maximilians Universitat, Munich, Germany
    Ann Neurol 52:489-92. 2002
  2. ncbi request reprint Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene
    Friedrich Asmus
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tubingen, Germany
    Ann Neurol 58:792-7. 2005
  3. ncbi request reprint A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa
    F Asmus
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tuebingen, Germany
    Neurology 64:1952-4. 2005
  4. ncbi request reprint Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype
    Friedrich Asmus
    Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany
    Brain 130:2736-45. 2007
  5. ncbi request reprint Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia
    Friedrich Asmus
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany
    Mov Disord 22:2104-9. 2007
  6. doi request reprint "Jerky" dystonia in children: spectrum of phenotypes and genetic testing
    Friedrich Asmus
    Department of Neurodegenerative Disease, Hertie Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany
    Mov Disord 24:702-9. 2009
  7. doi request reprint Dystonia-plus syndromes
    F Asmus
    Department of Neurodegenerative Disease, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany
    Eur J Neurol 17:37-45. 2010
  8. ncbi request reprint Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia
    C Kamm
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Hoppe Seyler Str 3, 72086 Tuebingen, Germany
    Neurology 67:1857-9. 2006
  9. ncbi request reprint The role of alpha-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies
    A Hofer
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Germany
    J Neural Transm 112:1249-54. 2005
  10. doi request reprint A novel clinical syndrome revealing a deficiency of the muscarinic M3 receptor
    J K Pomper
    Department of Cognitive Neurology, Hertie Institute for Clinical Brain Research, University of Tubingen, 72076 Tubingen, Germany
    Neurology 76:451-5. 2011

Collaborators

Detail Information

Publications20

  1. ncbi request reprint Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype
    Friedrich Asmus
    Neurologische Klinik Grosshadern, Ludwig Maximilians Universitat, Munich, Germany
    Ann Neurol 52:489-92. 2002
    ..Six novel and one previously known heterozygous SGCE mutations were identified. SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome...
  2. ncbi request reprint Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene
    Friedrich Asmus
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tubingen, Germany
    Ann Neurol 58:792-7. 2005
    ..SGCE exon dosage assays may identify additional families with SGCE mutation and thus reduce "genetic heterogeneity."..
  3. ncbi request reprint A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa
    F Asmus
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tuebingen, Germany
    Neurology 64:1952-4. 2005
    ..Surprisingly, treatment with levodopa improved gait dramatically and reduced chorea in two patients. Dopaminergic drugs should be considered a useful therapeutic option in BHC...
  4. ncbi request reprint Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype
    Friedrich Asmus
    Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany
    Brain 130:2736-45. 2007
    ....
  5. ncbi request reprint Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia
    Friedrich Asmus
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany
    Mov Disord 22:2104-9. 2007
    ..TITF-1 mutations should be considered in choreiform movement disorders with onset in infancy even in the presence of dystonia and myoclonic jerks...
  6. doi request reprint "Jerky" dystonia in children: spectrum of phenotypes and genetic testing
    Friedrich Asmus
    Department of Neurodegenerative Disease, Hertie Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany
    Mov Disord 24:702-9. 2009
    ..A causative gene for D-PMM remains to be identified...
  7. doi request reprint Dystonia-plus syndromes
    F Asmus
    Department of Neurodegenerative Disease, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany
    Eur J Neurol 17:37-45. 2010
    ..Recently, a novel form of dystonia-parkinsonism (DYT16) has been found to be linked to mutations in the PRKRA gene, whose relation to basal ganglia disorders is yet unknown ...
  8. ncbi request reprint Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia
    C Kamm
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Hoppe Seyler Str 3, 72086 Tuebingen, Germany
    Neurology 67:1857-9. 2006
    ..000008, in a larger cohort of German and Austrian patients with predominantly focal sporadic dystonia...
  9. ncbi request reprint The role of alpha-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies
    A Hofer
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Germany
    J Neural Transm 112:1249-54. 2005
    ..A triplication of the alpha-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families...
  10. doi request reprint A novel clinical syndrome revealing a deficiency of the muscarinic M3 receptor
    J K Pomper
    Department of Cognitive Neurology, Hertie Institute for Clinical Brain Research, University of Tubingen, 72076 Tubingen, Germany
    Neurology 76:451-5. 2011
    ..No clinical disorders have been caused by dysfunction of any of the 5 subtypes (M1-M5) of muscarinic receptors. We present a patient with a novel clinical syndrome that we suggest results from a deficiency of the muscarinic M3 receptor...
  11. ncbi request reprint Inherited myoclonus-dystonia
    Friedrich Asmus
    Department of Neurodegenerative Disorders, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany, USA
    Adv Neurol 94:113-9. 2004
  12. ncbi request reprint Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
    Alexander Zimprich
    Department of Neurodegenerative Disease, Hertie Institute for Clinical Brain Research, University of Tubingen, 72076 Tubingen, Germany
    Neuron 44:601-7. 2004
    ..Hence, LRRK2 may be central to the pathogenesis of several major neurodegenerative disorders associated with parkinsonism...
  13. pmc The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval
    Alexander Zimprich
    Hertie Institute for Clinical Brain Research, Department for Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany
    Am J Hum Genet 74:11-9. 2004
    ..7 Mb). Our data provide evidence that the PARK8 locus is responsible for the disease in a subset of families of white ancestry with autosomal dominant parkinsonism, suggesting that it could be a more common locus...
  14. ncbi request reprint Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome
    Friedrich Asmus
    Neurogenetics 6:55-6. 2005
  15. ncbi request reprint Point mutations in exon 1 of the NR4A2 gene are not a major cause of familial Parkinson's disease
    Alexander Zimprich
    Neurogenetics 4:219-20. 2003
  16. ncbi request reprint The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted
    Monika Grabowski
    Institute of Human Genetics, GSF National Research Center, D 85764 München Neuherberg, Germany
    Eur J Hum Genet 11:138-44. 2003
    ..We investigated one affected female that inherited the mutated allele from her mother. Surprisingly, we found the paternal wild type allele expressed whereas the mutated maternal allele was not detectable in peripheral blood cDNA...
  17. ncbi request reprint Haplotype analysis of the human endogenous retrovirus locus HERV-K(HML-2.HOM) and its evolutionary implications
    Jens Mayer
    Department of Human Genetics, Bulding 60, Medical Faculty, University of Saarland, 66421 Homburg, Germany
    J Mol Evol 61:706-15. 2005
    ..The various haplotypes point toward multiple recombination events between HERV-K(HML-2.HOM) proviruses. Based on these findings we derive a model for the evolution of the proviral locus since germ line integration...
  18. ncbi request reprint Excellent response to apomorphine in Parkinsonism with optic atrophy unresponsive to oral antiparkinsonian medication
    Angela Deutschlander
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Mov Disord 21:1523-5. 2006
    ..The severe motor symptoms of both patients were conspicuously alleviated by apomorphine delivered subcutaneously. One patient underwent bilateral subthalamic nucleus deep brain stimulation, which also proved effective...
  19. ncbi request reprint Sporadic rapid-onset dystonia-parkinsonism syndrome: failure of bilateral pallidal stimulation
    Angela Deutschlander
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Mov Disord 20:254-7. 2005
    ..The patient fulfilled all diagnostic criteria of rapid-onset dystonia-parkinsonism, except for autosomal-dominant inheritance. Bilateral deep brain stimulation of the globus pallidus failed to alleviate her symptoms...
  20. ncbi request reprint Intrafamilial variability in fragile X-associated tremor/ataxia syndrome
    Nils Peters
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany
    Mov Disord 21:98-102. 2006
    ..Also, their family history suggests further evidence of possible manifestation of FXTAS in women...