Ulrich Muller

Summary

Affiliation: University of Giessen
Country: Germany

Publications

  1. ncbi request reprint H-Y antigens
    U Muller
    Institut fur Humangenetik, Justus Liebig Universitat Giessen, Germany
    Hum Genet 97:701-4. 1996
  2. ncbi request reprint Clinical and molecular genetics of primary dystonias
    U Muller
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Neurogenetics 1:165-77. 1998
  3. doi request reprint The monogenic primary dystonias
    Ulrich Muller
    Institut fur Humangenetik, Justus Liebig Universitat, Schlangenzahl 14, 35392 Giessen, Germany
    Brain 132:2005-25. 2009
  4. doi request reprint Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC)
    Ulrich Muller
    Institut fur Humangenetik, Justus Liebig Universitat, Giesen, and bio logis, Zentrum für Humangenetik, Frankfurt aM, 35392 Giessen, Germany
    Neurogenetics 12:175-81. 2011
  5. ncbi request reprint SDHC mutations in hereditary paraganglioma/pheochromocytoma
    Ulrich Muller
    Ulrich Müller, Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Schlangenzahl 14, Germany
    Fam Cancer 4:9-12. 2005
  6. ncbi request reprint Mutations of GCH1 in Dopa-responsive dystonia
    U Muller
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Federal Republic of Germany
    J Neural Transm 109:321-8. 2002
  7. doi request reprint X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism
    Thilo Herzfeld
    Institute of Human Genetics, University of Giessen, Giessen, Germany
    Hum Mol Genet 22:941-51. 2013
  8. ncbi request reprint Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia
    Daniela Steinberger
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Neurogenetics 8:51-5. 2007
  9. doi request reprint Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)
    Thilo Herzfeld
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Neurogenetics 10:59-64. 2009
  10. ncbi request reprint Structural and functional analysis of the human TAF1/DYT3 multiple transcript system
    Thilo Herzfeld
    Institut fur Humangenetik, Justus Liebig Universitat, Schlangenzahl 14, 35392 Giessen, Germany
    Mamm Genome 18:787-95. 2007

Collaborators

Detail Information

Publications39

  1. ncbi request reprint H-Y antigens
    U Muller
    Institut fur Humangenetik, Justus Liebig Universitat Giessen, Germany
    Hum Genet 97:701-4. 1996
    ..H-Y antisera also detect a molecule or molecules associated with the heterogametic sex in nonmammalian vertebrates. Molecular data on this antigen or antigens are not yet available...
  2. ncbi request reprint Clinical and molecular genetics of primary dystonias
    U Muller
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Neurogenetics 1:165-77. 1998
    ..This article reviews the clinical and molecular genetics of primary dystonias, critically discusses present findings, and proposes referring to the known forms, most of which can be distinguished by genetic criteria, as dystonias 1-12...
  3. doi request reprint The monogenic primary dystonias
    Ulrich Muller
    Institut fur Humangenetik, Justus Liebig Universitat, Schlangenzahl 14, 35392 Giessen, Germany
    Brain 132:2005-25. 2009
    ..Although much is now known about the molecular basis of primary dystonias, treatment of patients is still mainly symptomatic. The only exceptions are dystonias 5a and 5b with their excellent long-term response to L-dopa substitution...
  4. doi request reprint Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC)
    Ulrich Muller
    Institut fur Humangenetik, Justus Liebig Universitat, Giesen, and bio logis, Zentrum für Humangenetik, Frankfurt aM, 35392 Giessen, Germany
    Neurogenetics 12:175-81. 2011
    ..A model is proposed to explain exclusive paternal inheritance and loss of the maternal (putatively imprinted) allele as a prerequisite for tumor formation in PGLs 1 and 2...
  5. ncbi request reprint SDHC mutations in hereditary paraganglioma/pheochromocytoma
    Ulrich Muller
    Ulrich Müller, Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Schlangenzahl 14, Germany
    Fam Cancer 4:9-12. 2005
    ..This article reviews the SDHC mutations described to date and discusses possible mechanisms of tumorigenesis...
  6. ncbi request reprint Mutations of GCH1 in Dopa-responsive dystonia
    U Muller
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Federal Republic of Germany
    J Neural Transm 109:321-8. 2002
    ..Additional open questions in DRD include the molecular mechanisms resulting in highly variable expressivity of symptoms and the more likely occurrence of symptoms in a female than in a male carrier of a GCH1 mutation...
  7. doi request reprint X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism
    Thilo Herzfeld
    Institute of Human Genetics, University of Giessen, Giessen, Germany
    Hum Mol Genet 22:941-51. 2013
    ..Although d3-d4 also affect genes potentially related to neurodegenerative processes, their physiologic role as splice variants of TAF1 awaits further exploration...
  8. ncbi request reprint Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia
    Daniela Steinberger
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Neurogenetics 8:51-5. 2007
    ..The findings were confirmed by quantitative real-time PCR. Our investigations demonstrate the utility of MLPA for routine deletion analysis of GCH1 in DRD patients with no sequence changes in this gene...
  9. doi request reprint Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)
    Thilo Herzfeld
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Neurogenetics 10:59-64. 2009
    ..e., both maternal alleles were present. The findings can be explained by at least four recombination events during maternal meiosis followed by a meiosis I error and postzygotic trisomy rescue or gamete complementation...
  10. ncbi request reprint Structural and functional analysis of the human TAF1/DYT3 multiple transcript system
    Thilo Herzfeld
    Institut fur Humangenetik, Justus Liebig Universitat, Schlangenzahl 14, 35392 Giessen, Germany
    Mamm Genome 18:787-95. 2007
    ..The study demonstrates the structural and functional evolution of a complex transcript system...
  11. ncbi request reprint Frequency of GCH1 deletions in Dopa-responsive dystonia
    B Zirn
    Institut fur Humangenetik, University of Giessen, Schlangenzahl 14, D 35392 Giessen, Germany
    J Neurol Neurosurg Psychiatry 79:183-6. 2008
    ..We conclude that GCH1 deletion analysis should be incorporated into the routine molecular diagnosis of all patients with DRD with a sustained response to L-Dopa...
  12. doi request reprint DYT7 gene locus for cervical dystonia on chromosome 18p is questionable
    Pia Winter
    Institute of Human Genetics, Justus Liebig University, Giessen, Germany
    Mov Disord 27:1819-21. 2012
    ..A locus implicated in autosomal dominant cervical dystonia was assigned to chromosome 18p in 1 large family more than 15 years ago. This locus was designated DYT7. We reanalyzed the family clinically and genetically...
  13. ncbi request reprint Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family
    Dagmar Nolte
    Institut fur Humangenetik, Justus Liebig Universitat Giessen, Germany
    Mov Disord 22:265-7. 2007
    ..Among the 20 mutations described to date, this is the first mutation located in exon 2 of PRKCG...
  14. pmc Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect
    S Niemann
    Institute of Human Genetics, Justus Liebig University, Giessen, Germany
    J Neurol Neurosurg Psychiatry 75:1186-8. 2004
    ..Genotyping with markers from the SOD1 locus revealed a common haplotype and shared allelic characteristics in these patients. These findings suggest that the R115G mutation in the German population originates from a common founder...
  15. doi request reprint KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes
    B A Neubauer
    Department of Pediatric Neurology, University of Giessen Marburg, Feulgenstrasse 12, D 35385 Giessen, Germany
    Neurology 71:177-83. 2008
    ..To explore the involvement of M-type potassium channels KCNQ2, Q3, and Q5 in the pathogenesis of common idiopathic epilepsies...
  16. ncbi request reprint Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion
    Y Weber
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Neurogenetics 1:125-7. 1997
    ..e. the G of the wild-type splice site. This in turn causes a frame shift including the introduction of a premature stop codon. The two different mutations generate truncated GTP cyclohydrolase polypeptides...
  17. doi request reprint Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene
    D Nolte
    Institut fur Humangenetik, Justus Liebig Universitat Giessen, Giessen, Germany
    J Neurol Neurosurg Psychiatry 81:1396-9. 2010
    ..Spinocerebellar ataxia type 17 (SCA17) is caused by abnormal expansions of CAG/CAA trinucleotides within the TATA-box binding protein gene (TBP). The currently accepted critical threshold of abnormal expansions is ≥43...
  18. ncbi request reprint Molecular genetics of craniosynostotic syndromes
    U Muller
    Institut fur Humangenetik, Giessen, Germany
    Graefes Arch Clin Exp Ophthalmol 235:545-50. 1997
    ..The disease genes identified in craniosynostotic syndromes to date either regulate transcription or are required for signal transduction and play a central role in the development of the calvarial sutures...
  19. ncbi request reprint AFX1 and p54nrb: fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism
    U Peters
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Hum Genet 100:569-72. 1997
    ..AFX1 and p54nrb were excluded as candidates of DYT3 by sequencing of the exons and the flanking intronic sequences in an XDP patient and a control, and by Northern blot analysis...
  20. ncbi request reprint Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene
    D Steinberger
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Hum Mutat 8:386-90. 1996
  21. ncbi request reprint Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia
    Daniela Steinberger
    Institut fur Humangenetik, Justus Liebig Universitat, Schlangenzahl 14, 35392 Giessen, Germany
    Neurogenetics 5:187-90. 2004
    ..This resulted in drastically reduced activity of sepiapterin reductase in the patient's fibroblasts. The findings indicate that haploinsufficiency of SPR can be a rare cause of DRD...
  22. pmc Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family
    Stephan Niemann
    Institute of Human Genetics, Justus Liebig University, Giessen, Germany
    Am J Hum Genet 74:558-63. 2004
    ..The identification of a WNT3 mutation in tetra-amelia indicates that WNT3 is required at the earliest stages of human limb formation and for craniofacial and urogenital development...
  23. pmc Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism
    Dagmar Nolte
    Institut fur Humangenetik, Justus Liebig Universitat, Schlangenzahl 14, 35392 Giessen, Germany
    Proc Natl Acad Sci U S A 100:10347-52. 2003
    ..This exon is used by all alternative transcripts making a pathogenic role of DSC3 in XDP likely. The multiple transcript system is therefore referred to as DYT3 (disease locus in XDP)...
  24. pmc A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly
    D Steinberger
    Institut für Humangenetik der Justus Liebig Universität, Giessen, Germany
    J Med Genet 34:420-2. 1997
    ..The unusual finding of plagiocephaly in these Crouzon patients may either be the result of the type of mutation or because of genetic and environmental factors that affect the phenotype in addition to the mutated FGF receptor...
  25. ncbi request reprint Genomic structure and complete sequence of the human FGFR4 gene
    M Kostrzewa
    Institut fur Humangenetik, Justus Liebig Universitat Giessen, Germany
    Mamm Genome 9:131-5. 1998
    ..The STRPs together with the sequence information will facilitate the rapid analysis of FGFR4 in those human disorders in which this gene can be considered a candidate...
  26. ncbi request reprint The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor
    D Steinberger
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Hum Genet 102:145-50. 1998
    ..The changes within these elements affect receptor function by various mechanisms, including altered dimerization, truncation, increased mobility between Ig domains, disintegration of IgIII, and alteration of the ligand-binding site...
  27. ncbi request reprint GCH1 mutation in a patient with adult-onset oromandibular dystonia
    D Steinberger
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Neurology 52:877-9. 1999
    ..The patient responded positively to treatment with L-dopa. These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia...
  28. ncbi request reprint Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene
    M Kostrzewa
    Institut fur Humangenetik, Justus Liebig Universitat Giessen, Germany
    Hum Mol Genet 3:2261-2. 1994
  29. doi request reprint Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy
    Birgit Zirn
    Institute of Human Genetics, University of Giessen, Giessen, Germany
    Am J Med Genet A 146:1049-54. 2008
    ..The p.R471C homozygous LMNA mutation causes a severe phenotype of the MAD spectrum. This case extends the clinical spectrum of MAD and further expands the phenotypic range of lamin A/C associated diseases...
  30. ncbi request reprint Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis
    Julia A Kress
    Department of Human Genetics, University of Giessen, Giessen, Germany
    Ann Neurol 58:800-3. 2005
    ..Disease progression is more rapid than in the ALS2 phenotype cases described to date. The patient's consanguineous parents carry the mutation in the heterozygous state as do his two unaffected brothers...
  31. ncbi request reprint Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis
    M Kostrzewa
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Hum Genet 98:48-50. 1996
    ..This mutation results in the substitution of an isoleucine for a threonine. It appears to affect formation of dimers of the protein and is the most C-terminal amino acid change in SOD1 described to date...
  32. ncbi request reprint Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group
    D Steinberger
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Neurology 55:1735-7. 2000
    ..There was no mutation in the promoter region of GCH1 in any patient. The doses of L-dopa given to members of the two groups were not significantly different...
  33. ncbi request reprint Locus heterogeneity in Friedreich ataxia
    M Kostrzewa
    Institut für Humangenetik der Justus Liebig Universität, Giessen, Germany
    Neurogenetics 1:43-7. 1997
    ..The observation of typical mutations in STM7/X25 (GAA expansions) in this patient demonstrates that the two genetically different forms of FRDA cannot be distinguished clinically...
  34. doi request reprint Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)
    B Zirn
    Institute of Human Genetics, Schlangenzahl 14, D 35392 Giessen, Germany
    J Neurol Neurosurg Psychiatry 79:1327-30. 2008
    ..The three-nucleotide deletion, triangle upGAG (within the gene TOR1A), is the only proven cause of childhood-onset dystonia (DYT1). A potentially pathogenic role of additional sequence changes within TOR1A has not been conclusively shown...
  35. ncbi request reprint Mutations in SDHC cause autosomal dominant paraganglioma, type 3
    S Niemann
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Nat Genet 26:268-70. 2000
    ..Between 10% and 50% of cases are familial and are transmitted as autosomal dominant traits with incomplete and age-dependent penetrance...
  36. ncbi request reprint Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC
    Stephan Niemann
    Institut fur Humangenetik, Justus Liebig Universitat, Schlangenzahl 14, 35392, Giessen, Germany
    Hum Genet 113:92-4. 2003
    ..The mutation is a G-->T transversion at position +1 of intron 5 of the SDHC gene, leading to the deletion of exon 5 and a shift in the reading frame...
  37. ncbi request reprint Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma
    S Niemann
    , , Giessen, Germany
    Am J Med Genet 98:32-6. 2001
    ..25 at 1q21-q23 (marker D1S2675); 2) haplotype analysis was most consistent for 1q21-q23 markers; and 3) the locus was excluded from more than 97% of the genome using a total of 381 highly polymorphic markers...
  38. ncbi request reprint ACRC codes for a novel nuclear protein with unusual acidic repeat tract and maps to DYT3 (dystonia parkinsonism) critical interval in xq13.1
    D Nolte
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Neurogenetics 3:207-13. 2001
    ....
  39. ncbi request reprint SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures
    K Ebach
    Department of Neuropediatrics, University of Giessen, Giessen, Germany
    Neuropediatrics 36:210-3. 2005
    ..We conclude that, independent of precise syndromic delineation, myoclonic-astatic seizures are not predictive of SCN1A mutations in sporadic myoclonic epilepsies of infancy and early childhood...