W Kress

Summary

Country: Germany

Publications

  1. pmc Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial
    Maggie C Walter
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Ziemssenstr 1a, Munich 80336, Germany
    Orphanet J Rare Dis 8:26. 2013
  2. pmc Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report
    Clemens Neusch
    Department of Neurology, University of Ulm, Ulm, 89081, Germany
    J Med Case Rep 6:345. 2012
  3. ncbi request reprint Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome
    Wolfram Kress
    Institute of Human Genetics, University of Wurzburg, Wurzburg, Germany
    Eur J Hum Genet 14:39-48. 2006
  4. ncbi request reprint An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly
    W Kress
    Department of Human Genetics, University of Wurzburg, Wurzburg, Germany
    Cytogenet Cell Genet 91:138-40. 2000
  5. ncbi request reprint Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses)
    W Kress
    Department of Human Genetics, University of Wurzburg, Germany
    Cytogenet Cell Genet 91:134-7. 2000
  6. ncbi request reprint Allelic heterogeneity of alkaptonuria in Central Europe
    C R Muller
    Department of Human Genetics, University of Wurzburg, Biozentrum, Germany
    Eur J Hum Genet 7:645-51. 1999
  7. ncbi request reprint The genetic defect of the alkaptonuric mouse (aku)
    W Kress
    Department of Human Genetics, University of Wurzburg, Biozentrum, Am Hubland, D 97074 Wurzburg, Germany
    Mamm Genome 10:68-70. 1999
  8. ncbi request reprint Proximal myotonic myopathy: evidence for anticipation in families with linkage to chromosome 3q
    C Schneider
    Department of Neurology, University of Wurzburg, Germany
    Neurology 55:383-8. 2000
  9. ncbi request reprint Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouse
    S R Schmidt
    Department of Human Genetics, University of Wurzburg, Biozentrum, D 97074 Wurzburg, Germany
    Mamm Genome 8:168-71. 1997
  10. pmc Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene
    U Felbor
    Augenklinik, Universitat Wurzburg, Wurzburg, Germany
    Br J Ophthalmol 83:680-3. 1999

Collaborators

Detail Information

Publications38

  1. pmc Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial
    Maggie C Walter
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Ziemssenstr 1a, Munich 80336, Germany
    Orphanet J Rare Dis 8:26. 2013
    ..DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B)...
  2. pmc Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report
    Clemens Neusch
    Department of Neurology, University of Ulm, Ulm, 89081, Germany
    J Med Case Rep 6:345. 2012
    ..abstract:..
  3. ncbi request reprint Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome
    Wolfram Kress
    Institute of Human Genetics, University of Wurzburg, Wurzburg, Germany
    Eur J Hum Genet 14:39-48. 2006
    ..Contrary to previous reports, SCS patients with complete loss of one TWIST allele showed normal mental development...
  4. ncbi request reprint An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly
    W Kress
    Department of Human Genetics, University of Wurzburg, Wurzburg, Germany
    Cytogenet Cell Genet 91:138-40. 2000
    ..Here the mutational screening of ten patients in the FGFR1, 2, and 3 genes and the TWIST gene causative of autosomal dominant craniosynostosis syndromes was reported. In one girl an unusual FGFR1 mutation was found...
  5. ncbi request reprint Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses)
    W Kress
    Department of Human Genetics, University of Wurzburg, Germany
    Cytogenet Cell Genet 91:134-7. 2000
    ..In the 10 familial cases, the clinical presentation varied considerably within the pedigree, but both syndromes "bred true," i.e., a Pfeiffer syndrome phenotype was never observed in a Crouzon syndrome family and vice versa...
  6. ncbi request reprint Allelic heterogeneity of alkaptonuria in Central Europe
    C R Muller
    Department of Human Genetics, University of Wurzburg, Biozentrum, Germany
    Eur J Hum Genet 7:645-51. 1999
    ....
  7. ncbi request reprint The genetic defect of the alkaptonuric mouse (aku)
    W Kress
    Department of Human Genetics, University of Wurzburg, Biozentrum, Am Hubland, D 97074 Wurzburg, Germany
    Mamm Genome 10:68-70. 1999
  8. ncbi request reprint Proximal myotonic myopathy: evidence for anticipation in families with linkage to chromosome 3q
    C Schneider
    Department of Neurology, University of Wurzburg, Germany
    Neurology 55:383-8. 2000
    ..To investigate anticipation in proximal myotonic myopathy (PROMM)...
  9. ncbi request reprint Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouse
    S R Schmidt
    Department of Human Genetics, University of Wurzburg, Biozentrum, D 97074 Wurzburg, Germany
    Mamm Genome 8:168-71. 1997
    ..We therefore conclude that the HGO cDNA encodes the gene responsible for alkaptonuria...
  10. pmc Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene
    U Felbor
    Augenklinik, Universitat Wurzburg, Wurzburg, Germany
    Br J Ophthalmol 83:680-3. 1999
    ..To assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with ochronosis of the conjunctiva, sclera, and cornea...
  11. ncbi request reprint Hyperparathyroidism in a patient with proximal myotonic myopathy (PROMM)
    C Schneider
    Department of Neurology, University of Wurzburg, Josef Schneider Strasse 11, 97080, Wurzburg, Germany
    Neuromuscul Disord 10:481-3. 2000
    ..She also suffered from primary hyperparathyroidism. A biopsy of the left deltoid muscle showed vacuoles as an unusual histopathological finding...
  12. ncbi request reprint Genomic sequence and organization of the human gene for cytochrome c oxidase subunit (COX7A1) VIIa-M
    W Wolz
    Department of Human Genetics, Biocenter, Am Hubland, Wuerzburg, D 97074, Germany
    Genomics 45:438-42. 1997
    ..Knowledge of the gene structure will facilitate the analysis of the involvement of subunit VIIa in mitochondrial myopathies and may provide clues to the function of this subunit in a multicomponent enzyme...
  13. ncbi request reprint Linkage of proximal myotonic myopathy to chromosome 3q
    K Ricker
    Department of Neurology, University of Wurzburg, Germany
    Neurology 52:170-1. 1999
    ..Two-point analysis supplied an lod score of 5.9. We conclude that a gene causing PROMM is located on chromosome 3q. PROMM and DM2 may be allelic disorders or may be caused by closely linked genes...
  14. ncbi request reprint Intolerance to neuroleptics and susceptibility for malignant hyperthermia in a patient with proximal myotonic myopathy (PROMM) and schizophrenia
    C Schneider
    Department of Neurology, University of Wurzburg, Josef Schneider Strasse 11, 97080 Wurzburg, Germany
    Neuromuscul Disord 12:31-5. 2002
    ..Thus, in patients with all kinds of multisystemic myotonic myopathies, a susceptibility for malignant hyperthermia and intolerance towards neuroleptics should be taken into account...
  15. ncbi request reprint The human gene for alkaptonuria (AKU) maps to chromosome 3q
    S Janocha
    Department of Human Genetics, University of Wurzburg, Federal Republic of Germany
    Genomics 19:5-8. 1994
    ..A mutation causing alkaptonuria in the mouse has mapped to chromosome 16. Considering conserved synteny, we were able to map the human gene to chromosome 3q in six alkaptonuria pedigrees of Slovak origin...
  16. pmc Why a positive genetic test for myotonic dystrophy type I does not always imply the right diagnosis
    S G Meuth
    J Neurol Neurosurg Psychiatry 77:1381-2. 2006
  17. ncbi request reprint Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P
    M C Walter
    Friedrich Baur Institute, Ludwig Maximilians University of Munich, Department of Neurology, Munich, Germany
    Brain 130:1485-96. 2007
    ..In addition, mutations of the desmin gene should be considered early in the diagnostic work-up of any adult-onset, dominant myopathy, even if specific myofibrillar pathology is absent...
  18. ncbi request reprint Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome
    I Wieland
    Institut fur Humangenetik, Otto von Guericke Universitat, Magdeburg, Germany
    Clin Genet 72:506-16. 2007
    ..It is important for genetic counseling to be aware that their male offspring may not only be carriers of CFNS but may also be affected by mental retardation and anhidrotic ectodermal dysplasia...
  19. pmc Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region
    A Tagariello
    J Med Genet 43:534-40. 2006
    ..The present case is one of the very rare reports of an apparently balanced translocation in a patient with syndromic craniosynostosis, and reveals novel candidate genes for craniosynostoses and cranial suture formation...
  20. ncbi request reprint Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
    A L Schulz
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Clin Genet 73:62-70. 2008
    ....
  21. ncbi request reprint Partial craniosynostosis in a patient with deletion 22q11
    J Karteszi
    Genet Couns 15:481-3. 2004
  22. ncbi request reprint Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum
    J W Day
    Institute of Human Genetics, Department of Neurology, University of Minnesota School of Medicine, Minneapolis, MN 55455, USA
    Neurology 60:657-64. 2003
    ..The authors have characterized the clinical and molecular features of DM2/PROMM, which is caused by a CCTG repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene...
  23. pmc Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
    O Bartsch
    J Med Genet 39:496-501. 2002
  24. ncbi request reprint Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center
    J Laporte
    IGBMC, CNRS INSERM ULP, Illkirch, France
    Hum Mol Genet 6:1505-11. 1997
    ..Additional mutations are missenses clustered in two regions of the protein. Most of these affect amino acids conserved in the homologous yeast and Caenorhabditis elegans proteins, thus indicating the presence of other functional domains...
  25. ncbi request reprint Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
    C L Liquori
    Institute of Human Genetics MMC 206, 420 Delaware Street SE, University of Minnesota, Minneapolis, MN 55455, USA
    Science 293:864-7. 2001
    ..Parallels between these mutations indicate that microsatellite expansions in RNA can be pathogenic and cause the multisystemic features of DM1 and DM2...
  26. ncbi request reprint Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease
    S Bione
    Istituto di Genetica Biochimica ed Evoluzionistica CNR, Pavia, Italy
    Hum Mol Genet 4:1859-63. 1995
    ..Our findings suggest genetic heterogeneity of EDMD, and that at least two genes, the X-linked STA gene and one unidentified autosomal gene, are responsible for the disease...
  27. ncbi request reprint Molecular defects in alkaptonuria
    A Gehrig
    Institut fur Humangenetik, Universitat Wurzburg, Germany
    Cytogenet Cell Genet 76:14-6. 1997
    ..The data formally establish the homogentisate 1,2 dioxygenase gene (HGD) as the molecular cause of alkaptonuria and allow for the development of molecular carrier tests in populations at risk...
  28. ncbi request reprint Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor (FGFR)-2 gene
    C Schulz
    German Heart Center and 1st Department of Medicine, Klinikum rechts der Isar, University of Technology, Lazarettstrasse 36, 80636 Munich, Germany
    Clin Genet 72:305-7. 2007
    ..The findings suggest that cardiac investigations are warranted in patients with a diagnosis of Crouzon syndrome...
  29. doi request reprint Novel RYR1 missense mutation causes core rod myopathy
    M von der Hagen
    Eur J Neurol 15:e31-2. 2008
  30. doi request reprint Late onset in dysferlinopathy widens the clinical spectrum
    L Klinge
    Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom
    Neuromuscul Disord 18:288-90. 2008
    ..This case represents the eldest age of onset of dysferlinopathy reported so far and widens the clinical spectrum of this disease...
  31. pmc Distinct muscle imaging patterns in myofibrillar myopathies
    D Fischer
    Department of Neurology, University Hospital Basel, Switzerland
    Neurology 71:758-65. 2008
    ..To compare muscle imaging findings in different subtypes of myofibrillar myopathies (MFM) in order to identify characteristic patterns of muscle alterations that may be helpful to separate these genetic heterogeneous muscular disorders...
  32. ncbi request reprint Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis
    M von der Hagen
    Department of Neuropaediatrics, Technical University, 01307 Dresden, Germany
    Neuromuscul Disord 16:4-13. 2006
    ..This highlights the effective application of this approach both for diagnostic strategies as well as for the identification of new loci and genes...
  33. ncbi request reprint Novel mutations in the calpain 3 gene in Germany
    A Todorova
    Clin Genet 67:356-8. 2005
  34. ncbi request reprint Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome
    S Driess
    Medizinisches Zentrum für Humangenetik, Philipps Universitat Marburg, 35037, Germany
    Hum Genet 112:103. 2003
  35. ncbi request reprint A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation
    M Vorgerd
    Department of Neurology, Ruhr University, Bochum, Germany
    Neurology 57:2273-7. 2001
    ..To determine the cause of sporadic rippling muscle disease (RMD) in a 24-year-old patient...
  36. ncbi request reprint MTM1 mutations in X-linked myotubular myopathy
    J Laporte
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM ULP, Illkirch, France
    Hum Mutat 15:393-409. 2000
    ..While most truncating mutations cause the severe and early lethal phenotype, some missense mutations are associated with milder forms and prolonged survival (up to 54 years)...
  37. ncbi request reprint Distribution of emerin during the cell cycle
    M C Dabauvalle
    Department of Cell and Developmental Biology, Biocenter of the University of Wurzburg, Germany
    Eur J Cell Biol 78:749-56. 1999
    ..Our data suggest that emerin participates in the reorganisation of the nuclear envelope at the end of mitosis...
  38. ncbi request reprint X-linked centronuclear myopathy: mapping the gene to Xq28
    S Liechti-Gallati
    Department of Pediatrics Inselspital, University of Berne, Switzerland
    Neuromuscul Disord 1:239-45. 1991
    ..The lack of information about gene frequency and mutation rate as well as the severity and burden of the disease point to the inevitable need for accurate clinical diagnosis...