Matthias Baumann

Summary

Affiliation: Innsbruck Medical University
Country: Austria

Publications

  1. pmc Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
    Matthias Baumann
    Department of Paediatrics IV Neonatology, Paediatric Neurology and Inherited Metabolic Disorders, Innsbruck Medical University, Austria
    Am J Hum Genet 90:201-16. 2012
  2. doi request reprint Uncommon manifestations of neuroborreliosis in children
    Matthias Baumann
    Department of Pediatrics, Division of Pediatric Neurology and Inherited Metabolic Disorders, Medical University of Innsbruck, Anichstrasse 35, A 6020 Innsbruck, Austria
    Eur J Paediatr Neurol 14:274-7. 2010
  3. doi request reprint A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants
    Matthias Baumann
    Department of Paediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria
    Clin Genet . 2017
  4. pmc Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation
    Matthias Baumann
    Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria
    Eur J Hum Genet 25:262-266. 2017
  5. doi request reprint Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy
    Birgit Krabichler
    Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Medical University Innsbruck, Austria
    Ann Hum Genet 76:326-31. 2012

Collaborators

Detail Information

Publications5

  1. pmc Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
    Matthias Baumann
    Department of Paediatrics IV Neonatology, Paediatric Neurology and Inherited Metabolic Disorders, Innsbruck Medical University, Austria
    Am J Hum Genet 90:201-16. 2012
    ..FKBP14 mutation analysis should be considered in all individuals with apparent kyphoscoliotic type of EDS and normal urinary pyridinoline excretion, in particular in conjunction with sensorineural hearing impairment...
  2. doi request reprint Uncommon manifestations of neuroborreliosis in children
    Matthias Baumann
    Department of Pediatrics, Division of Pediatric Neurology and Inherited Metabolic Disorders, Medical University of Innsbruck, Anichstrasse 35, A 6020 Innsbruck, Austria
    Eur J Paediatr Neurol 14:274-7. 2010
    ..Thus, diagnostic work up in children with unusual neurological symptoms should include cerebrospinal fluid studies with determination of the white blood cell count and calculation of the antibody index against B. burgdorferi...
  3. doi request reprint A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants
    Matthias Baumann
    Department of Paediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria
    Clin Genet . 2017
    ..Our observation of a second case supports the notion that bi-allelic mutations in SEMA3A cause an autosomal recessive type of syndromic short stature...
  4. pmc Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation
    Matthias Baumann
    Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria
    Eur J Hum Genet 25:262-266. 2017
    ..There is a SYNE1 genotype-phenotype correlation emerging, with more proximal homozygous SYNE1 variants causing recessive cerebellar ataxia of variable onset (SCAR8; ARCA-1)...
  5. doi request reprint Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy
    Birgit Krabichler
    Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Medical University Innsbruck, Austria
    Ann Hum Genet 76:326-31. 2012
    ..Sequence analysis revealed a novel homozygous missense mutation (p.R94W) in a highly conserved segment of exon 2. This is the second family with PME caused by KCTD7 mutations, hence KCTD7 mutations might be a recurrent cause of PME...