M Schuelke

Summary

Affiliation: Humboldt University
Country: Germany

Publications

  1. ncbi request reprint Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation
    Markus Schuelke
    Department Neuropediatrics, Charite University Hospital, Berlin, Germany
    Ann Neurol 51:388-92. 2002
  2. ncbi request reprint Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities
    Claudia Weiss
    Department of Neuropediatrics, Charite University Medical Center, Augustenburger Platz 1, D 13353 Berlin, Germany
    Muscle Nerve 35:396-401. 2007
  3. pmc HomozygosityMapper--an interactive approach to homozygosity mapping
    Dominik Seelow
    Department of Neuropaediatrics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, D 13353 Berlin, Germany
    Nucleic Acids Res 37:W593-9. 2009
  4. doi request reprint CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts
    Ellen Knierim
    NeuroCure Clinical Research Center, Berlin, Germany
    J Med Genet 50:529-33. 2013
  5. pmc CARbon DIoxide for the treatment of Febrile seizures: rationale, feasibility, and design of the CARDIF-study
    Stephanie Ohlraun
    NeuroCure Clinical Research Center, Charite Universitatsmedizin Berlin, Berlin, Germany
    J Transl Med 11:157. 2013
  6. ncbi request reprint New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods
    Markus Schuelke
    Department of Neuropediatrics, Charité Virchow University Hospital, Augustenburger Platz 1, D 13353 Berlin, Germany
    Clin Chem 48:772-5. 2002
  7. ncbi request reprint Myostatin mutation associated with gross muscle hypertrophy in a child
    Markus Schuelke
    Department of Neuropediatrics, Charite, University Medical Center Berlin, Berlin, Germany
    N Engl J Med 350:2682-8. 2004
  8. ncbi request reprint Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy
    M Schuelke
    Department of Neuropediatrics Charité, Humboldt University, Berlin, Germany
    Neurology 55:1584-6. 2000
  9. ncbi request reprint An economic method for the fluorescent labeling of PCR fragments
    M Schuelke
    Department of Neuropediatrics, Charite University Hospital, Augustenburger Platz 1, D 13353 Berlin, Germany
    Nat Biotechnol 18:233-4. 2000
  10. ncbi request reprint Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy
    B Kerst
    Department of Neuropaediatrics, Humboldt University, Charite, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany
    Neuromuscul Disord 10:572-7. 2000

Detail Information

Publications39

  1. ncbi request reprint Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation
    Markus Schuelke
    Department Neuropediatrics, Charite University Hospital, Berlin, Germany
    Ann Neurol 51:388-92. 2002
    ..A HESX1 mutation was excluded as a cause of his septo-optic dysplasia. Low alpha-tocopherol concentrations in his muscles and an elevated urinary leukotriene E(4) excretion indicate increased production of reactive oxygen species...
  2. ncbi request reprint Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities
    Claudia Weiss
    Department of Neuropediatrics, Charite University Medical Center, Augustenburger Platz 1, D 13353 Berlin, Germany
    Muscle Nerve 35:396-401. 2007
    ..In conclusion, we present a case of DMD that conflicts with current understanding of genotype-phenotype relations and discuss putative pathogenetic mechanisms for this uncommon phenotype...
  3. pmc HomozygosityMapper--an interactive approach to homozygosity mapping
    Dominik Seelow
    Department of Neuropaediatrics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, D 13353 Berlin, Germany
    Nucleic Acids Res 37:W593-9. 2009
    ..They can at any point restrict access to their data or make it public, allowing HomozygosityMapper to be used as a data repository for homozygosity-mapping studies. HomozygosityMapper is available at http://www.homozygositymapper.org/...
  4. doi request reprint CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts
    Ellen Knierim
    NeuroCure Clinical Research Center, Berlin, Germany
    J Med Genet 50:529-33. 2013
    ..Hence, we set out to create software that accumulates and visualises locus-specific knowledge and enables clinicians to study their own CNVs in the context of known polymorphisms and disease variants...
  5. pmc CARbon DIoxide for the treatment of Febrile seizures: rationale, feasibility, and design of the CARDIF-study
    Stephanie Ohlraun
    NeuroCure Clinical Research Center, Charite Universitatsmedizin Berlin, Berlin, Germany
    J Transl Med 11:157. 2013
    ..Here, we present the protocol for an interventional clinical trial to test the hypothesis that the application of 5% CO2 is effective and safe to suppress febrile seizures in children...
  6. ncbi request reprint New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods
    Markus Schuelke
    Department of Neuropediatrics, Charité Virchow University Hospital, Augustenburger Platz 1, D 13353 Berlin, Germany
    Clin Chem 48:772-5. 2002
  7. ncbi request reprint Myostatin mutation associated with gross muscle hypertrophy in a child
    Markus Schuelke
    Department of Neuropediatrics, Charite, University Medical Center Berlin, Berlin, Germany
    N Engl J Med 350:2682-8. 2004
  8. ncbi request reprint Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy
    M Schuelke
    Department of Neuropediatrics Charité, Humboldt University, Berlin, Germany
    Neurology 55:1584-6. 2000
    ....
  9. ncbi request reprint An economic method for the fluorescent labeling of PCR fragments
    M Schuelke
    Department of Neuropediatrics, Charite University Hospital, Augustenburger Platz 1, D 13353 Berlin, Germany
    Nat Biotechnol 18:233-4. 2000
    ..A poor man's approach to genotyping for research and high-throughput diagnostics...
  10. ncbi request reprint Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy
    B Kerst
    Department of Neuropaediatrics, Humboldt University, Charite, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany
    Neuromuscul Disord 10:572-7. 2000
    ..This mutation is normally associated with a mild to moderate course of Becker muscular dystrophy but the father suffered from a severe course of Becker muscular dystrophy suggesting MYF6 as a modifier...
  11. ncbi request reprint Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1
    Anne Katrin Detjen
    Department of Neuropediatrics, Charite, University Medical Center, Berlin, Germany
    Twin Res Hum Genet 10:486-95. 2007
    ..The phenotypic discordance of MZ twins with NF1 cannot be explained by skewed distribution of mtDNA mutations or polymorphisms...
  12. doi request reprint [Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)]
    A M Kaindl
    Charite, Service de Neuropediatrie, Hopital Universitaire, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Allemagne
    Arch Pediatr 15:1568-72. 2008
    ....
  13. ncbi request reprint Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency
    M Schuelke
    Charite University Hospital, Department of Neuropediatrics, Clinic of Child and Adolescent Psychiatry, Psychosomatic and Psychotherapy, Berlin, Germany
    J Pediatr 134:240-4. 1999
    ..After initiation of high-dosage alpha-tocopherol therapy, the organic mental syndrome disappeared and cognitive function improved rapidly. Neurologic recovery, however, was slow and incomplete...
  14. ncbi request reprint Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
    K Grohmann
    Department of Neuropediatrics, Charite, Campus Virchow Klinikum, Humboldt University, 13353 Berlin, Germany
    Nat Genet 29:75-7. 2001
    ..Our results show that IGHMBP2 is the second gene found to be defective in spinal muscular atrophy, and indicate that IGHMBP2 and SMN share common functions important for motor neuron maintenance and integrity in mammals...
  15. ncbi request reprint Increased mRNA expression of tissue inhibitors of metalloproteinase-1 and -2 in Duchenne muscular dystrophy
    Arpad von Moers
    Department of Neuropediatrics, Charite, University Medical Center Berlin, Augustenburger Platz 1, 13353, Berlin, Germany
    Acta Neuropathol 109:285-93. 2005
    ..TIMP-1 should be investigated further as a promising target for pharmacological intervention to prevent muscle fibrosis in DMD...
  16. pmc GeneDistiller--distilling candidate genes from linkage intervals
    Dominik Seelow
    Department of Neuropaediatrics, Charite University Medical School, Berlin, Germany
    PLoS ONE 3:e3874. 2008
    ..Automatic solutions on the other hand usually focus on certain models, remain "black boxes" and do not offer the same degree of flexibility...
  17. ncbi request reprint Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing
    Anja Brinckmann
    Department of Neuropediatrics, Charite University Medical School, Berlin, Germany
    Electrophoresis 28:4295-301. 2007
    ..Diagnostic laboratories could thus exploit this effect for rapid prescreening for NF1 mutations as more than 60% of the mutations in this gene disrupt the reading frame and are prone to NMD...
  18. ncbi request reprint Prenatal manifestation of pancytopenia in Pearson marrow-pancreas syndrome caused by a mitochondrial DNA deletion
    Almut Giese
    Department of Pediatric Oncology Hematology, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Berlin, Germany
    Am J Med Genet A 143:285-8. 2007
  19. ncbi request reprint Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients. Mutations in brief no.
    H Peters
    Institute of Medical Genetics, Humboldt University, Medical School Charite, Berlin, Germany
    Hum Mutat 13:258. 1999
    ..This question was given consideration in this investigation, but none of the children involved have yet shown any symptoms of myeloid leukemia. 4 out of the 6 mutations were de novo...
  20. ncbi request reprint Muscle and nerve pathology in Dunnigan familial partial lipodystrophy
    S Spuler
    Muscle Research Group, Department of Neurology, Medical Faculty of the Charite, Berlin, Germany
    Neurology 68:677-83. 2007
    ..To characterize muscle and nerve pathology in Dunnigan familial partial lipodystrophy (FPLD)...
  21. doi request reprint Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)
    A Sarpong
    Department of Neuropediatrics, University Medical School Berlin, Berlin, Germany
    Clin Genet 76:38-45. 2009
    ..We discuss a potential residual catalytic function of the truncated protein as a cause for the mild phenotype...
  22. ncbi request reprint De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease
    Anja Brinckmann
    Department of Biology, Chemistry and Pharmacy, Free University Berlin, Berlin, Germany
    J Mol Med (Berl) 85:163-8. 2007
    ..The degree of mutant mtDNA heteroplasmy, as determined by a very accurate pyrosequencing assay, varies between 31% (muscle) and 38% (fibroblasts). We discuss a potential effect of the PAX6 mutation on the mtDNA mutation rate...
  23. ncbi request reprint Genetic deafness in a preterm infant with a critical postnatal course
    Petra S Koehne
    Department of Neonatology, Charite, Campus Virchow Klinikum, Humboldt University, Berlin, Germany
    Pediatr Crit Care Med 7:270-2. 2006
    ..We describe the severe postnatal course and review the relevant literature...
  24. doi request reprint Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease
    Ulf Peter Guenther
    Department of Neuropediatrics, Charité University Medical School of Berlin, Augustenburger Platz 1, 13353, Berlin, Germany
    J Mol Med (Berl) 87:31-41. 2009
    ..Our data further suggest that the age of onset of DSMA1 is variable, and we discuss the effect of residual IGHMBP2 protein levels on the clinical course and the severity of the disease...
  25. doi request reprint Comparative analysis of uncoupling protein 4 distribution in various tissues under physiological conditions and during development
    Alina Smorodchenko
    Institute of Cell Biology and Neurobiology, Charite Universitatsmedizin, Berlin, Germany
    Biochim Biophys Acta 1788:2309-19. 2009
    ..UCP4 preferential expression in neurons and its developmental expression pattern under physiological conditions may indicate a specific protein function, e.g. in neuronal cell differentiation...
  26. doi request reprint Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil
    Ellen Knierim
    Department of Neuropediatrics, Charite Universitatsmedizin Berlin, D 13353 Berlin, Germany
    Stroke 42:e14-7. 2011
    ..Treatment was instantly effective and prevented a new stroke...
  27. pmc Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease
    Birgit Uhlenberg
    Department of Neuropediatrics, Charite, University Medical School of Berlin, Berlin, Germany
    Am J Hum Genet 75:251-60. 2004
    ..In this study, we demonstrate that GJA12 plays a key role in central myelination and is involved in peripheral myelination in humans...
  28. ncbi request reprint Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation
    Monika B Hartig
    Institute of Human Genetics, GSF National Research Center for Environment and Health, Neuherberg, Germany
    Ann Neurol 59:248-56. 2006
    ..Both missense and nonsense mutations have been found in such patients in a gene encoding the mitochondrial pantothenate kinase (PANK2)...
  29. ncbi request reprint Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis
    Ulf Peter Guenther
    Department of Biology, Chemistry, and Pharmacy, Free University of Berlin, Germany
    Hum Mutat 28:808-15. 2007
    ..The c.1235+3A>G splice-site mutation did not entirely suppress correct splicing and we found a residual wild-type IGHMBP2 mRNA steady-state level of 24.4+/-6.9%, which was, however, not sufficient to avert SMARD1 in this patient...
  30. ncbi request reprint Mammalian mitochondrial nitric oxide synthase: characterization of a novel candidate
    Tomasz Zemojtel
    Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D 14195 Berlin, Germany
    FEBS Lett 580:455-62. 2006
    ..The expression data suggest that a candidate for mammalian mitochondrial nitric oxide synthase contributes to multiple physiological processes during embryogenesis, which may include roles in liver haematopoesis and bone development...
  31. ncbi request reprint A new mutation of IGHMBP2 gene
    Ulf P Guenther
    Pediatr Neurol 34:168. 2006
  32. doi request reprint Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation
    Artur Mazur
    Institute of Physiotherapy, University of Rzeszow, Poland
    Horm Res 69:363-8. 2008
    ..Description of the clinical, biochemical and genetic features of a Polish patient with familial glucocorticoid deficiency...
  33. doi request reprint Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system
    Antoon J M Janssen
    Department of Pediatrics and Laboratory of Pediatrics and Neurology, Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands
    Ann Neurol 63:473-81. 2008
    ....
  34. pmc Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency
    Catarina M Quinzii
    Department of Neurology, Columbia University Medical Center, New York, New York 10032, USA
    FASEB J 22:1874-85. 2008
    ....
  35. pmc The spectrum of WRN mutations in Werner syndrome patients
    Shurong Huang
    Department of Pathology, University of Washington, Seattle, Washington 98195 7470, USA
    Hum Mutat 27:558-67. 2006
    ..These, as well as inducible and complemented hTERT (catalytic subunit of human telomerase) immortalized skin fibroblast cell lines are available to qualified investigators...
  36. pmc Lack of myostatin results in excessive muscle growth but impaired force generation
    Helge Amthor
    Department of Paediatrics, University Hospital of Essen, Essen, Germany
    Proc Natl Acad Sci U S A 104:1835-40. 2007
    ..Overall, our results suggest that lack of myostatin compromises force production in association with loss of oxidative characteristics of skeletal muscle...
  37. pmc Identification of small non-coding RNAs from mitochondria and chloroplasts
    Birgit Lung
    Innsbruck Biocenter, Division of Genomics and RNomics, Innsbruck Medical University, Fritz Pregl Strasse 3, 6020 Innsbruck, Austria
    Nucleic Acids Res 34:3842-52. 2006
    ..The absence from our libraries of abundant small RNA species that are not encoded by the organellar genomes suggests that the import of RNAs into cell organelles is of very limited significance or does not occur at all...
  38. pmc Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations
    Luis Carlos López
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Am J Hum Genet 79:1125-9. 2006
    ..This is the first description of pathogenic mutations in PDSS2 and confirms the molecular and clinical heterogeneity of primary CoQ(10) deficiency...
  39. ncbi request reprint Localization of alpha-tocopherol transfer protein in trophoblast, fetal capillaries' endothelium and amnion epithelium of human term placenta
    Katrin Müller-Schmehl
    Germany Institute of Human Nutrition, Potsdam Rehbrucke, Germany
    Free Radic Res 38:413-20. 2004
    ..In amnion epithelial cells, however, TTPA was predominantly located in the nuclei. Nuclear localization of the protein may represent a novel function of TTPA...