M Deschauer

Summary

Affiliation: Martin Luther University
Country: Germany

Publications

  1. ncbi request reprint A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency
    Marcus Deschauer
    Department of Neurology, Martin Luther Universitat Halle Wittenberg, Ernst Grube Strasse 40, 06097 Halle Saale, Germany
    Mol Genet Metab 75:181-5. 2002
  2. 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
  3. doi request reprint C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis
    M Deschauer
    Department of Neurology, Martin Luther University Halle Wittenberg, Ernst Grube Str 40, 06097, Halle Saale, Germany
    J Neurol 259:2434-9. 2012
  4. ncbi request reprint [Bilateral inferior hemianopsia as an early symptom of Heidenhain type Creutzfeldt-Jakob disease]
    M Deschauer
    Klinik und Poliklinik fur Neurologie, Martin Luther Universitat Halle Wittenberg, Deutschland
    Klin Monbl Augenheilkd 216:227-31. 2000
  5. ncbi request reprint False-positive diagnosis of a single, large-scale mitochondrial DNA deletion by Southern blot analysis: the role of neutral polymorphisms
    Marcus Deschauer
    Department of Neurology, Martin Luther University Halle Wittenberg, 06097, Halle Saale, Germany
    Genet Test 8:395-9. 2004
  6. ncbi request reprint A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia
    Marcus Deschauer
    Department of Neurology, Martin Luther University Halle Wittenberg, Halle Saale, Germany
    Neuromuscul Disord 15:311-5. 2005
  7. ncbi request reprint Molecular and biochemical investigations in fumarase deficiency
    M Deschauer
    Neurologische Klinik der Universität Halle Wittenberg, Germany
    Mol Genet Metab 88:146-52. 2006
  8. ncbi request reprint Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations
    M Deschauer
    Klinik und Poliklinik fur Neurologie, Martin Luther Universitat Halle Wittenberg, Ernst Grube Str 40, 06097 Halle Saale, Germany
    J Neurol 254:797-802. 2007
  9. doi request reprint [Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings]
    M Deschauer
    Klinik und Poliklinik fur Neurologie, Martin Luther Universitat Halle Wittenberg, Ernst Grube Str 40, 06097 Halle Saale, Deutschland
    Nervenarzt 82:1596-603. 2011
  10. ncbi request reprint Two novel mutations in the myophosphorylase gene in a patient with McArdle disease
    Marcus Deschauer
    Department of Neurology, Martin Luther Universitat Halle Wittenberg, Ernst Grube Str 40, 06097 Halle Saale, Germany
    Muscle Nerve 27:105-7. 2003

Collaborators

Detail Information

Publications44

  1. ncbi request reprint A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency
    Marcus Deschauer
    Department of Neurology, Martin Luther Universitat Halle Wittenberg, Ernst Grube Strasse 40, 06097 Halle Saale, Germany
    Mol Genet Metab 75:181-5. 2002
    ..Our data further expand the genetic heterogeneity in patients with CPT II deficiency...
  2. 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)...
  3. doi request reprint C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis
    M Deschauer
    Department of Neurology, Martin Luther University Halle Wittenberg, Ernst Grube Str 40, 06097, Halle Saale, Germany
    J Neurol 259:2434-9. 2012
    ..Patients have to be examined carefully for neuropsychological abnormalities, optic neuropathy, and signs of brain iron accumulation in MRI...
  4. ncbi request reprint [Bilateral inferior hemianopsia as an early symptom of Heidenhain type Creutzfeldt-Jakob disease]
    M Deschauer
    Klinik und Poliklinik fur Neurologie, Martin Luther Universitat Halle Wittenberg, Deutschland
    Klin Monbl Augenheilkd 216:227-31. 2000
    ..The Heidenhain variant is a subtype of Creutzfeldt-Jakob disease (CJD) where visual symptoms are leading...
  5. ncbi request reprint False-positive diagnosis of a single, large-scale mitochondrial DNA deletion by Southern blot analysis: the role of neutral polymorphisms
    Marcus Deschauer
    Department of Neurology, Martin Luther University Halle Wittenberg, 06097, Halle Saale, Germany
    Genet Test 8:395-9. 2004
    ....
  6. ncbi request reprint A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia
    Marcus Deschauer
    Department of Neurology, Martin Luther University Halle Wittenberg, Halle Saale, Germany
    Neuromuscul Disord 15:311-5. 2005
    ..Microsatellite analysis showed that the mutation was dominant and inherited from the mother who did not carry the mutation in blood, indicating germ-line mosaicism...
  7. ncbi request reprint Molecular and biochemical investigations in fumarase deficiency
    M Deschauer
    Neurologische Klinik der Universität Halle Wittenberg, Germany
    Mol Genet Metab 88:146-52. 2006
    ..This mutation affects the same codon as a C to T transition of nucleotide 823, resulting in a H275Y mutation that was found in two families with HLRCC...
  8. ncbi request reprint Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations
    M Deschauer
    Klinik und Poliklinik fur Neurologie, Martin Luther Universitat Halle Wittenberg, Ernst Grube Str 40, 06097 Halle Saale, Germany
    J Neurol 254:797-802. 2007
    ..McArdle disease, a common metabolic myopathy with autosomal recessive inheritance, is caused by a frequent R50X mutation and many rare mutations in the myophosphorylase gene...
  9. doi request reprint [Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings]
    M Deschauer
    Klinik und Poliklinik fur Neurologie, Martin Luther Universitat Halle Wittenberg, Ernst Grube Str 40, 06097 Halle Saale, Deutschland
    Nervenarzt 82:1596-603. 2011
    ..Mutations in the ANO5 gene seem to be a relatively common cause of muscular dystrophy in Germany. Cases with late onset or asymptomatic hyperCKemia can occur. Clinically, asymmetric manifestation is typical...
  10. ncbi request reprint Two novel mutations in the myophosphorylase gene in a patient with McArdle disease
    Marcus Deschauer
    Department of Neurology, Martin Luther Universitat Halle Wittenberg, Ernst Grube Str 40, 06097 Halle Saale, Germany
    Muscle Nerve 27:105-7. 2003
    ..These mutations are the first to be described in exon 2 and expand the genetic heterogeneity in patients with McArdle disease...
  11. ncbi request reprint A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency
    Marcus Deschauer
    Department of Neurology, Martin Luther University of Halle Wittenberg, Ernst Grube Str 40, 06097, Halle Saale, Germany
    Mol Genet Metab 79:124-8. 2003
    ..Sequencing of reverse transcription polymerase chain reaction (RT-PCR) products clearly demonstrated that this mutation causes the skipping of exon 3, thus establishing its pathogenic role...
  12. ncbi request reprint Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation
    M Deschauer
    Department of Neurology, Martin Luther Universitat Halle Wittenberg, Ernst Grube Str 40, D 06097 Halle, Germany
    Arch Neurol 58:1885-8. 2001
    ..To determine whether there are common symptoms within different phenotypes of the mitochondrial DNA A3243G mutation...
  13. ncbi request reprint [Familial mitochondrial chronic progressive external ophthalmoplegia. Five families with differing genetics]
    M Deschauer
    Klinik und Poliklinik fur Neurologie, Martin Luther Universitat Halle Wittenberg, Ernst Grube Str 40, 06097 Halle
    Nervenarzt 72:122-9. 2001
    ..The fifth family revealed autosomal dominant or maternal inheritance. In their index patient no alteration of mitochondrial DNA could be identified (including sequencing of hot spots for mitochondrial mutations)...
  14. ncbi request reprint Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects
    Marcus Deschauer
    Department of Neurology, Martin Luther Universitat Halle Wittenberg, Ernst Grube Strasse 40, 06097 Halle Saale, Germany
    Arch Neurol 62:37-41. 2005
    ..The phenotype of muscle CPT II deficiency might be influenced by the underlying mutation, and patients with a truncating mutation on 1 allele might be affected more severely...
  15. ncbi request reprint MELAS associated with mutations in the POLG1 gene
    M Deschauer
    Department of Neurology, Martin Luther Universitat Halle Wittenberg, Halle Saale, Germany
    Neurology 68:1741-2. 2007
  16. ncbi request reprint Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients
    T Wieser
    Klinik und Poliklinik fur Neurologie, Martin Luther Universitat, Halle Saale, Germany
    Neurology 60:1351-3. 2003
    ..Using modeling techniques, a structure could be identified anchoring the protein in the membrane. Only one of the five mutations (Y479F) is located within this region...
  17. ncbi request reprint [The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene]
    M Krasnianski
    Klinik und Poliklinik fur Neurologie, Martin Luther Universitat Halle Wittenberg, Halle
    Nervenarzt 75:770-5. 2004
    ..Thus, the phenotype of the C826A mutation in the FKRP gene is apparently not restricted to a clinical limb girdle syndrome...
  18. ncbi request reprint Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation
    T Muller
    Department of Neurology, Martin Luther University Halle Wittenberg, Ernst Grube Str 40, D 06097 Halle Saale, Germany
    Neuromuscul Disord 15:372-6. 2005
    ..Although cardiac involvement in patients with clinically typical LGMD2I was previously described, no patient with dilated cardiomyopathy as the only clinical manifestation of the FKRP mutation was reported so far...
  19. ncbi request reprint [Myofibrillary myopathy due to the ZASP mutation Ala147Thr : two cases with exclusively distal leg involvement]
    T Kraya
    Klinik und Poliklinik fur Neurologie, Martin Luther Universitat Halle Wittenberg, Ernst Grube Str 40, 06120, Halle Saale, Deutschland
    Nervenarzt 84:209-13. 2013
    ..The two patients with the ZASP mutation Ala147Thr described here showed only distal involvement of the legs without proximal weakness and involvement of the upper limb 6 and 19 years after onset of muscle weakness, respectively...
  20. ncbi request reprint Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients
    F Hanisch
    Klinik und Poliklinik fur Neurologie, Universität Halle Wittenberg, Germany
    Clin Neuropathol 26:157-63. 2007
    ..The c.550delA mutation in the CAPN3 gene was frequently identified in LGMD2A patients from Eastern Europe and is considered a Slavic founder mutation...
  21. ncbi request reprint A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease
    M Deschauer
    Department of Neurology, Martin Luther Universitat Halle Wittenberg, Ernst Grube Strasse 40, Halle Saale, 06097, Germany
    Mol Genet Metab 74:489-91. 2001
    ..This homozygous C-to-T transition (805C > T) results in the replacement of a arginine at amino acid position 269 with a stop codon (R269X). Our data further expand the genetic heterogeneity in patients with McArdle disease...
  22. ncbi request reprint Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy
    T Muller
    Klinik und Poliklinik fur Neurologie, Martin Luther Universitat, Halle Wittenberg, Ernst Grube Str 40, 06097, Halle Saale, Germany
    J Neurol 253:892-5. 2006
    ..It shows that other genotypes than classical (GCG)(7-13) are rather common in German OPMD patients. The data imply that there is no single founder effect in German OPMD patients...
  23. ncbi request reprint Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies
    Anna Krasnianski
    Department of Neurology, Martin Luther University Halle Wittenberg, Halle, Saale, Germany
    Brain 128:1870-6. 2005
    ..It is concluded that the histochemical, biochemical and molecular mitochondrial changes in muscle are not specific for ALS, but accompany other NAs as well...
  24. doi request reprint Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial
    S Strothotte
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilian University Munich, Munich, Germany
    J Neurol 257:91-7. 2010
    ..No serious adverse events occurred. None of the patients died or required de novo ventilation. Our clinical outcome data imply stabilization of neuromuscular deficits over 1 year with mild functional improvement...
  25. ncbi request reprint LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments
    P Reilich
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Munich, Germany
    Acta Myol 25:73-6. 2006
    ..Therefore, our findings further extend the morphological variability of muscular dystrophies due to FKRP mutations...
  26. doi request reprint Molecular diagnosis of German patients with late-onset glycogen storage disease type II
    P R Joshi
    Neurologische Universitatsklinik, Halle, Germany
    J Inherit Metab Dis 31:S261-5. 2008
    ..32-13T>G) were identified, of which the p.C103G (c.307T>G) and the c.2481+102_2646+31del mutations were present each in three unrelated patients. Sequencing revealed five novel mutations...
  27. ncbi request reprint Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes
    Juliane S Muller
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Brain 130:1497-506. 2007
    ....
  28. ncbi request reprint Successful treatment of MuSK antibody-positive myasthenia gravis with rituximab
    Berit Hain
    Department of Neurology, Martin Luther University of Halle Wittenberg, Ernst Grube Strasse 40, 06120 Halle Saale, Germany
    Muscle Nerve 33:575-80. 2006
    ..The patient continued to remain stable 12 months after initiation of therapy. This case report demonstrates that rituximab may be an effective and tolerable treatment in MuSK antibody-positive myasthenia gravis...
  29. ncbi request reprint Energetic depression caused by mitochondrial dysfunction
    Frank Norbert Gellerich
    Muskellabor der Neurologischen Klinik, Martin Luther Universitat Halle Wittenberg, Germany
    Eur Cytokine Netw 13:395-7. 2002
    ....
  30. ncbi request reprint Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) gene
    Tobias Müller
    Universitätsklinik und Poliklinik für Neurologie, Martin Luther Universitat Halle Wittenberg, Ernst Grube Str 40, 06097, Halle Saale, Germany
    Acta Neuropathol 110:426-30. 2005
    ..Mitochondrial myopathy and high level of mutated mtDNA might be a characteristic of the G7497A tRNA(Ser(UCN)) mutation...
  31. ncbi request reprint Lactate production upon short-term non-ischemic forearm exercise in mitochondrial disorders and other myopathies
    Frank Hanisch
    Klinik und Poliklinik fur Neurologie, Martin Luther Universitat, Halle Wittenberg, Ernst Grube Strasse 40, 06097 Halle Saale, Germany
    J Neurol 253:735-40. 2006
    ..Recently, the lactate increase normalized to the mechanical energy production in NIFET was suggested to have a intermediate sensitivity and satisfactory specifity for the screening of mitochondrial disorders...
  32. ncbi request reprint Lactate increase and oxygen desaturation in mitochondrial disorders--evaluation of two diagnostic screening protocols
    Frank Hanisch
    Klinik und Poliklinik fur Neurologie, Martin Luther Universitat, Halle Wittenberg, Ernst Grube Str 40, 06097, Halle Saale, Germany
    J Neurol 253:417-23. 2006
    ..Therefore, both parameters (lactate and oxygen saturation) can be used as screening tests in mitochondrial disorders. However, conflicting results regarding sensitivities and specifities of both tests have been reported...
  33. ncbi request reprint Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size
    Frank Norbert Gellerich
    Muskellabor der Neurologischen Klinik der Martin Luther Universität Halle Wittenb, Julius Kuhn Strasse 7, D 06079, Halle an der Saale, Germany
    Biochim Biophys Acta 1556:41-52. 2002
    ..The missing threshold at the level of mitochondrial function seems to be characteristic for large-scale deletions were tRNA and protein genes are deleted...
  34. ncbi request reprint Energetic depression caused by mitochondrial dysfunction
    Frank Norbert Gellerich
    Muskellabor der Neurologischen Klinik, Martin Luther Universitat Halle Wittenberg, Halle Saale, Germany
    Mol Cell Biochem 256:391-405. 2004
    ..This review regards classical bioenergetic mechanisms of mitochondrial impairment which contribute to energetic depression...
  35. ncbi request reprint Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance
    C Gaul
    Department of Neurology, Martin Luther University Halle Wittenberg, Ernst Grube Strasse 40, 06097, Halle Saale
    J Neurol 253:1317-22. 2006
    ....
  36. ncbi request reprint Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease
    Marcus Deschauer
    Department of Neurology, Martin Luther Universitat Halle Wittenberg, Halle Saale, Germany
    Arch Neurol 63:902-5. 2006
    ....
  37. ncbi request reprint ["Seronegative" myasthenia with antibodies against muscle-specific tyrosine-kinase]
    B Hain
    Klinik und Poliklinik fur Neurologie, Martin Luther Universitat Halle Wittenberg, Halle Saale, Deutschland
    Nervenarzt 75:362-7. 2004
    ..Finally, they illustrate the therapeutic difficulties with less response to pyridostigmine and immunosuppressive drugs...
  38. ncbi request reprint Increased metabolic muscle fatigue is caused by some but not all mitochondrial mutations
    Wilhelm J Schulte-Mattler
    Department of Neurology, University of Regensburg, Germany
    Arch Neurol 60:50-8. 2003
    ..Excessive muscle fatigue occurs in patients with a mitochondrial encephalomyopathy (MEM), but it is also a frequent problem in patients with other neuromuscular disorders (ONMD)...
  39. doi request reprint Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations
    Sebastian Paus
    Department of Neurology, University of Bonn, Bonn, Germany
    Mov Disord 23:1286-8. 2008
    ..So far, focal dystonia has not been reported in POLG1 mutation carriers, and should be considered when investigating patients with PEO and ptosis. Further studies on POLG1 mutations in focal dystonia are warranted...
  40. doi request reprint Orthognathic surgery in a case of infantile facioscapulohumeral muscular dystrophy with macroglossia
    Marcus Stephan Kriwalsky
    Martin Luther University Halle Wittenberg, Halle, Germany
    Oral Maxillofac Surg 12:195-8. 2008
    ..Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder with a shortened fragment of a D4Z4 repeat on chromosome 4q35. The infantile form of FSHD is relatively rare...
  41. pmc Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation
    Angela Pyle
    J Med Genet 44:69-74. 2007
    ..Previous studies have shown that the percentage of mutated mtDNA decreases in blood as patients get older, but the mechanisms behind this remain unclear. Objectives and..
  42. ncbi request reprint Reply to 'Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies--a comment'
    Anna Krasnianski
    Brain 129:E41. 2006
  43. ncbi request reprint A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
    Marcus Deschauer
    Department of Neurology, The Medical School, Framlington Place, University of Newcastle upon Tyne, NE2 4HH, Newcastle upon Tyne, UK
    Neuromuscul Disord 13:568-72. 2003
    ....
  44. ncbi request reprint Risk of developing a mitochondrial DNA deletion disorder
    Patrick F Chinnery
    Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Lancet 364:592-6. 2004
    ..Many patients with mtDNA disease harbour a single pathogenic mtDNA deletion, but the risk factors for new cases and disease recurrence are not known...