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Genomes and Genes | M DeschauerSummaryAffiliation: Martin Luther University Country: Germany Publications
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Publications
A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiencyMarcus 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...- C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosisM 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... - [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... - Molecular and biochemical investigations in fumarase deficiencyM 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... - Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutationsM 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... - A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegiaMarcus 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... - False-positive diagnosis of a single, large-scale mitochondrial DNA deletion by Southern blot analysis: the role of neutral polymorphismsMarcus Deschauer
Department of Neurology, Martin Luther University Halle Wittenberg, 06097, Halle Saale, Germany
Genet Test 8:395-9. 2004.... - Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspectsMarcus 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... - A splice junction mutation in muscle carnitine palmitoyltransferase II deficiencyMarcus 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... - [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... - Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutationM 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... - Two novel mutations in the myophosphorylase gene in a patient with McArdle diseaseMarcus 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... - [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..In contrast to sporadic cases with single mitochondrial deletions autosomal inheritance can be associated with multiple deletions of mitochondrial DNA. They are due to so far unknown nuclear mutations... - MELAS associated with mutations in the POLG1 geneM Deschauer
Department of Neurology, , Halle/Saale, Germany
Neurology 68:1741-2. 2007 - Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patientsT 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... - Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patientsF 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... - Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutationT 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... - Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophyT 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... - A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle diseaseM 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... - Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophiesAnna 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... - LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filamentsP 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... - Molecular diagnosis of German patients with late-onset glycogen storage disease type IIP R Joshi
Neurologische Universitatsklinik, Halle, Germany
J Inherit Metab Dis 31:S261-5. 2008..32-13T>G mutation identified 94% of the cases. This is important for quick and reliable diagnosis, especially in view of enzyme replacement. Among the rarer mutations, c.2481+102_2646+31del and p.C103G are rather frequent in Germany... - Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromesJuliane S Muller
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
Brain 130:1497-506. 2007.... - Lactate production upon short-term non-ischemic forearm exercise in mitochondrial disorders and other myopathiesFrank 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... - Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) geneTobias 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... - Lactate increase and oxygen desaturation in mitochondrial disorders--evaluation of two diagnostic screening protocolsFrank 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... - Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion sizeFrank 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... - Energetic depression caused by mitochondrial dysfunctionFrank 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... - Successful treatment of MuSK antibody-positive myasthenia gravis with rituximabBerit 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... - Energetic depression caused by mitochondrial dysfunctionFrank Norbert Gellerich
Muskellabor der Neurologischen Klinik, Martin Luther Universitat Halle Wittenberg, Germany
Eur Cytokine Netw 13:395-7. 2002.... - Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonanceC Gaul
Department of Neurology, Martin Luther University Halle Wittenberg, Ernst Grube Strasse 40, 06097, Halle Saale
J Neurol 253:1317-22. 2006.... - Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trialS 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... - Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular diseaseMarcus Deschauer
Department of Neurology, , Halle/Saale, Germany
Arch Neurol 63:902-5. 2006..CONCLUSION: This case serves to illustrate that primary defects of the mitochondrial genome should be considered even in older patients with late-onset, mild neuromuscular symptoms... - ["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... - Increased metabolic muscle fatigue is caused by some but not all mitochondrial mutationsWilhelm 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)... - Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutationsSebastian 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... - Orthognathic surgery in a case of infantile facioscapulohumeral muscular dystrophy with macroglossiaMarcus Stephan Kriwalsky
Martin Luther University Halle Wittenberg, Halle, Germany
Oral Maxillofac Surg 12:195-8. 2008..The patient was satisfied with the functional and esthetic results. Lip competence and occlusion were significantly improved. Thus, orthognatic surgery can enhance oral function, facial esthetics, and general quality of life... - Reply to 'Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies--a comment'Anna Krasnianski
Brain 129:E41. 2006 - A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegiaMarcus 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.... - Risk of developing a mitochondrial DNA deletion disorderPatrick 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... - Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutationAngela Pyle
J Med Genet 44:69-74. 2007..Depletion of mtDNA is not always due to mutation of a nuclear gene involved in mtDNA maintenance...