Publications by authors named "Marcus Deschauer"

82 Publications

Bilateral thoracic disc herniation with abdominal wall paresis: a case report.

Acta Neurochir (Wien) 2020 09 4;162(9):2055-2059. Epub 2020 Jun 4.

School of Medicine, Klinikum rechts der Isar, Neurosurgical Department, Technical University of Munich, Munich, Germany.

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September 2020

[CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia].

Nervenarzt 2020 Jun;91(6):537-540

Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Ismaninger Str. 22, 81675, München, Deutschland.

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June 2020

Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNA) gene variant.

Neuromuscul Disord 2020 04 5;30(4):346-350. Epub 2020 Mar 5.

Department of Neurology, Technical University Munich, School of Medicine, Munich, Germany.

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April 2020

Radiation dose reduction for CT-guided intrathecal nusinersen administration in adult patients with spinal muscular atrophy.

Sci Rep 2020 02 25;10(1):3406. Epub 2020 Feb 25.

Department of Diagnostic and Interventional Neuroradiology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

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February 2020

McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients.

Biomedicines 2020 Feb 15;8(2). Epub 2020 Feb 15.

Department of Neurology, Martin-Luther-University Halle-Wittenberg, 06120 Halle (Saale), Germany.

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February 2020

Intrathecal nusinersen administration in adult spinal muscular atrophy patients with complex spinal anatomy.

Ther Adv Neurol Disord 2020 20;13:1756286419887616. Epub 2020 Jan 20.

Department of Diagnostic and Interventional Neuroradiology, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.

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January 2020

Patient-Reported Prevalence of Non-motor Symptoms Is Low in Adult Patients Suffering From 5q Spinal Muscular Atrophy.

Front Neurol 2019 1;10:1098. Epub 2019 Nov 1.

Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, Germany.

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November 2019

Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey.

J Clin Neurosci 2019 Jan 16;59:32-36. Epub 2018 Nov 16.

Department of Neurology, Martin-Luther-University Halle-Wittenberg, Germany.

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January 2019

Acetylcholine Receptor Antibody Titers and Clinical Course after Influenza Vaccination in Patients with Myasthenia Gravis: A Double-Blind Randomized Controlled Trial (ProPATIent-Trial).

EBioMedicine 2018 Feb 10;28:143-150. Epub 2018 Jan 10.

Klinik für Neurologie, Philipps-Universität und Universitätsklinikum Marburg, Baldingerstr. 1, Marburg 35043, Germany; Klinik für Neurologie, Klinikum Christophsbad, Faurndauer Str. 6, Göppingen 73035, Germany.

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February 2018

FGF-21 as a Potential Biomarker for Mitochondrial Diseases.

Curr Med Chem 2018 ;25(18):2070-2081

Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle/Saale, Germany.

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August 2018

Cognitive impairment, clinical severity and MRI changes in MELAS syndrome.

Mitochondrion 2019 01 29;44:53-57. Epub 2017 Dec 29.

Department of Psychiatry, Psychotherapy and Psychosomatics, University of Halle (Saale), Germany.

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January 2019

Prevalence of Headache in Patients With Mitochondrial Disease: A Cross-Sectional Study.

Headache 2018 Jan 15;58(1):45-52. Epub 2017 Nov 15.

Headache and Migraine Clinic, Königstein, Germany.

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January 2018

B1-insensitive T2 mapping of healthy thigh muscles using a T2-prepared 3D TSE sequence.

PLoS One 2017 14;12(2):e0171337. Epub 2017 Feb 14.

Institut für Diagnostische und Interventionelle Radiologie, Technische Universität München, Munich, Germany.

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August 2017

Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions.

Neurol Genet 2016 Dec 19;2(6):e113. Epub 2016 Oct 19.

Form the Department of Neurology (D.L., M.E.K., C.C., S.Z.), Institute of Medical Epidemiology, Biometrics and Informatics (A.W.), University of Halle-Wittenberg, Halle/Saale, Germany; Wellcome Trust Centre for Mitochondrial Research (C.L.A., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, UK; and Department of Neurology (M.D.), Technical University Munich, Germany.

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December 2016

Status Epilepticus After Subthalamic Deep Brain Stimulation Surgery in a Patient with Parkinson's Disease.

World Neurosurg 2016 Dec 24;96:614.e1-614.e6. Epub 2016 Aug 24.

Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

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December 2016

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

Neurology 2016 Jul 11;87(3):295-8. Epub 2016 May 11.

From Newborn Screening and Metabolic Diagnostics (Z.L., P.N.C.), University Medical Center Hamburg-Eppendorf, Hamburg; Friedrich-Baur Institute, Department of Neurology (S.W., B.S.-W., M.C.W., P.R., T.K., B.S.), and Department of Neuropediatrics, Dr. Von Haunersche Kinderklinik (W.M.-F.), Ludwig Maximilian University of Munich, Germany; The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.A.W.), Oswestry; Institute of Genetic Medicine (T.E., M.G., V.S.), Newcastle University; Salford Royal NHS Foundation Trust (M.R.), Salford; UCL Institute of Neurology and National Hospital (R.Q.), Queen Square, London; Department of Neurology (D.H.-J.), Oxford University Hospital, UK; and Department of Neurology (S.Z., M.D.), Halle University, Germany.

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July 2016