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Journal of Cardiovascular Magnetic Resonance, ISSN 1097-6647, 12/2016, Volume 18, Issue 1, pp. 91 - 91
Background: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal a-1,4-glucosidase leading to accumulation of glycogen in... 
Pompe disease | Cardiovascular magnetic resonance | Feature tracking | Cardiomyopathy | Late gadolinium enhancement | Cardiac disease | Mapping | NONISCHEMIC CARDIOMYOPATHIES | DIAGNOSIS | CARDIAC & CARDIOVASCULAR SYSTEMS | ABNORMALITIES | ADULTS | CHILDREN | HEART-DISEASE | EXTRACELLULAR VOLUME | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Predictive Value of Tests | Cardiomyopathies - diagnostic imaging | Prognosis | Prospective Studies | Ventricular Function, Left | Humans | Middle Aged | Male | Asymptomatic Diseases | Cardiomyopathies - etiology | Case-Control Studies | Glycogen Storage Disease Type II - enzymology | Young Adult | Glycogen Storage Disease Type II - complications | Ventricular Remodeling | Contrast Media - administration & dosage | Adult | Female | Gadolinium DTPA - administration & dosage | Glycogen Storage Disease Type II - genetics | Heart Diseases - physiopathology | Hypertrophy, Left Ventricular - etiology | Risk Factors | Acute Coronary Syndrome - diagnostic imaging | Ventricular Dysfunction, Left - etiology | Myocardium - pathology | Magnetic Resonance Imaging, Cine | Ventricular Dysfunction, Left - diagnostic imaging | Stroke Volume | Heart Diseases - etiology | Acute Coronary Syndrome - etiology | Fibrosis | Aged | Glycogen Storage Disease Type II - diagnosis | Heart Diseases - diagnostic imaging | Heart Diseases - pathology | Ventricular Function, Right | Hypertrophy, Left Ventricular - diagnostic imaging | Care and treatment | Usage | Glycogenosis | Magnetic resonance imaging | Cardiac patients | Index Medicus
Journal Article
Journal Article
Neurophysiologie-Labor, ISSN 1439-4847, 06/2018, Volume 40, Issue 2, pp. 111 - 119
Hereditary neuropathies (synonymous Charcot-Marie-Tooth-disease, CMT) are with an incidence of 1:2500 in the field of clinical neurology, the most common... 
genetic | HMSN | neuropathies | CMT
Journal Article
Neurophysiologie-Labor, ISSN 1439-4847, 06/2018, Volume 40, Issue 2, pp. 111 - 119
Die häufigste neurogenetische Erkrankung in der klinischen Neurologie ist die hereditäre sensible und motorische Neuropathie (HMSN – synonym... 
Genetik | genetic | Neuropathie | neuropathies | HMSN | CMT
Journal Article
Journal of Cardiovascular Magnetic Resonance, ISSN 1097-6647, 05/2015, Volume 17, Issue 1, pp. 40 - 40
Background: Mitochondrial myopathies (MM) are a heterogeneous group of inherited conditions resulting from a primary defect in the mitochondrial respiratory... 
CPEO | Mitochondrial myopathy | MELAS | Cardiovascular magnetic resonance | Cardiomyopathy | DIAGNOSIS | CARDIAC & CARDIOVASCULAR SYSTEMS | MANAGEMENT | EUROPEAN-SOCIETY | LEFT-VENTRICULAR HYPERTROPHY | HEART | TASK-FORCE | DISEASE | MUTATION | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | FRIEDREICH ATAXIA | Kearns-Sayre Syndrome - pathology | Predictive Value of Tests | Ophthalmoplegia, Chronic Progressive External - pathology | Prevalence | Prospective Studies | Ventricular Function, Left | Humans | Middle Aged | Male | Ophthalmoplegia, Chronic Progressive External - genetics | Case-Control Studies | Mitochondrial Myopathies - epidemiology | MELAS Syndrome - genetics | Cardiomyopathies - genetics | Cardiomyopathies - physiopathology | Ventricular Remodeling | Hypertrophy, Left Ventricular - genetics | MERRF Syndrome - genetics | Hypertrophy, Left Ventricular - pathology | Adult | Female | Genetic Predisposition to Disease | MERRF Syndrome - pathology | Kearns-Sayre Syndrome - genetics | Cardiomyopathies - pathology | Myocardium - pathology | Mitochondrial Myopathies - physiopathology | Mitochondrial Myopathies - pathology | Germany - epidemiology | Stroke Volume | Magnetic Resonance Imaging | Cardiomyopathies - epidemiology | Mitochondrial Myopathies - genetics | Phenotype | MELAS Syndrome - pathology | Aged | Hypertrophy, Left Ventricular - physiopathology | Care and treatment | Arrhythmia | Cardiac patients | Epilepsy | Electrocardiogram | Physiological aspects | Electrocardiography | Genetic aspects | Index Medicus
Journal Article
Das Neurophysiologie-Labor, ISSN 1439-4847, 06/2018, Volume 40, Issue 2, p. 111
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1016/j.neulab.2018.03.002 
Journal Article
Journal of Neurochemistry, ISSN 0022-3042, 12/2017, Volume 143, Issue 5, pp. 507 - 522
Journal Article
NeuroMolecular Medicine, ISSN 1535-1084, 6/2019, Volume 21, Issue 2, pp. 182 - 191
Hereditary sensory and autonomic neuropathy type 1 (HSAN1) is a rare, autosomal dominantly inherited, slowly progressive and length-dependent axonal peripheral... 
Neurology | Neurosciences | Biomedicine | HSAN1 | Internal Medicine | 1-deoxysphingolipids | Neuropathy | Serine-palmitoyltransferase | Mass spectrometry | SERINE PALMITOYLTRANSFERASE | PHENOTYPE | MUTATIONS | NEUROSCIENCES | SUBUNIT | FAMILY | Neurotoxicity | Phenotypes | Autonomic nervous system | Serine | Substrate specificity | Sphingolipids | Plasma levels | Mutation | Palmitoyltransferase | Peripheral neuropathy
Journal Article
Journal Article
by Ludolph, Albert C and Schuster, Joachim and Dorst, Johannes and Dupuis, Luc and Dreyhaupt, Jens and Weishaupt, Jochen H and Kassubek, Jan and Weiland, Ulrike and Petri, Susanne and Meyer, Thomas and Meyer, Robert and Grosskreutz, Julian and Schrank, Berthold and Schrank, Bertold and Boentert, Matthias and Emmer, Alexander and Hermann, Andreas and Zeller, Daniel and Prudlo, Johannes and Winkler, Andrea S and Grehl, Torsten and Heneka, Michael T and Wollebæk Johannesen, Siw and Göricke, Bettina and Funke, Andreas and Kettemann, Dagmar and Gruhn, Kai and Schwenkreis, Peter and Stude, Philipp and Kurzwelly, Delia and Storch, Alexander and Richter, Nicole and Frank, Tobias and Hein, Katharina and Hanisch, Frank and Hanke, Dagmar and Kraya, Torsten and Posa, Andreas and Romanakova, Martina and Schilling, Susanne and Abdulla, Susanne and Böselt, Sebastian and Janssen, Claas and Lange, Imken and Kobeleva, Xenia and Körner, Sonja and Kollewe, Katja and Osmanovic, Alma and Scharn, Nicole and Rath, Klaus J and Dahms, Christiane and Gunkel, Anne and Heiling, Bianka and Ringer, Thomas and Smesny, Uta and Baumeister, Sarah and Berthele, Achim and Bublitz, Sarah and Akova-Öztürk, Esra and Stubbe-Dräger, Bianca and Rahmann, Alexandra and Young, Peter and Young, Charlotte and Baldaranov, Dobri and Bogdahn, Ulrich and Khomenko, Andrei and Schulte-Mattler, Wilhelm and Stadler, Christina and Husung, Susanne and Tesar, Simone and Dargah-Zaden, Nigar and Last, Christina and Langer, Eva and Lauenstein, Ann-Sophie and Lensch, Eckard and Mc Farlane, Carolyn and Fischer-Brasse, Heike and Orbán, Klara and Schürger, Sonja and Klebe, Stephan and Kraft, Peter and Musacchio, Thomas and Seiler, Carola and RAS-ALS Study Grp and RAS-ALS Study Group
The Lancet Neurology, ISSN 1474-4422, 08/2018, Volume 17, Issue 8, pp. 681 - 688
Journal Article
BMC Neurology, ISSN 1471-2377, 05/2012, Volume 12, Issue 1, pp. 23 - 23
Journal Article
Sleep, ISSN 0161-8105, 02/2019, Volume 42, Issue 2
An autoimmune-mediated process in the pathophysiology of narcolepsy type 1 (NT1) is highly suspicious, if this pathomechanism is transferable to other types of... 
ANTIBODIES | T-cell-mediated autoimmunity | narcolepsy | NARCOLEPSY TYPE-1 | CATAPLEXY | INDUCTION | NEUROSCIENCES | CLINICAL NEUROLOGY | PATHOPHYSIOLOGY | idiopathic hypersomnia | NEURONS | HLA-DR(+)CD8(+) T-cells | orexin/hypocretin | HLA-DR(+)CD4(+) T-cells | EXPRESSION | EPIDEMIOLOGY
Journal Article
Der Nervenarzt, ISSN 0028-2804, 04/2019, Volume 90, Issue 4, p. 343
Die spinale Muskelatrophie (SMA) ist eine progressive, autosomal-rezessive neurodegenerative Erkrankung mit einer Inzidenz von 1:10.000 Lebendgeburten. Mit... 
Medical research | Care and treatment | RNA | Medicine, Experimental | Gene expression | Spinal muscular atrophy
Journal Article