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1. Full Text Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
by Kornblum, Cornelia and Nicholls, Thomas J and Haack, Tobias B and Schöler, Susanne and Peeva, Viktoriya and Danhauser, Katharina and Hallmann, Kerstin and Zsurka, Gábor and Rorbach, Joanna and Iuso, Arcangela and Wieland, Thomas and Sciacco, Monica and Ronchi, Dario and Comi, Giacomo P and Moggio, Maurizio and Quinzii, Catarina M and Dimauro, Salvatore and Calvo, Sarah E and Mootha, Vamsi K and Klopstock, Thomas and Strom, Tim M and Meitinger, Thomas and Minczuk, Michal and Kunz, Wolfram S and Prokisch, Holger
Nature genetics, ISSN 1061-4036, 02/2013, Volume 45, Issue 2, pp. 214 - 219
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Mitochondrial Diseases - genetics | Amino Acid Sequence | Humans | Models, Molecular | Molecular Sequence Data | DNA Primers - genetics | Sequence Analysis, DNA | Mitochondrial Diseases - enzymology | DNA, Mitochondrial - genetics | Base Sequence | Cloning, Molecular | DNA Replication - genetics | Exodeoxyribonucleases - genetics | Gene Components | HeLa Cells | Codon, Nonsense - genetics | Gene mutations | Abnormalities | Physiological aspects | Mitochondrial DNA | Mitochondrial diseases | Research | Health aspects | Risk factors | Proteins | Enzymes | Mutation | Index Medicus
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2. Full Text Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
by Kopajtich, Robert and Nicholls, Thomas J and Rorbach, Joanna and Metodiev, Metodi D and Freisinger, Peter and Mandel, Hanna and Vanlander, Arnaud and Ghezzi, Daniele and Carrozzo, Rosalba and Taylor, Robert W and Marquard, Klaus and Murayama, Kei and Wieland, Thomas and Schwarzmayr, Thomas and Mayr, Johannes A and Pearce, Sarah F and Powell, Christopher A and Saada, Ann and Ohtake, Akira and Invernizzi, Federica and Lamantea, Eleonora and Sommerville, Ewen W and Pyle, Angela and Chinnery, Patrick F and Crushell, Ellen and Okazaki, Yasushi and Kohda, Masakazu and Kishita, Yoshihito and Tokuzawa, Yoshimi and Assouline, Zahra and Rio, Marlène and Feillet, François and Mousson de Camaret, Bénédict and Chretien, Dominique and Munnich, Arnold and Menten, Björn and Sante, Tom and Smet, Joél and Régal, Luc and Lorber, Abraham and Khoury, Asaad and Zeviani, Massimo and Strom, Tim M and Meitinger, Thomas and Bertini, Enrico S and Van Coster, Rudy and Klopstock, Thomas and Rötig, Agnès and Haack, Tobias B and Minczuk, Michal and Prokisch, Holger
American journal of human genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 708 - 720
Protein Biosynthesis | Acidosis, Lactic - genetics | Humans | Brain Diseases - genetics | Child, Preschool | Molecular Sequence Data | Infant | Male | GTP-Binding Proteins - genetics | Brain Diseases - physiopathology | RNA Interference | Fibroblasts | RNA, Transfer - genetics | Female | Child | Infant, Newborn | Amino Acid Sequence | Cell Line | Cardiomyopathy, Hypertrophic - genetics | RNA, Transfer - metabolism | Acidosis, Lactic - physiopathology | Sequence Alignment | Cardiomyopathy, Hypertrophic - physiopathology | Pedigree | Brain - pathology | Consanguinity | Protein Processing, Post-Translational | Mutation | GTP-Binding Proteins - metabolism | Cardiomyopathy, Hypertrophic | Gene mutations | Encephalopathy | Genetic research | Genetic aspects | Research | Genetic translation | Lactic acidosis | Musculoskeletal system | Phosphorylation | Mitochondrial DNA | Ribonucleic acid--RNA | Genes | Index Medicus | Life Sciences | Report
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3. Full Text Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation
by Hartig, Monika B and Iuso, Arcangela and Haack, Tobias and Kmiec, Tomasz and Jurkiewicz, Elzbieta and Heim, Katharina and Roeber, Sigrun and Tarabin, Victoria and Dusi, Sabrina and Krajewska-Walasek, Malgorzata and Jozwiak, Sergiusz and Hempel, Maja and Winkelmann, Juliane and Elstner, Matthias and Oexle, Konrad and Klopstock, Thomas and Mueller-Felber, Wolfgang and Gasser, Thomas and Trenkwalder, Claudia and Tiranti, Valeria and Kretzschmar, Hans and Schmitz, Gerd and Strom, Tim M and Meitinger, Thomas and Prokisch, Holger
American journal of human genetics, ISSN 0002-9297, 2011, Volume 89, Issue 4, pp. 543 - 550
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Amino Acid Sequence | Humans | Child, Preschool | Molecular Sequence Data | Male | Neurodegenerative Diseases - genetics | Mitochondria - metabolism | Mitochondrial Proteins - genetics | Mutation, Missense | Iron - metabolism | Case-Control Studies | Brain - metabolism | Sequence Homology, Amino Acid | Homozygote | Pedigree | Adolescent | Cloning, Molecular | Adult | Female | Heterozygote | Mutation | Child | Cohort Studies | Proteins | Brain | Iron | Neurodegeneration | Index Medicus | Basal ganglia | Deposits | Neurodegenerative diseases | Antibodies | Neuropathy | Gene deletion | Lewy bodies | Membrane proteins | optic atrophy | Mitochondria | Missense mutation | Tau protein | Autopsy | spheroids | Movement disorders | Geriatrics | Pantothenate kinase
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4. Full Text Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing
by Schludi, Martin H and May, Stephanie and Grässer, Friedrich A and Rentzsch, Kristin and Kremmer, Elisabeth and Küpper, Clemens and Klopstock, Thomas and Arzberger, Thomas and Edbauer, Dieter and Bavarian Brain Banking Alliance and German Consortium Frontotemporal and German Consortium for Frontotemporal Lobar Degeneration
Acta neuropathologica, ISSN 0001-6322, 10/2015, Volume 130, Issue 4, pp. 537 - 555
Pathology | Neurosciences | Neurotoxicity | DPR inclusions | Medicine & Public Health | FTLD | ALS | Repeat disorders | C9orf72 | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Frontotemporal Lobar Degeneration - pathology | Neurons - pathology | Cell Nucleolus - pathology | Spinal Cord - metabolism | Neuroglia - pathology | Humans | Middle Aged | Brain - metabolism | DNA Repeat Expansion | Motor Neuron Disease - metabolism | Frontotemporal Lobar Degeneration - metabolism | Motor Neuron Disease - genetics | Spinal Cord - pathology | Cell Nucleolus - metabolism | Adult | C9orf72 Protein | Neurons - metabolism | Inclusion Bodies - metabolism | Motor Neuron Disease - complications | Gene Silencing | Rats | Frontotemporal Lobar Degeneration - complications | Motor Neuron Disease - pathology | Proteins - genetics | Animals | Proteins - metabolism | Brain - pathology | Inclusion Bodies - pathology | Neuroglia - metabolism | Aged | Frontotemporal Lobar Degeneration - genetics | Adaptor Proteins, Signal Transducing - metabolism | Cohort Studies | Proteins | Amyotrophic lateral sclerosis | Genetic aspects | Genetic transcription | Comparative analysis | Index Medicus | Original Paper
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5. Full Text Ist Omaveloxolone wirksam bei mitochondrialer Myopathie?
by Klopstock, Thomas
Fortschritte der Neurologie, Psychiatrie, ISSN 0720-4299, 10/2020, Volume 88, Issue 10, pp. 638 - 639
Fokussiert
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6. Full Text Mutations in GTPBP3 Cause a Mitochondria! Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
by Kopajtich, Robert and Nicholls, Thomas J and Rorbach, Joanna and Metodiev, Metodi D and Freisinger, Peter and Mandel, Hanna and Vanlander, Arnaud and Ghezzi, Daniele and Carrozzo, Rosalba and Taylor, Robert W and Marquard, Klaus and Murayama, Kei and Wieland, Thomas and Schwarzmayr, Thomas and Mayr, Johannes A and Pearce, Sarah F and Powell, Christopher A and Saada, Ann and Ohtake, Akira and Invemizzi, Federica and Lamantea, Eleonora and Sommerville, Ewen W and Pyle, Angela and Chinnery, Patrick F and Crushell, Ellen and Okazaki, Yasushi and Kohda, Masakazu and Kishita, Yoshihito and Tokuzawa, Yoshimi and Assouline, Zahra and Rio, Marlene and Feillet, Francois and de Camaret, Benedict Mousson and Chretien, Dominique and Munnich, Arnold and Menten, Bjoern and Sante, Tom and Smet, Joel and Regal, Luc and Lorber, Abraham and Khoury, Asaad and Zeviani, Massimo and Strom, Tim M and Meitinger, Thomas and Bertini, Enrico S and Van Coster, Rudy and Klopstock, Thomas and Roetig, Agnes and Haack, Tobias B and Minczuk, Michal and Prokisch, Holger
American journal of human genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 708 - 720
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology
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7. Full Text Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
by Schüle, Rebecca and Wiethoff, Sarah and Martus, Peter and Karle, Kathrin N and Otto, Susanne and Klebe, Stephan and Klimpe, Sven and Gallenmüller, Constanze and Kurzwelly, Delia and Henkel, Dorothea and Rimmele, Florian and Stolze, Henning and Kohl, Zacharias and Kassubek, Jan and Klockgether, Thomas and Vielhaber, Stefan and Kamm, Christoph and Klopstock, Thomas and Bauer, Peter and Züchner, Stephan and Liepelt‐Scarfone, Inga and Schöls, Ludger
Annals of neurology, ISSN 0364-5134, 04/2016, Volume 79, Issue 4, pp. 646 - 658
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Severity of Illness Index | Spastic Paraplegia, Hereditary - genetics | Cross-Sectional Studies | Humans | Middle Aged | Male | Germany - epidemiology | Pedigree | Adult | Female | Aged | Spastic Paraplegia, Hereditary - epidemiology | Spastic Paraplegia, Hereditary - physiopathology | Studies | Paralysis | Index Medicus
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8. Full Text Creatine for neuroprotection in neurodegenerative disease: end of story?
by Bender, Andreas and Klopstock, Thomas
Amino acids, ISSN 0939-4451, 8/2016, Volume 48, Issue 8, pp. 1929 - 1940
Life Sciences | Biochemistry, general | Neuroprotection | Analytical Chemistry | Mitochondrial dysfunction | Life Sciences, general | Biochemical Engineering | Proteomics | Neurobiology | Neurodegenerative disease | Creatine | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Dose-Response Relationship, Drug | Neuroprotective Agents - therapeutic use | Animals | Neurodegenerative Diseases - physiopathology | Humans | Creatine - therapeutic use | Neurodegenerative Diseases - metabolism | Neurodegenerative Diseases - drug therapy | Disease Models, Animal | Randomized Controlled Trials as Topic | Nervous system diseases | Analysis | Index Medicus
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9. Full Text Mitochondriale Erkrankungen: Was Sie für die Praxis wissen müssen
by Klopstock, Thomas
InFo Neurologie + Psychiatrie, ISSN 1437-062X, 02/2021, Volume 23, Issue 2, pp. 28 - 37
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10. Full Text Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study
by Reetz, Kathrin, MD and Dogan, Imis, PhD and Hilgers, Ralf-Dieter, Prof and Giunti, Paola, MD and Mariotti, Caterina, MD and Durr, Alexandra, MD and Boesch, Sylvia, MD and Klopstock, Thomas, MD and de Rivera, Francisco Javier Rodriguez, MD and Schöls, Ludger, Prof and Klockgether, Thomas, Prof and Bürk, Katrin, MD and Rai, Myriam, PhD and Pandolfo, Massimo, Prof and Schulz, Jörg B, Prof and EFACTS Study Group and EFACTS Study Grp
Lancet neurology, ISSN 1474-4422, 2016, Volume 15, Issue 13, pp. 1346 - 1354
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Severity of Illness Index | Prognosis | Outcome Assessment (Health Care) | Europe | Humans | Middle Aged | Friedreich Ataxia - diagnosis | Male | Disease Progression | Friedreich Ataxia - genetics | Activities of Daily Living | Friedreich Ataxia - physiopathology | Age of Onset | Adult | Female | Registries | Cohort Studies | Ataxia | Development and progression | Nervous system diseases | Neurosciences | Analysis | Studies | Consortia | Activities of daily living | Cardiomyopathy | Clinical trials | Inventory | Quality of life | Index Medicus
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11. Full Text TDP‐43 loss of function inhibits endosomal trafficking and alters trophic signaling in neurons
by Schwenk, Benjamin M and Hartmann, Hannelore and Serdaroglu, Alperen and Schludi, Martin H and Hornburg, Daniel and Meissner, Felix and Orozco, Denise and Colombo, Alessio and Tahirovic, Sabina and Michaelsen, Meike and Schreiber, Franziska and Haupt, Simone and Peitz, Michael and Brüstle, Oliver and Küpper, Clemens and Klopstock, Thomas and Otto, Markus and Ludolph, Albert C and Arzberger, Thomas and Kuhn, Peer‐Hendrik and Edbauer, Dieter
The EMBO journal, ISSN 0261-4189, 11/2016, Volume 35, Issue 21, pp. 2350 - 2370
ALS | recycling endosomes | TDP‐43 | ErbB4 | FTLD | TDP-43 | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Receptor, ErbB-4 - metabolism | ATPases Associated with Diverse Cellular Activities | Signal Transduction | Amyotrophic Lateral Sclerosis - genetics | Humans | Cells, Cultured | Endosomal Sorting Complexes Required for Transport - metabolism | Receptor, Fibroblast Growth Factor, Type 1 - metabolism | Adenosine Triphosphatases - metabolism | Endosomal Sorting Complexes Required for Transport - genetics | Rats | DNA-Binding Proteins - genetics | Hippocampus - cytology | Endosomes - metabolism | Gene Knockdown Techniques | Protein Transport | DNA-Binding Proteins - metabolism | Animals | Frontotemporal Lobar Degeneration - metabolism | Amyotrophic Lateral Sclerosis - metabolism | Adenosine Triphosphatases - genetics | Neurons - metabolism | Receptor, ErbB-4 - genetics | Frontotemporal Lobar Degeneration - genetics | Amyotrophic lateral sclerosis | Motility | Neurodegeneration | Neurons | Index Medicus | Neuroscience | Membrane & Intracellular Transport
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