المؤلفون: Maaike de Vries, David C. Samuels, Bianca J.C. van den Bosch, Douglass M. Turnbull, Angela Abicht, Elke Holinski-Feder, Ireneus F. M. de Coo, Gavin Hudson, Rita Horvath, Hanns Lochmüller, Bart W. Smits, Anne Lombès, Laurence A. Bindoff, Robert W. Taylor, Michio Hirano, Vivienne C.M. Neeve, Bianca-Cortina Keiling, S. DiMauro, Jan A.M. Smeitink, Hubert J.M. Smeets, Carsten Saft, Thomas Klopstock, G. Gorman, Gert Van Goethem, Birgit Czermin, Claude Jardel, Patrick F. Chinnery

المساهمون: Chinnery, Patrick [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository, Erasmus MC other, Neurology, MUMC+: DA KG Lab Centraal Lab (9), Psychiatrie & Neuropsychologie, Genetica & Celbiologie, RS: CARIM School for Cardiovascular Diseases, RS: GROW - School for Oncology and Reproduction

المصدر: Brain, 135, 3614-26
Brain, 135, Pt 12, pp. 3614-26
Brain, 135, 3614-3626. Oxford University Press
Brain
Brain, 135(12), 3614-3626. Oxford University Press

مصطلحات موضوعية: Male, Threonine, Ophthalmoplegia, Chronic Progressive External, DNA Mutational Analysis, Statistics as Topic, DNA-Directed DNA Polymerase, neuromuscular disorders, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Missense mutation, molecular biology, genetics, Age of Onset, Child, Genetics, 0303 health sciences, Mutation, mitochondrial diseases, Alanine, Homozygote, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Middle Aged, Phenotype, 3. Good health, DNA Polymerase gamma, Europe, Female, Adult, Mitochondrial DNA, Adolescent, phenotype, Biology, Statistics, Nonparametric, 03 medical and health sciences, Young Adult, SDG 3 - Good Health and Well-being, medicine, Humans, Genetic Predisposition to Disease, Epigenetics, Allele, Muscle, Skeletal, Gene, DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Family Health, Haplotype, Diffuse Cerebral Sclerosis of Schilder, Original Articles, Human Reproduction [NCEBP 12], Neurology (clinical), Human medicine, 030217 neurology & neurosurgery

وصف الملف: application/pdf; pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e86a14fb203538bd4f9cdcdfbb7632e
https://doi.org/10.1093/brain/aws298

المؤلفون: Joachim Weis, Norbert Wagner, Sabine Rudnik-Schöneborn, Martin Häusler, Kay Nolte, Andreas van Baalen, Dagmar Honnef, Birgit Czermin, Klaus Ritter, Sonja Trepels-Kottek, Christian G. Bien

المصدر: Neuropathology. 33:59-67

مصطلحات موضوعية: Muscle tissue, medicine.medical_specialty, Alpers' disease, Pathology, Muscle biopsy, medicine.diagnostic_test, Brain biopsy, Epilepsia partialis continua, General Medicine, Biology, medicine.disease, Mitochondrial Size, Pathology and Forensic Medicine, medicine.anatomical_structure, Mitochondrial myopathy, medicine, Histopathology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6e3c4b60f0c670dcf10d0074d02fb122
https://doi.org/10.1111/j.1440-1789.2012.01317.x

المؤلفون: Benedikt Schoser, Elke Holinski-Feder, Johannes A. Mayr, Franz A. Zimmermann, Hans-Christian Schneider, Rita Horvath, Wolfgang Sperl, Birgit Czermin, Peter Freisinger

المصدر: Neuromuscular Disorders. 21:803-808

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Cardiomyopathy, Respiratory chain, Exercise intolerance, Biology, Mitochondrial Proteins, Muscular Diseases, Internal medicine, medicine, Humans, Phosphate Transport Proteins, Child, Muscle, Skeletal, Myopathy, Genetics (clinical), Family Health, Genetics, Muscle biopsy, medicine.diagnostic_test, Muscular hypotonia, Infant, Skeletal muscle, medicine.disease, Introns, Mitochondria, Alternative Splicing, medicine.anatomical_structure, Endocrinology, Neurology, Lactic acidosis, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, Cardiomyopathies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bd58239512537baea47b212048cf039
https://doi.org/10.1016/j.nmd.2011.06.005

المؤلفون: Hanns Lochmüller, Bertold Schrank, Rolf Stucka, Elke Holinski-Feder, Angela Abicht, Jürgen Seeger, Rita Horvath, Ulrich Lörcher, Solvig Müller-Ziermann, Angela Pyle, Birgit Czermin

المصدر: Neuromuscular Disorders. 20:720-724

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Respiratory Chain Deficiency, Cytochrome-c Oxidase Deficiency, Basal Ganglia, Electron Transport Complex IV, Sex Factors, Neuroimaging, Basal ganglia, Humans, Medicine, Cytochrome c oxidase, In patient, Child, Muscle, Skeletal, Gene, Genetics (clinical), Dystonia, biology, business.industry, Microfilament Proteins, medicine.disease, Magnetic Resonance Imaging, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), Leigh Disease, Cognition Disorders, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da54c9114ff4f6bc4ba73660a0aaafae
https://doi.org/10.1016/j.nmd.2010.06.017

المؤلفون: Robert McFarland, Paola Goffrini, Helen A. L. Tuppen, Birgit Czermin, Langping He, Robert W. Taylor, Rita Horvath, Francesca Meloni, Emma L. Blakely, Iliana Ferrero, Janev Fehmi, Douglass M. Turnbull

المصدر: Molecular Genetics and Metabolism. 100:345-348

مصطلحات موضوعية: Time Factors, BCS1L, Endocrinology, Diabetes and Metabolism, Mitochondrial disease, DNA Mutational Analysis, Molecular Sequence Data, Saccharomyces cerevisiae, Biology, medicine.disease_cause, Bioinformatics, Biochemistry, Electron Transport Complex III, Young Adult, Endocrinology, Atrophy, Pregnancy, Genetics, medicine, Humans, Amino Acid Sequence, Child, Muscle, Skeletal, Floppy Infant, Molecular Biology, Mutation, Muscle biopsy, Base Sequence, medicine.diagnostic_test, Genetic Complementation Test, Infant, Newborn, Infant, Muscle weakness, medicine.disease, Survival Analysis, Mitochondria, Complementation, ATPases Associated with Diverse Cellular Activities, Female, medicine.symptom, Subcellular Fractions

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a37ce144d61c64a795bcd044c3e0a931
https://doi.org/10.1016/j.ymgme.2010.04.010

المؤلفون: Stefanie Bulst, Joanna Stewart, Patrick F. Chinnery, Gavin Hudson, Birgit Czermin, Hanns Lochmüller, Maggie C. Walter, Solvig Müller-Ziermann, Angela Abicht, Peter Schneiderat, Elke Holinski-Feder, Thomas Klopstock, Rita Horvath

المصدر: Journal of Neurology. 257:1517-1523

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Molecular Sequence Data, Respiratory chain, DNA-Directed DNA Polymerase, Exercise intolerance, Biology, Exon, Ptosis, Mitochondrial myopathy, Germany, medicine, Blepharoptosis, Humans, Genetic Predisposition to Disease, Myopathy, Cells, Cultured, Southern blot, Base Sequence, Genetic Carrier Screening, Mitochondrial Myopathies, Muscle weakness, Middle Aged, medicine.disease, Pedigree, Mutagenesis, Insertional, Neurology, Female, Neurology (clinical), medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea6d0b8d6f37a43a6baa31391539b881
https://doi.org/10.1007/s00415-010-5565-9

المؤلفون: J. C. von Kleist-Retzow, Mike P. Wattjes, Birgit Czermin, Jens Reimann, Cornelia Kornblum, K. Jurkat-Rott, Götz Lutterbey

المساهمون: Radiology and nuclear medicine, Other Research

المصدر: Kornblum, C, Lutterbey, G G, Czermin, B, Reimann, J, von Kleist-Retzow, J C, Jurkat-Rott, K & Wattjes, M P 2010, ' Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita ', Acta Neurologica Scandinavica, vol. 121, no. 2, pp. 131-135 . https://doi.org/10.1111/j.1600-0404.2009.01228.x
Acta Neurologica Scandinavica, 121(2), 131-135. Wiley-Blackwell

مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Myotonia Congenita, Genes, Recessive, Myotonic dystrophy, Muscle hypertrophy, Muscular Diseases, Chloride Channels, Internal medicine, medicine, Edema, Humans, Muscular dystrophy, Muscle, Skeletal, Connective tissue replacement, CLCN1, Leg, biology, Myotonia congenita, business.industry, Skeletal muscle, General Medicine, Hypertrophy, Muscle stiffness, medicine.disease, Magnetic Resonance Imaging, Pedigree, Endocrinology, medicine.anatomical_structure, Neurology, Adipose Tissue, Connective Tissue, Mutation, biology.protein, Female, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::466980056f2c7f5bcbc520d08b9c231e
https://hdl.handle.net/1871/45873

المؤلفون: Axel Imhof, Birgit Czermin

المصدر: Genetica. 117:159-164

مصطلحات موضوعية: Genetics, Heterochromatin, EZH2, Plant Science, General Medicine, Biology, Histone H1, Insect Science, Histone methyltransferase, Histone H2A, Histone methylation, Histone code, Animal Science and Zoology, Heterochromatin protein 1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cbe283619c9ba4748847f2226668c435
https://doi.org/10.1023/a:1022927725945

المؤلفون: Vincenzo Pirrotta, Raffaella Melfi, Donna McCabe, Axel Imhof, Volker Seitz, Birgit Czermin

المساهمون: Czermin B., Melfi R., McCabe D., Seitz V., Imhof A., Pirrotta V.

المصدر: Cell. 111(2):185-196

مصطلحات موضوعية: Histone methyltransferase activity, government.form_of_government, Settore BIO/11 - Biologia Molecolare, macromolecular substances, Trithorax-group proteins, General Biochemistry, Genetics and Molecular Biology, Chromosomes, Histone H3, SUZ12, Animals, Drosophila Proteins, PRC1 complex, Protein Methyltransferases, Methyltransferase, Polycomb Repressive Complex 1, biology, Biochemistry, Genetics and Molecular Biology(all), Lysine, fungi, Polycomb Repressive Complex 2, Nuclear Proteins, Histone-Lysine N-Methyltransferase, Methyltransferases, Molecular biology, Polycomb, Repressor Proteins, Mutation, government, biology.protein, Histone Methyltransferases, Drosophila, Homeotic gene, PRC2, Centric heterochromatin, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e23bd91ef52ac4100b3d7612f274c4bd

المؤلفون: Grainne S. Gorman, Robert McFarland, Emma L. Blakely, Angela Pyle, Grace Vassallo, Helen Griffin, Elke Holinski-Feder, Angela Abicht, Haluk Topaloglu, Ivo Barić, Robert W. Taylor, Andrew Best, John W. Yarham, Patrick F. Chinnery, Stephanie Kleinle, Mauro Santibanez-Koref, Rita Horvath, Ulrike Schara, Beril Talim, Charlotte L. Alston, Janbernd Kirschner, Tania Smertenko, Venkateswaran Ramesh, Jennifer Duff, Langping He, Vivienne C.M. Neeve, Birgit Czermin, Andrew A. M. Morris, Douglass M. Turnbull

المساهمون: Çocuk Sağlığı ve Hastalıkları

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Mitochondrial Diseases, Adolescent, Mitochondrial disease, DNA Mutational Analysis, Respiratory chain, Medizin, whole exome sequencing, respiratory chain defects, Article, General & Internal Medicine, medicine, Humans, Exome, Leigh disease, Child, Exome sequencing, Genetics, business.industry, Haplotype, Genetic disorder, Computational Biology, Infant, Sequence Analysis, DNA, General Medicine, medicine.disease, Mitochondrial respiratory chain, Haplotypes, Child, Preschool, Female, business

وصف الملف: text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b8f092916ac109b068ca565fe945cba
http://hdl.handle.net/11655/14508