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المؤلفون: H.J. ter Laak, Willy O. Renier, Fons J. M. Gabreëls, T. W. J. Hustinx, F. A. E. Nabben, J.H. Veerkamp, B. J. Otten, B. G. A. ter Haar
المصدر: Clinical Genetics. 24:243-251
مصطلحات موضوعية: Male, medicine.medical_specialty, Glycerol kinase, X Chromosome, Genetic Linkage, Disease, Muscular Dystrophies, Glycerol Kinase, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Muscular dystrophy, Growth Disorders, Genetics (clinical), X-linked recessive inheritance, Adrenal Hyperplasia, Congenital, biology, business.industry, Phosphotransferases, Infant, Newborn, Glycerol kinase deficiency, medicine.disease, Hypoplasia, Pedigree, Endocrinology, Gonadotrophin deficiency, Congenital adrenal hypoplasia, biology.protein, Female, business
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المؤلفون: Michèl A.A.P. Willemsen, Ron A. Wevers, Eva Morava, Suzan Wopereis, H.J. ter Laak, Dirk Lefeber, Johannes R.M. Cruysberg
المصدر: European Journal of Ophthalmology, 16, 190-4
European Journal of Ophthalmology, 16, 1, pp. 190-4مصطلحات موضوعية: medicine.medical_specialty, Glycosylation, Energy and redox metabolism [NCMLS 4], Neuroinformatics [DCN 3], Cutis Laxa, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Consanguinity, 0302 clinical medicine, Muscular Diseases, Polysaccharides, Internal medicine, Perception and Action [DCN 1], medicine, Dystroglycan, Myopia, Neurosensory disorders [UMCN 3.3], Humans, Abnormalities, Multiple, Myopathy, Cerebral Cortex, Muscle biopsy, medicine.diagnostic_test, biology, Pachygyria, Muscle weakness, Infant, General Medicine, Syndrome, Glycostation disorders [IGMD 4], medicine.disease, Congenital myopathy, Magnetic Resonance Imaging, carbohydrates (lipids), Ophthalmology, Mitochondrial medicine [IGMD 8], Endocrinology, Genetic defects of metabolism [UMCN 5.1], Growth and differentiation [NCMLS 3], Neuromuscular Development and genetic Disorders [UMCN 3.1], Mutation, 030221 ophthalmology & optometry, biology.protein, Congenital muscular dystrophy, Female, medicine.symptom, 030217 neurology & neurosurgery, Cutis laxa, Carbohydrate Metabolism, Inborn Errors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c9263549463105d052c0262778399aa
https://hdl.handle.net/2066/49372 -
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المؤلفون: Regina Ensenauer, Marloes H. Siers, H.J. ter Laak, Jan A.M. Smeitink, C. Boelen, Frans J.M. Trijbels, Frans A. Hol, Olga Grafakou, K Otfried Schwab
المصدر: Journal of Inherited Metabolic Disease, 26, 593-600
Journal of Inherited Metabolic Disease, 26, 6, pp. 593-600مصطلحات موضوعية: medicine.medical_specialty, Adolescent, Mitochondrial disease, Respiratory chain, Pain, Physical exercise, Exercise intolerance, Biology, DNA, Mitochondrial, Electrocardiography, Muscular Diseases, Mitochondrial myopathy, Evoked Potentials, Somatosensory, Internal medicine, Genetics, medicine, Humans, Muscle, Skeletal, RNA, Transfer, Ser, Genetics (clinical), Exercise Tolerance, Muscle biopsy, medicine.diagnostic_test, Electromyography, Reverse Transcriptase Polymerase Chain Reaction, Brain, Skeletal muscle, Electroencephalography, Fibroblasts, medicine.disease, Magnetic Resonance Imaging, Heteroplasmy, Tumor microenvironment [UMCN 1.3], Endocrinology, medicine.anatomical_structure, Genetic defects of metabolism [UMCN 5.1], Evoked Potentials, Auditory, Acidosis, Lactic, Female, medicine.symptom, Cellular energy metabolism [UMCN 5.3], Oxidation-Reduction
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المؤلفون: Martin Lammens, B.G.M. van Engelen, I.M.P. Gommans, H.J. ter Laak, Hubertus P. H. Kremer, O.J.M. Vogels, Han G. Brunner
المصدر: Neuromuscular Disorders, 12, 1, pp. 13-8
Neuromuscular Disorders, 12, 13-8مصطلحات موضوعية: Adult, Male, Biopsy, Elucidation of hereditary disorders and their molecular diagnosis, Neural Conduction, Myopathies, Nemaline, Nebulin, Nemaline myopathy, Myofibrils, X ray computed, medicine, Humans, Tumor pathology, Genetics (clinical), Aged, Family Health, Family health, Movement Disorders, Muscle Weakness, biology, Neuromusculaire en neurometabole aandoeningen, business.industry, Muscle weakness, Anatomy, Tumor pathologie, medicine.disease, Phenotype, Congenital myopathy, Pedigree, Microscopy, Electron, Neuromuscular and neurometabolic disorders, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek, business
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المؤلفون: Fons J. M. Gabreëls, A.A.W.M. Gabreëls-Festen, Ron A. Wevers, Antoon J.M. Janssen, Aad Verrips, H.J. ter Laak, Machiel J. Zwarts, B.G.M. van Engelen
المصدر: Neuromuscular Disorders. 10:407-414
مصطلحات موضوعية: medicine.medical_specialty, Pathology, medicine.diagnostic_test, business.industry, Muscle weakness, Sural nerve, Electromyography, medicine.disease, Cerebrotendinous Xanthomatosis, Surgery, Peripheral neuropathy, Mitochondrial respiratory chain, Neurology, Pediatrics, Perinatology and Child Health, Biopsy, Medicine, Neurology (clinical), medicine.symptom, business, Myopathy, Genetics (clinical)
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المؤلفون: R. C. A. Sengers, W. O. Renier, H.T. Kuppen, Q.H. Leyten, Fons J. M. Gabreëls, H.J. ter Laak
المصدر: Clinical Neurology and Neurosurgery, 100, 5-10
Clinical Neurology and Neurosurgery, 100, 1, pp. 5-10مصطلحات موضوعية: Male, musculoskeletal diseases, medicine.medical_specialty, Pathology, Inborn errors of metabolism, Basement Membrane, Muscular Dystrophies, Dystrophin, White matter, Laminin, Sarcoglycans, Internal medicine, Biopsy, medicine, Humans, Muscular dystrophy, Child, Dystroglycans, Muscle, Skeletal, Erfelijke stofwisselingsziekten, Membrane Glycoproteins, biology, medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, General Medicine, medicine.disease, Immunohistochemistry, Cytoskeletal Proteins, Study of the immune pathogenesis of polymyositis with the use of an animal model, Sarcoglycan, Endocrinology, medicine.anatomical_structure, Dierexperimenteel onderzoek naar de immunopathogenese van polymyositis, Child, Preschool, Congenital muscular dystrophy, biology.protein, Female, Surgery, Neurology (clinical), business
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المؤلفون: Willem F. M. Arts, N. van Alfen, Fons J. M. Gabreëls, H.J. ter Laak, B.G.M. van Engelen, A.A.W.M. Gabreëls-Festen
المساهمون: Neurology
المصدر: Journal of Neurology, Neurosurgery, and Psychiatry, 76, 445-7
Journal of Neurology Neurosurgery and Psychiatry, 76(3), 445-447. BMJ Publishing Group
Journal of Neurology, Neurosurgery, and Psychiatry, 76, 3, pp. 445-7مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Neuromuscular disease, Biopsy, Short Report, Sural nerve, Hereditary neuralgic amyotrophy, Electromyography, Sural Nerve, Perception and Action [DCN 1], Humans, Medicine, Brachial Plexus Neuropathies, Child, Muscle, Skeletal, Aged, Human Movement & Fatigue [NCEBP 10], Plexus, medicine.diagnostic_test, business.industry, DNA, Anatomy, Middle Aged, Amyotrophy, medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Renal disorders [UMCN 5.4], Psychiatry and Mental health, medicine.anatomical_structure, Peripheral nervous system, Heredodegenerative Disorders, Nervous System, Female, Surgery, Neurology (clinical), business, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
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المؤلفون: L.P.W.J. van den Heuvel, V. DePinto, L.M.E. Smit, H.J. ter Laak, Marjan Huizing, Wim Ruitenbeek, F.P. Thinnes, U.A.H. Wendel, Frans J.M. Trijbels
المصدر: Pediatric Research, 39, 5, pp. 760-765
Pediatric Research, 39, 760-765
Pediatric Research, 39, pp. 760-765مصطلحات موضوعية: Pyruvate decarboxylation, Male, Voltage-dependent anion channel, Mitochondrial disease, Porins, Western blot, Mitochondrion, Biology, Ion Channels, Voltage-Dependent Anion Channel 1, Mitochondrial myopathy, VDAC deficiency, Mitochondriële transportsystemen in mitochondriopathieën, Pyruvic Acid, medicine, Humans, Voltage-Dependent Anion Channels, Peripheral Nerves, Muscle, Skeletal, Pyruvates, Neuromusculaire en neurometabole aandoeningen, Skeletal muscle, Membrane Proteins, Mitochondrial Myopathies, Peripheral Nervous System Diseases, Skeletal, Neuromuscular Diseases, medicine.disease, Magnetic Resonance Imaging, Cell biology, Mitochondria, mitochondrial defect, Microscopy, Electron, medicine.anatomical_structure, Neuromuscular and neurometabolic disorders, Membrane protein, Biochemistry, Child, Preschool, Mitochondrial transport systems in mitochondriopathies, Pediatrics, Perinatology and Child Health, biology.protein, Muscle, Oxidation-Reduction
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dde9b758a134c83eb593f4437a25564
https://hdl.handle.net/2066/188324 -
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المؤلفون: Peter Joseph Jongen, W. J. Van Venrooij, F. W. A. Heessen, H.J. ter Laak, Fons J. M. Gabreëls, R. M. W. De Waal, I. Bergmann, J.M.D. Galama, L. B. A. Van De Putte, Jo H. M. Berden
المصدر: Journal of Autoimmunity. 7:727-737
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Necrosis, Immunology, Coxsackievirus Infections, Antigen-Antibody Complex, Biology, Complement Hemolytic Activity Assay, Polymyositis, Mice, Antibody Specificity, medicine, Animals, Immunology and Allergy, Myositis, Autoantibodies, Histocytochemistry, Muscles, Autoantibody, medicine.disease, Immune complex, Enterovirus B, Human, Mononuclear cell infiltration, Humoral immunity, biology.protein, medicine.symptom, Antibody
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المؤلفون: Arend Heerschap, Paul H.K. Jap, J. M. A. van Deursen, H.J. ter Laak, B. Wieringa, Wim Ruitenbeek
المصدر: Proceedings of the National Academy of Sciences. 91:9091-9095
مصطلحات موضوعية: Mutant, Gene Expression, Mitochondrion, Biology, Phosphocreatine, Mice, chemistry.chemical_compound, Gene expression, medicine, Animals, RNA, Messenger, Creatine Kinase, Mice, Knockout, Multidisciplinary, Glycogen, Muscles, Skeletal muscle, Molecular biology, Mitochondria, Muscle, Mutagenesis, Insertional, Phenotype, medicine.anatomical_structure, chemistry, biology.protein, Creatine kinase, Energy Metabolism, Myofibril, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede924e3be82b3f0ad4fe4e4fee222bb
https://doi.org/10.1073/pnas.91.19.9091
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