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1Academic Journal
المؤلفون: Alaa Othman, Mingxia Liu, Heiko Bode, Elena Boudyguina, Arnold von Eckardstein, John S. Parks, Thorsten Hornemann
المصدر: Frontiers in Physiology, Vol 14 (2023)
مصطلحات موضوعية: sphingolipids, Tangier disease, serine-palmitoyltransferase, HDL, LDL, lipoprotein, Physiology, QP1-981
وصف الملف: electronic resource
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2
المؤلفون: Thorsten Hornemann, Irina Alecu, Heiko Bode, Saranya Suriyanarayanan, Arnold von Eckardstein, Florence Bourquin, Yu Wei, Alaa Othman
المصدر: Human Molecular Genetics. 25:853-865
مصطلحات موضوعية: Adult, Models, Molecular, 0301 basic medicine, Mutant, Serine C-Palmitoyltransferase, Gene Expression, Biology, medicine.disease_cause, Severity of Illness Index, Gas Chromatography-Mass Spectrometry, Serine, Structure-Activity Relationship, Young Adult, 03 medical and health sciences, Protein structure, Catalytic Domain, Hereditary sensory and autonomic neuropathy, Genetics, medicine, Humans, Hereditary Sensory and Autonomic Neuropathies, SPTLC1, Child, Molecular Biology, Genetics (clinical), Aged, Principal Component Analysis, Sphingolipids, Mutation, Alanine, Serine C-palmitoyltransferase, General Medicine, Middle Aged, medicine.disease, Phenotype, Recombinant Proteins, HEK293 Cells, 030104 developmental biology, Structural Homology, Protein, Isotope Labeling
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3
المؤلفون: Rolf Graf, Sabrina Sonda, Tanja Güntert, Yu Wei, Udo Ungethuem, Omolara O. Ogunshola, Kamile Grabliauskaite, Heiko Bode, Enrica Saponara, Thorsten Hornemann, Richard A. Zuellig, Arnold von Eckardstein, Jae-Hwi Jang, Alaa Othman, Adrian B. Hehl
المصدر: Diabetes
مصطلحات موضوعية: Ceramide, medicine.medical_specialty, business.industry, Ceramide synthase 5, Endocrinology, Diabetes and Metabolism, Sphingolipid, Filamentous actin, 3. Good health, Cell biology, chemistry.chemical_compound, Endocrinology, chemistry, Downregulation and upregulation, Internal medicine, Internal Medicine, Medicine, Signal transduction, Protein kinase A, business, Deoxysphingolipid
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4
المؤلفون: Irina Alecu, E Fähndrich, Heiko Bode, Alaa Othman, Kristl G. Claeys, Thorsten Hornemann, Maike F. Dohrn, Sarah Hirshman, Jörg B. Schulz, Joachim Weis, W Karges
المساهمون: University of Zurich, Claeys, K G
المصدر: European journal of neurology. 22(5)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, 610 Medicine & health, Sural nerve, Chronic inflammatory demyelinating polyneuropathy, Gastroenterology, Nerve conduction velocity, Vibration perception, Polyneuropathies, Diabetic Neuropathies, Diabetes mellitus, Internal medicine, 540 Chemistry, Medicine, Humans, 10038 Institute of Clinical Chemistry, Aged, Sphingolipids, business.industry, Amyotrophic Lateral Sclerosis, Sensory loss, Middle Aged, medicine.disease, Erythromelalgia, 2728 Neurology (clinical), medicine.anatomical_structure, Endocrinology, Neurology, Diabetes Mellitus, Type 2, 2808 Neurology, Female, Neurology (clinical), Disease Susceptibility, business, Polyneuropathy, Sensory nerve
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5
المؤلفون: Thorsten Hornemann, Heiko Bode, Bruno Ségui, Nathalie Andrieu-Abadie, Leonardo Astudillo, Frédérique Sabourdy, Nicole Therville, Thierry Levade
المصدر: Journal of inherited metabolic disease. 38(1)
مصطلحات موضوعية: Nervous system, Ataxia, Biology, medicine.disease_cause, Glycosphingolipids, Lipid Metabolism, Inborn Errors, Epilepsy, Mice, Genetics, medicine, Animals, Humans, Genetics (clinical), Paraplegia, Mutation, Sphingolipids, Ichthyosis, Retinitis, Peripheral Nervous System Diseases, medicine.disease, Phenotype, Sphingolipid, Human genetics, Disease Models, Animal, medicine.anatomical_structure, lipids (amino acids, peptides, and proteins), medicine.symptom
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6Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype
المؤلفون: Michaela, Auer-Grumbach, Heiko, Bode, Thomas R, Pieber, Maria, Schabhüttl, Dirk, Fischer, Rainer, Seidl, Elisabeth, Graf, Thomas, Wieland, Reinhard, Schuh, Gerda, Vacariu, Franz, Grill, Vincent, Timmerman, Tim M, Strom, Thorsten, Hornemann
المصدر: European Journal of Medical Genetics
مصطلحات موضوعية: Sphingolipids, SPTLC1, Short Clinical Report, Serine C-Palmitoyltransferase, Exons, Cataract, Phenotype, HSAN, Child, Preschool, Mutation, Serine, Humans, Female, Hereditary neuropathy, Hereditary Sensory and Autonomic Neuropathies, HSN
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7
المؤلفون: Rolf Geisen, Heiko Bode, Frank Raupp, Markus Schmidt-Heydt
المصدر: Mycotoxin research. 26(1)
مصطلحات موضوعية: Ochratoxin A, food and beverages, Biology, Toxicology, biology.organism_classification, Microbiology, Ochratoxins, chemistry.chemical_compound, Light intensity, chemistry, Biochemistry, Penicillium, Penicillium verrucosum, Food science, Penicillium nordicum, Ochratoxin, Incubation, Biotechnology
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8
المؤلفون: Heiko Bode, Henry Houlden, Thorsten Hornemann, Sinéad M. Murphy, Mary M. Reilly, M. Lauraá, James M. Polke, Julian Blake
المصدر: Neuromuscular Disorders. 22:S18
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Gastroenterology, Clinical neurology, Correlation, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Sensory neuropathy, Neurology (clinical), Psychiatry, business, Genetics (clinical)
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