المؤلفون: D. Perucca-Lostanlen, Véronique Paquis-Flucklinger, Claude Desnuelle, H. Narbonne, B. Vialettes, Pascal Staccini, A. Saunières, J.B. Hernandez

المصدر: Biochemical and Biophysical Research Communications. 277:771-775

مصطلحات موضوعية: Adult, Mitochondrial DNA, Mutant, Biophysics, Deafness, Biology, medicine.disease_cause, DNA, Mitochondrial, Biochemistry, Pathogenesis, Diabetes mellitus genetics, Diabetes mellitus, Diabetes Mellitus, medicine, Humans, Molecular Biology, Gene, Aged, Genetics, Mutation, Point mutation, Genetic Variation, Syndrome, Cell Biology, Middle Aged, medicine.disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7380ae286bdb21b15513d85d576503aTest
https://doi.org/10.1006/bbrc.2000.3751Test

المؤلفون: Drago Bratkovic, Pascal Laforêt, Barry J. Byrne, William Lang, Robert D. Henderson, Claude Desnuelle, Richard J. Barohn, Mark Roberts, Jonathon LeBowitz, Tarekegn Hiwot, Bruce A. Barshop, Derralynn Hughes, Eugen Mengel

المصدر: Molecular Genetics and Metabolism. 111:S29

مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Late onset, Disease, medicine.disease, Biochemistry, Virology, Metachromatic leukodystrophy, Endocrinology, Genetics, medicine, Dementia, Juvenile, Age of onset, business, Molecular Biology, Developmental regression

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ef2eb916faf2e532fb4aa4ffd1b7c341Test
https://doi.org/10.1016/j.ymgme.2013.12.050Test

المؤلفون: Sabine Santucci-Darmanin, Françoise Lespinasse, Véronique Paquis-Flucklinger, Terry Ashley, Claude Desnuelle, Deepika Walpita

المساهمون: UMR 6549 CNRS, Centre National de la Recherche Scientifique (CNRS), Department of Genetics, Yale University School of Medecine, Department of Genetics, Yale University Scool of Medecine

المصدر: FASEB Journal
FASEB Journal, Federation of American Society of Experimental Biology, 2000, 14 (11), pp.1539-1547. ⟨10.1096/fj.99-0851com⟩

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, [SDV]Life Sciences [q-bio], Recombinant Fusion Proteins, Cell Cycle Proteins, MLH3, Biochemistry, Chromosomes, Chromosomal crossover, 03 medical and health sciences, Mice, 0302 clinical medicine, Adenosine Triphosphate, Spermatocytes, Genetics, Homologous chromosome, Animals, Humans, neoplasms, Molecular Biology, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Adaptor Proteins, Signal Transducing, Helix-Turn-Helix Motifs, Sequence Deletion, 0303 health sciences, Binding Sites, Chemistry, Synaptonemal Complex, Synapsis, Nuclear Proteins, DNA, Precipitin Tests, digestive system diseases, Neoplasm Proteins, Mice, Inbred C57BL, MSH5, Synaptonemal complex, Meiosis, MSH4, Homologous recombination, Carrier Proteins, MutL Protein Homolog 1, 030217 neurology & neurosurgery, Biotechnology, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::745daffca6c786413f75132221721a3dTest
https://pubmed.ncbi.nlm.nih.gov/10928988Test

المؤلفون: Drago Bratkovic, Jonathan H. LeBowitz, Barry J. Byrne, Tarekegn Geberhiwot, Richard J. Barohn, Claude Desnuelle, Mark Roberts, William Lang, Eugen Mengel, Bruce A. Barshop, Pascal Laforêt, Derralynn Hughes

المصدر: Molecular Genetics and Metabolism. 108:S28

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, media_common.quotation_subject, Genetics, Art, Molecular Biology, Biochemistry, Humanities, Virology, media_common, Queen (playing card)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6ad94391e656f0da2c4ff62b5d5988d1Test
https://doi.org/10.1016/j.ymgme.2012.11.048Test

المؤلفون: Claude Desnuelle, Valerie Askanas, W. King Engel

المصدر: FEBS Letters. (1-2):95-100

مصطلحات موضوعية: Dihydropyridines, Biophysics, chemistry.chemical_element, Muscle culture, Dihydropyridine receptor, Calcium, Biochemistry, Ion Channels, Nitrendipine, Structural Biology, Genetics, medicine, Humans, Binding site, Molecular Biology, IC50, Cells, Cultured, Oxadiazoles, Ca2+ channel, Ryanodine receptor, Calcium Radioisotopes, Muscles, Dihydropyridine, Depolarization, Cell Biology, Calcium Channel Blockers, Electrophysiology, chemistry, Cell culture, Potassium, Isradipine, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::578e756d7108739c154b4406fd06a91fTest

المؤلفون: Loren D.M. Pena, Ans van der Ploeg, Alan Pestronki, Jean Pouget, Shafeeq Ladha, Claude Desnuelle, John Vissing, Kerry Culm-Merdek, Peter Young, Philip Van Damme, Jaya Trivedi, Pascal Laforêt, Gerard Short, Volker Straub, Beth L. Thurberg, Richard Baron, Ozlem Goker-Alpan, Benedikt Schoser, Eugen Mengel, Barry J. Byrne

المصدر: Publons

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Late onset, Enzyme replacement therapy, Disease, Biochemistry, Gastroenterology, Therapy naive, Endocrinology, Internal medicine, Genetics, medicine, Physical therapy, business, Molecular Biology, Alglucosidase alfa, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::529908d6a6c0f9892dbcacdb43dff257Test
https://publons.com/publon/30519251Test/