-
1
المؤلفون: Marie-Cécile Nassogne, Imen Dorboz, Dana Dumitriu, Jean-François Benoist, Agnès Bourillon, Raphaël Helaers, Monique Elmaleh-Bergès, Apolline Imbard, Odile Boespflug-Tanguy, Marie-Françoise Vincent, Emile Van Schaftingen, Joseph P. Dewulf, Manuel Schiff, Alisha Malla, Avner Schlessinger, Ron A. Wevers, Malgorzata Rak, Florence Renaldo, Elsa Wiame
المصدر: Annals of Neurology. 85:385-395
مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Mutation, Chemistry, medicine.disease_cause, medicine.disease, Molecular biology, Reverse transcriptase, 3. Good health, Leukoencephalopathy, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, Cerebrospinal fluid, Neurology, symbols, medicine, Missense mutation, Choroid plexus, Neurology (clinical), 030217 neurology & neurosurgery, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f95dd7d5c884b463f765a315b275704dTest
https://doi.org/10.1002/ana.25412Test -
2
المؤلفون: Philippe Evrard, Cécile Marsac, Michèle Brivet, Monique Elmaleh-Bergès, Hélène Ogier de Baulny, Manuel Schiff, Manuèle Miné
المصدر: Annals of Neurology. 59:709-714
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Adolescent, Genetic Linkage, Blotting, Western, DNA Mutational Analysis, Encephalopathy, Pyruvate Dehydrogenase Complex, medicine.disease_cause, E3 binding protein, White matter, Basal ganglia necrosis, medicine, Humans, RNA, Messenger, Leigh disease, Mutation, biology, Reverse Transcriptase Polymerase Chain Reaction, medicine.disease, Pyruvate dehydrogenase complex, Magnetic Resonance Imaging, Pyruvate dehydrogenase deficiency, Review Literature as Topic, medicine.anatomical_structure, Neurology, biology.protein, Female, Neurology (clinical), Leigh Disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b545b508650093641000c82e9d75f590Test
https://doi.org/10.1002/ana.20818Test