نتائج البحث

العلاقة: volume:350; firstpage:823; lastpage:828; numberofpages:6; journal:BIOCHEMICAL JOURNAL; http://hdl.handle.net/11588/164872Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0034664941

الإتاحة: http://hdl.handle.net/11588/164872Test

View record in BASE

4

The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS

المؤلفون: P Van, Damme, A, Goris, V, Race, N, Hersmus, B, Dubois, L Van Den, Bosch, G, Matthijs, W, Robberecht

المصدر: European journal of neurology. 17(5)

مصطلحات موضوعية: Adult, Genetic Markers, Male, Amyotrophic Lateral Sclerosis, Middle Aged, Pedigree, Cohort Studies, Belgium, Gene Frequency, Mutation, Disease Progression, Humans, RNA-Binding Protein FUS, Female, Genetic Predisposition to Disease, Genetic Testing, Age of Onset, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::cbda917ad6fb8d78501bcd3fb805fffcTest
https://pubmed.ncbi.nlm.nih.gov/19922450Test

5

New Evidences for a Regulation of Deoxycytidine Kinase Activity by Reversible Phosphorylation

المؤلفون: Caroline Smal, V. Race, G Van den Berghe, M. Veiga‐da‐Cunha, S. Cardoen, Sandrine Marie, Luc Bertrand, Françoise Bontemps, E. Van Den Neste, Augustin Ferrant

المصدر: ChemInform. 36

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::233e60fcf0795a70449675e2dbe46773Test
https://doi.org/10.1002/chin.200511208Test

6

Adenylosuccinate lyase deficiency: study of physiopathologic mechanism(s)

المؤلفون: Pascal Kienlen-Campard, Jean-Noël Octave, G Van den Berghe, Sandrine Marie, Emmanuel Hermans, Marie-Françoise Vincent, V. Race

المصدر: Nucleosides, nucleotidesnucleic acids. 23(8-9)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7e7aa1edf52ee595d0be91708b63a33Test
https://pubmed.ncbi.nlm.nih.gov/15571234Test

7

Adenylosuccinate lyase deficiency: from the clinics to molecular biology

المؤلفون: S, Marie, V, Race, M F, Vincent, G, Van den Berghe

المصدر: Advances in experimental medicine and biology. 486

مصطلحات موضوعية: Heating, Adenosine, Recombinant Fusion Proteins, Enzyme Stability, Adenylosuccinate Lyase, Gene Expression, Humans, Ribonucleotides, Aminoimidazole Carboxamide, Adenosine Monophosphate

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::c8af062458034314d7bef7169b6c3318Test
https://pubmed.ncbi.nlm.nih.gov/11783532Test

8

Adenylosuccinate Lyase Deficiency: From the Clinics to Molecular Biology

المؤلفون: Georges Van den Berghe, Sandrine Marie, V. Race, M. Françoise Vincent

المصدر: Purine and Pyrimidine Metabolism in Man X ISBN: 9780306465154

مصطلحات موضوعية: Genetics, Biochemistry, medicine, Biology, medicine.disease, Argininosuccinate lyase, Adenylosuccinate lyase deficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9ed8b5fa892609ebcbb09229ec4d478dTest
https://doi.org/10.1007/0-306-46843-3_15Test

9

Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency

المؤلفون: V. Race, Sandrine Marie, G Van den Berghe, Marie-Françoise Vincent, Marie-Cécile Nassogne

المساهمون: UCL - MD/BICL - Département de biochimie et de biologie cellulaire, UCL - MD/GYPE - Département de gynécologie, d'obstétrique et de pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique, UCL - MD/NOPS - Département de neurologie et de psychiatrie

المصدر: American journal of human genetics, Vol. 71, no. 1, p. 14-21 (2002)

مصطلحات موضوعية: Untranslated region, DNA, Complementary, Five prime untranslated region, Molecular Sequence Data, Mutation, Missense, Biology, chemistry.chemical_compound, Mental Retardation, Intellectual Disability, medicine, Genetics, Missense mutation, Coding region, Humans, Genetics(clinical), RNA, Messenger, Cloning, Molecular, Adenylosuccinate lyase, Promoter Regions, Genetic, Gene, Genetics (clinical), Alleles, Adenylosuccinate lyase deficiency, Binding Sites, Epilepsy, Base Sequence, Adenylosuccinate Lyase, Chromosome Mapping, Articles, medicine.disease, Molecular biology, GA-Binding Protein Transcription Factor, DNA-Binding Proteins, chemistry, Adenylosuccinate, Mutation, Mutagenesis, Site-Directed, Female, Promoter Regions (Genetics), 5' Untranslated Regions, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::310f5e738bae2d2880ff70065d1b56d3Test
https://pubmed.ncbi.nlm.nih.gov/12016589Test

10

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency

المؤلفون: Marie-Françoise Vincent, Sandrine Marie, Georges Van den Berghe, V. Race

المصدر: Human molecular genetics. 9(14)

مصطلحات موضوعية: Time Factors, Genotype, Recombinant Fusion Proteins, Mutation, Missense, Biology, medicine.disease_cause, chemistry.chemical_compound, Intellectual Disability, Genetics, medicine, Humans, Thermolabile, Adenylosuccinate lyase, Purine metabolism, Molecular Biology, Genetics (clinical), Adenylosuccinate lyase deficiency, chemistry.chemical_classification, Mutation, Homozygote, Adenylosuccinate Lyase, Temperature, General Medicine, Riboside, Fibroblasts, medicine.disease, Aminoimidazole Carboxamide, Adenosine Monophosphate, Recombinant Proteins, Kinetics, Enzyme, chemistry, Biochemistry, Adenylosuccinate, Chromatography, Gel, Electrophoresis, Polyacrylamide Gel, Ribonucleosides, 5' Untranslated Regions, Metabolism, Inborn Errors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abe022861dcccca9f1513352e0071971Test
https://pubmed.ncbi.nlm.nih.gov/10958654Test

تنقيح النتائج