日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development

婴儿期发病的肉碱棕榈酰转移酶2缺乏症:一名发育正常的青少年出现皮质多小脑回畸形、裂脑畸形和灰质异位

Shelihan, Ivan; Rossignol, Elsa; Décarie, Jean-Claude; Bonnefont, Jean-Paul; Brivet, Michèle; Brunel-Guitton, Catherine; Mitchell, Grant A

E4F1 controls a transcriptional program essential for pyruvate dehydrogenase activity

E4F1 控制丙酮酸脱氢酶活性所必需的转录程序

Matthieu Lacroix, Geneviève Rodier, Olivier Kirsh, Thibault Houles, Hélène Delpech, Berfin Seyran, Laurie Gayte, Francois Casas, Laurence Pessemesse, Maud Heuillet, Floriant Bellvert, Jean-Charles Portais, Charlene Berthet, Florence Bernex, Michele Brivet, Audrey Boutron, Laurent Le Cam, Claude Sard

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects

苯丁酸可增加含有多种缺陷的细胞中的丙酮酸脱氢酶复合物活性

Rosa Ferriero, Audrey Boutron, Michele Brivet, Douglas Kerr, Eva Morava, Richard J Rodenburg, Luisa Bonafé, Matthias R Baumgartner, Yair Anikster, Nancy E Braverman, Nicola Brunetti-Pierri

A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency

CPT1A基因的一种新突变导致肝脏CPT缺乏

Fontaine, Monique; Dessein, Anne-Frédérique; Douillard, Claire; Dobbelaere, Dries; Brivet, Michèle; Boutron, Audrey; Zater, Mokhtar; Mention-Mulliez, Karine; Martin-Ponthieu, Annie; Vianey-Saban, Christine; Briand, Gilbert; Porchet, Nicole; Vamecq, Joseph

Solitary hypothalamopituitary toxoplasmosis abscess in a patient with AIDS

一名艾滋病患者出现孤立性下丘脑垂体弓形虫脓肿。

Legrand, L; Catherine, L; Brivet, F; Musset, D

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

ACADM基因的一种新突变(c.145C>G)与另一ACADM等位基因上常见的c.985A>G突变相关,可导致轻度MCAD缺乏症:病例报告

Dessein, Anne-Frédérique; Fontaine, Monique; Andresen, Brage S; Gregersen, Niels; Brivet, Michèle; Rabier, Daniel; Napuri-Gouel, Silvia; Dobbelaere, Dries; Mention-Mulliez, Karine; Martin-Ponthieu, Annie; Briand, Gilbert; Millington, David S; Vianey-Saban, Christine; Wanders, Ronald J A; Vamecq, Joseph

Molecular Phylogenetic Relationships of Flightless Beetles Belonging to the Genus Mesechthistatus Breuning, (Coleoptera: Cerambycidae) Inferred from Mitochondrial COI Gene Sequences

基于线粒体COI基因序列推断的属于Mesechthistatus Breuning属的无翅甲虫(鞘翅目:天牛科)的分子系统发育关系

Sorlin, P; Brivet, E; Jean-Pierre, V; Aujoulat, F; Besse, A; Dupont, C; Chiron, R; Jumas-Bilak, E; Menetrey, Q; Marchandin, H; Nakamine, Hiroshi; Takeda, Makio

Valproic acid overdose and continuous venovenous haemodiafiltration

丙戊酸过量和连续性静脉-静脉血液透析滤过

Jacobs, Frédéric M; Pinot, Gabrielle; Prat, Dominique; Pilorge, Catherine; Brivet, François G

The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis

SR蛋白SC35是导致伴有乳酸性酸中毒的智力低下患者中E1α丙酮酸脱氢酶mRNA异常剪接的原因。

Gabut, Mathieu; Miné, Manuèle; Marsac, Cécile; Brivet, Michèle; Tazi, Jamal; Soret, Johann

Mutations in the membrane anchor of yeast cytochrome c1 compensate for the absence of Oxa1p and generate carbonate-extractable forms of cytochrome c1

酵母细胞色素c1膜锚的突变可以补偿Oxa1p的缺失,并产生碳酸盐可提取形式的细胞色素c1。

Hamel, P; Lemaire, C; Bonnefoy, N; Brivet-Chevillotte, P; Dujardin, G