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

Inhibition of the integrated stress response rescues a histidyl-tRNA synthetase variant associated with Charcot-Marie-Tooth disease.

抑制整合应激反应可以挽救与夏科-马里-图斯病相关的组氨酰-tRNA合成酶变体。

Mahmood Maria, Wilhelm Sarah D P, Mendes Marisa I, Smith Desiree E, Kenana Rosan, Hoffman Kyle, Moresco Angelica A, Siu Victoria Mok, Heinemann Ilka U

Dominant-negative NARS1 R534∗ mutation causes wild-type subunit poisoning and heterodimer predominance in cells

显性负性NARS1 R534∗突变导致野生型亚基中毒,并在细胞中形成异二聚体。

Vallee, Ingrid; Shapiro, Ryan; Qi, Leo; Mendes, Marisa I; Smith, Desiree E C; Zhang, Qian; Kanaji, Taisuke; Kuhle, Bernhard; Yang, Xiang-Lei

Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype

一名患有小头畸形、发育迟缓和头发脆弱表型的患者携带CARS1功能缺失变异

Del Greco, Christina; Kuo, Molly E; Smith, Desiree E C; Mendes, Marisa I; Salamons, Gajja S; Nemcovic, Marek; Kodrikova, Rebeka; Sestak, Sergej; Stancheva, Malina; Antonellis, Anthony

5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings

5,10-亚甲基四氢叶酸合成酶缺乏症:荷兰两名兄妹患有极其罕见的叶酸代谢缺陷

Liepina, Lelde; Smith, Desiree E C; Huidekoper, Hidde; Zeidler, Shimriet; Wamelink, Mirjam; de Wit, Marie-Claire; Wilke, Martina; Ruijter, George; Bierau, Jörgen; Blom, Henk J

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia

SLC13A1硫酸盐转运蛋白基因的双等位基因变异会导致低硫酸血症,并伴有轻度脊椎骨骺干骺端发育不良。

van de Kamp, Jiddeke M; Bökenkamp, Arend; Smith, Desiree E C; Wamelink, Mirjam M C; Jansen, Erwin E W; Struys, Eduard A; Waisfisz, Quinten; Verkleij, Marieke; Hartmann, Michaela F; Wang, Rong; Wudy, Stefan A; Paganini, Chiara; Rossi, Antonio; Finken, Martijn J J

Treatment of ARS deficiencies with specific amino acids

用特定氨基酸治疗ARS缺乏症

Kok, Gautam; Tseng, Laura; Schene, Imre F; Dijsselhof, Monique E; Salomons, Gajja; Mendes, Marisa I; Smith, Desiree E C; Wiedemann, Arnaud; Canton, Marie; Feillet, François; de Koning, Tom J; Boothe, Megan; Dean, Joy; Kassel, Rachel; Ferreira, Elise A; van den Born, Margreet; Nieuwenhuis, Edward E S; Rehmann, Holger; Terheggen-Lagro, Suzanne W J; van Karnebeek, Clara D M; Fuchs, Sabine A

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

缬氨酰-tRNA合成酶基因VARS的双等位基因突变与进行性神经发育性癫痫性脑病有关

Friedman Jennifer, Smith Desiree E, Issa Mahmoud Y, Stanley Valentina, Wang Rengang, Mendes Marisa I, Wright Meredith S, Wigby Kristen, Hildreth Amber, Crawford John R, Koehler Alanna E, Chowdhury Shimul, Nahas Shareef, Zhai Liting, Xu Zhiwen, Lo Wing-Sze, James Kiely N, Musaev Damir, Accogli Andrea, Guerrero Kether, Tran Luan T, Omar Tarek E I, Ben-Omran Tawfeg, Dimmock David, Kingsmore Stephen F, Salomons Gajja S, Zaki Maha S, Bernard Geneviève, Gleeson Joseph G

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

双等位基因TARS突变与脆发表型相关

Theil, Arjan F; Botta, Elena; Raams, Anja; Smith, Desiree E C; Mendes, Marisa I; Caligiuri, Giuseppina; Giachetti, Sarah; Bione, Silvia; Carriero, Roberta; Liberi, Giordano; Zardoni, Luca; Swagemakers, Sigrid M A; Salomons, Gajja S; Sarasin, Alain; Lehmann, Alan; van der Spek, Peter J; Ogi, Tomoo; Hoeijmakers, Jan H J; Vermeulen, Wim; Orioli, Donata

Changes in intracellular folate metabolism during high-dose methotrexate and Leucovorin rescue therapy in children with acute lymphoblastic leukemia

急性淋巴细胞白血病患儿接受高剂量甲氨蝶呤和亚叶酸钙解救治疗期间细胞内叶酸代谢的变化

Oosterom, Natanja; de Jonge, Robert; Smith, Desiree E C; Pieters, Rob; Tissing, Wim J E; Fiocco, Marta; van Zelst, Bertrand D; van den Heuvel-Eibrink, Marry M; Heil, Sandra G

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

编码谷氨酰-脯氨酰-氨酰-tRNA合成酶的EPRS基因的双等位基因突变会导致髓鞘形成不足性脑白质营养不良

Mendes, Marisa I; Gutierrez Salazar, Mariana; Guerrero, Kether; Thiffault, Isabelle; Salomons, Gajja S; Gauquelin, Laurence; Tran, Luan T; Forget, Diane; Gauthier, Marie-Soleil; Waisfisz, Quinten; Smith, Desiree E C; Simons, Cas; van der Knaap, Marjo S; Marquardt, Iris; Lemes, Aida; Mierzewska, Hanna; Weschke, Bernhard; Koehler, Wolfgang; Coulombe, Benoit; Wolf, Nicole I; Bernard, Geneviève