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

Vacuolar-type H(+)-ATPase-mediated extra-organellar buffering resolves mitochondrial dysfunction

液泡型H(+)-ATPase介导的细胞器外缓冲作用可解决线粒体功能障碍

Monteuuis, Geoffray; Awadhpersad, Ryan; van der Kolk, Daan; Singh, Sachin K; Nyman, Tuula A; Malyutina, Alina; Zamboni, Nicola; Moisio, Kari; Juutila, Juhana; Hietakangas, Ville; Seneca, Sara; Carroll, Christopher J; Jackson, Christopher B

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

SLC31A1相关发育性和癫痫性脑病的临床和分子特征:来自13个新病例的见解。

Juliá-Palacios Natalia, Muñoz-Pujol Gerard, Maroofian Reza, Bertoli-Avella Aida M, Gómez-Chiari Marta, Muchart-López Jordi, Paredes-Fuentes Abraham J, O'Callaghan Mar, Machado-Casas Irene S, Cristian Ingrid, Morrison Jennifer, Garcia-Cazorla Angels, Codina Anna, Miryounesi Mohammad, Zonic Emir, Bauer Peter, Cheema Huma, Anjum Muhammad Nadeem, Al-Sannaa Nouriya, Abd Elmaksoud Marwa, Ababneh Faroug, Alijanpour Sahar, Tonekaboni Seyed Hassan, Fayazi Afshin, Urbaniak Maria, Barba Uxía, Hoenicka Janet, Palau Francesc, Houlden Henry, Ortigoza-Escobar Juan Darío, Ribes Antonia, Santos-Ocaña Carlos, Tyler Millie, Gaffney Patrick, Carroll Christopher J, Tort Frederic, Wierenga Klaas J, Webb Bryn D, Artuch Rafael, Baide-Mairena Heidy, Urreizti Roser

Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene

由PMPCB基因中一种新的剪接变异引起的Leigh综合征,伴有发育倒退和共济失调。

Matthews, Emma; Whittle, Ella F; Khan, Faraan; McEntagart, Meriel; Carroll, Christopher J

Phenotypic continuum of NFU1-related disorders

NFU1相关疾病的表型连续谱

Kaiyrzhanov, Rauan; Zaki, Maha S; Lau, Tracy; Sen, Sambuddha; Azizimalamiri, Reza; Zamani, Mina; Sayin, Gözde Yeşil; Hilander, Taru; Efthymiou, Stephanie; Chelban, Viorica; Brown, Ruth; Thompson, Kyle; Scarano, Maria Irene; Ganesh, Jaya; Koneev, Kairgali; Gülaçar, Ismail Musab; Person, Richard; Sadykova, Dinara; Maidyrov, Yerdan; Seifi, Tahereh; Zadagali, Aizhan; Bernard, Geneviève; Allis, Katrina; Elloumi, Houda Zghal; Lindy, Amanda; Taghiabadi, Ehsan; Verma, Sumit; Logan, Rachel; Kirmse, Brian; Bai, Renkui; Khalaf, Shaimaa M; Abdel-Hamid, Mohamed S; Sedaghat, Alireza; Shariati, Gholamreza; Issa, Mahmoud; Zeighami, Jawaher; Elbendary, Hasnaa M; Brown, Garry; Taylor, Robert W; Galehdari, Hamid; Gleeson, Joseph J; Carroll, Christopher J; Cowan, James A; Moreno-De-Luca, Andres; Houlden, Henry; Maroofian, Reza

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein

HIDEA综合征是由双等位基因、致病性、罕见或创始型P4HTM变异引起的,这些变异会影响P4H-TM蛋白的活性位点或整体稳定性。

Kraatari-Tiri, Minna; Soikkonen, Leila; Myllykoski, Matti; Jamshidi, Yalda; Karimiani, Ehsan G; Komulainen-Ebrahim, Jonna; Kallankari, Hanna; Mignot, Cyril; Depienne, Christel; Keren, Boris; Nougues, Marie-Christine; Alsahlawi, Zahra; Romito, Antonio; Martini, Javier; Toosi, Mehran B; Carroll, Christopher J; Tripolszki, Kornelia; Bauer, Peter; Uusimaa, Johanna; Bertoli-Avella, Aida M; Koivunen, Peppi; Rahikkala, Elisa

An overview of international genetic evaluations of show jumping in sport horses

国际马术障碍赛遗传评估概述

Doyle, Jennifer L; Carroll, Christopher J; Corbally, Alison F; Fahey, Alan G

Genetic background of ataxia in children younger than 5 years in Finland

芬兰5岁以下儿童共济失调的遗传背景

Ignatius, Erika; Isohanni, Pirjo; Pohjanpelto, Max; Lahermo, Päivi; Ojanen, Simo; Brilhante, Virginia; Palin, Eino; Suomalainen, Anu; Lönnqvist, Tuula; Carroll, Christopher J

Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers

线粒体疾病和包涵体肌炎患者的代谢组学:治疗靶点和生物标志物

Buzkova, Jana; Nikkanen, Joni; Ahola, Sofia; Hakonen, Anna H; Sevastianova, Ksenia; Hovinen, Topi; Yki-Järvinen, Hannele; Pietiläinen, Kirsi H; Lönnqvist, Tuula; Velagapudi, Vidya; Carroll, Christopher J; Suomalainen, Anu

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

编码 GPI 转酰胺酶复合物蛋白的 GPAA1 基因突变会导致发育迟缓、癫痫、小脑萎缩和骨质减少。

Nguyen, Thi Tuyet Mai; Murakami, Yoshiko; Sheridan, Eamonn; Ehresmann, Sophie; Rousseau, Justine; St-Denis, Anik; Chai, Guoliang; Ajeawung, Norbert F; Fairbrother, Laura; Reimschisel, Tyler; Bateman, Alexandra; Berry-Kravis, Elizabeth; Xia, Fan; Tardif, Jessica; Parry, David A; Logan, Clare V; Diggle, Christine; Bennett, Christopher P; Hattingh, Louise; Rosenfeld, Jill A; Perry, Michael Scott; Parker, Michael J; Le Deist, Françoise; Zaki, Maha S; Ignatius, Erika; Isohanni, Pirjo; Lönnqvist, Tuula; Carroll, Christopher J; Johnson, Colin A; Gleeson, Joseph G; Kinoshita, Taroh; Campeau, Philippe M

Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy

热休克蛋白 HSP70 的核转运蛋白 Hikeshi 的缺失会导致婴儿髓鞘形成不足性白质脑病。

Vasilescu, Catalina; Isohanni, Pirjo; Palomäki, Maarit; Pihko, Helena; Suomalainen, Anu; Carroll, Christopher J