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

Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility

导致髓鞘形成减退性白质营养不良症-15 的纯合 EPRS1 错义变异会改变变异远端 mRNA m6A 位点的可及性

Debjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, Arnab China, Krishnendu Khan, Fabio Cumbo, Dalia Halawani, Fulvia Terenzi, Isaac Zin, Briana Long, Gregory Costain, Susan Blaser, Amanda Carnevale, Valentin Gogonea, Ranjan Dutta, Daniel Blankenberg, Grace Yoon, Paul L Fox

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation

神经退行性 VPS41 变体抑制 HOPS 功能和 mTORC1 依赖的 TFEB/TFE3 调节

Reini E N van der Welle, Rebekah Jobling, Christian Burns, Paolo Sanza, Jan A van der Beek, Alfonso Fasano, Lan Chen, Fried J Zwartkruis, Susan Zwakenberg, Edward F Griffin, Corlinda Ten Brink, Tineke Veenendaal, Nalan Liv, Conny M A van Ravenswaaij-Arts, Henny H Lemmink, Rolph Pfundt, Susan Blaser,

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder

扩大先天性 NAD 缺乏症基因型和表型谱的新病例

Justin O Szot, Anne Slavotinek, Karen Chong, Oliver Brandau, Marjan Nezarati, Anna M Cueto-González, Millan S Patel, Walter P Devine, Shannon Rego, Alicia P Acyinena, Patrick Shannon, Diane Myles-Reid, Susan Blaser, Tim V Mieghem, Halenur Yavuz-Kienle, Heyko Skladny, Kristen Miller, Miereia D T Rier

Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy

编码线粒体 LonP1 蛋白酶的 LONP1 双等位基因突变导致丙酮酸脱氢酶缺乏和严重的神经退行性病变,并伴有进行性小脑萎缩

Graeme A M Nimmo, Sundararajan Venkatesh, Ashutosh K Pandey, Christian R Marshall, Lili-Naz Hazrati, Susan Blaser, Sohnee Ahmed, Jessie Cameron, Kamalendra Singh, Peter N Ray, Carolyn K Suzuki, Grace Yoon

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS)

与 ALDH18A1 突变相关的表型谱进一步扩展,编码 Δ¹-吡咯烷-5-羧酸合酶 (P5CS)

David L Skidmore, David Chitayat, Tim Morgan, Alek Hinek, Bjoern Fischer, Aikaterini Dimopoulou, Gino Somers, William Halliday, Susan Blaser, Yenge Diambomba, Edmond G Lemire, Uwe Kornak, Stephen P Robertson