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

Preferential use of alkyl-acyl phosphatidylinositol for GPI biosynthesis and diagnostic potential of lipidomics for inherited GPI deficiencies.

烷基酰基磷脂酰肌醇在 GPI 生物合成中的优先应用以及脂质组学在遗传性 GPI 缺乏症诊断中的潜力。

Li Xueying, Imanishi Kae, Umeshita Saori, Senoo Yuya, Guerrero Paula A, Silva Daniel Varon, Ikeda Kazutaka, Kinoshita Taroh, Murakami Yoshiko

Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype

PIGG基因隐性变异导致运动神经病,伴有可变传导阻滞、儿童震颤和热性惊厥:扩展表型

Record, Christopher J; O'Connor, Antoinette; Verbeek, Nienke E; van Rheenen, Wouter; Zamba Papanicolaou, Eleni; Peric, Stojan; Ligthart, Peter C; Skorupinska, Mariola; van Binsbergen, Ellen; Campeau, Philippe M; Ivanovic, Vukan; Hennigan, Brian; McHugh, John C; Blake, Julian C; Murakami, Yoshiko; Laura, Matilde; Murphy, Sinéad M; Reilly, Mary M

PIGC-related encephalopathy: Lessons learned from 18 new probands

PIGC相关性脑病:从18例新先证者中汲取的经验教训

Bayat, Allan; Borroto, Maria Carla; Salian, Smrithi; Zaki, Maha S; Benkerroum, Hind; Elbendary, Hasnaa M; Nguyen, Thi Tuyet Mai; Sadek, Abdelrahim A; Carli, Diana; Brusco, Alfredo; Ferrero, Giovanni Battista; Tartaglia, Marco; Hay, Eleanor; Krey, Ilona; A Jamra, Rami; Bartolomaeus, Tobias; Knaus, Alexej; Gleeson, Joseph G; Houlden, Henry; Dominik, Natalia; Jackson, Adam; Douzgou Houge, Sofia; Banka, Siddharth; Mohammadi-Asl, Javad; Hajjari, Mohammadreza; Azizimalamiri, Reza; Nourbakhsh, Pardis; Neissi, Mostafa; Scardamaglia, Annarita; Li, Dianfan; Kinoshita, Taroh; Maroofian, Reza; Murakami, Yoshiko; Campeau, Philippe M

ARV1 is a component of the enzyme initiating glycosylphosphatidylinositol biosynthesis.

ARV1 是启动糖基磷脂酰肌醇生物合成的酶的组成部分

Lu TianTian, Umeshita Saori, Imanishi Kae, Wang Yicheng, Liu Yi-Shi, Nagae Masamichi, Senoo Yuya, Ikeda Kazutaka, Fujita Morihisa, Kinoshita Taroh, Murakami Yoshiko

Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool

两例PIGQ-CDG新病例:基因型-表型谱的扩展及GestaltMatcher作为诊断工具的评估

Kušíková, Katarína; Hsieh, Tzung-Chien; Pfeifer, Mateja; Fauth, Christine; Murakami, Yoshiko; Laccone, Franco; Karall, Daniela; Bonfig, Walter; Stewart, Helen; Weis, Denisa

Extranodal marginal zone B-cell lymphoma with LP-like cells: indication of the link between MALT and nodular lymphocyte predominant Hodgkin lymphoma

结外边缘区B细胞淋巴瘤伴LP样细胞:提示MALT与结节性淋巴细胞为主型霍奇金淋巴瘤之间存在关联

Karube, Kennosuke; Tsuzuki, Megumi; Iwakoshi, Akari; Murakami, Yoshiko; Nishimura, Rieko

A patient with myasthenia gravis showing lower sensitivity to rocuronium and earlier recovery of train-of-four responses on electromyography compared to acceleromyography: a case report

一例重症肌无力患者对罗库溴铵敏感性较低,且肌电图四次刺激反应恢复较肌力描记图更早出现恢复的病例报告

Murakami, Yoshiko; Fujimoto, Masafumi; Hirata, Naoyuki

Gene replacement therapy for Piga GPI-anchor deficiency in the developing nervous system

针对发育中神经系统Piga GPI锚定缺陷的基因替代疗法

Watts, Jennifer L; Likhite, Shibi; Murakami, Yoshiko; Kinoshita, Taroh; Meyer, Kathrin; Stottmann, Rolf W

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

遗传性糖基磷脂酰肌醇缺乏症的临床和遗传谱

Sidpra, Jai; Sudhakar, Sniya; Biswas, Asthik; Massey, Flavia; Turchetti, Valentina; Lau, Tracy; Cook, Edward; Alvi, Javeria Raza; Elbendary, Hasnaa M; Jewell, Jerry L; Riva, Antonella; Orsini, Alessandro; Vignoli, Aglaia; Federico, Zara; Rosenblum, Jessica; Schoonjans, An-Sofie; de Wachter, Matthias; Delgado Alvarez, Ignacio; Felipe-Rucián, Ana; Haridy, Nourelhoda A; Haider, Shahzad; Zaman, Mashaya; Banu, Selina; Anwaar, Najwa; Rahman, Fatima; Maqbool, Shazia; Yadav, Rashmi; Salpietro, Vincenzo; Maroofian, Reza; Patel, Rajan; Radhakrishnan, Rupa; Prabhu, Sanjay P; Lichtenbelt, Klaske; Stewart, Helen; Murakami, Yoshiko; Löbel, Ulrike; D'Arco, Felice; Wakeling, Emma; Jones, Wendy; Hay, Eleanor; Bhate, Sanjay; Jacques, Thomas S; Mirsky, David M; Whitehead, Matthew T; Zaki, Maha S; Sultan, Tipu; Striano, Pasquale; Jansen, Anna C; Lequin, Maarten; de Vries, Linda S; Severino, Mariasavina; Edmondson, Andrew C; Menzies, Lara; Campeau, Philippe M; Houlden, Henry; McTague, Amy; Efthymiou, Stephanie; Mankad, Kshitij

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study

PIGN基因的双等位基因变异导致弗林斯综合征、多发性先天性异常-肌张力低下-癫痫综合征和神经系统表型:一项基因型-表型相关性研究

Loong, Lucy; Tardivo, Agostina; Knaus, Alexej; Hashim, Mona; Pagnamenta, Alistair T; Alt, Kerstin; Böhrer-Rabel, Helena; Caro-Llopis, Alfonso; Cole, Trevor; Distelmaier, Felix; Edery, Patrick; Ferreira, Carlos R; Jezela-Stanek, Aleksandra; Kerr, Bronwyn; Kluger, Gerhard; Krawitz, Peter M; Kuhn, Marius; Lemke, Johannes R; Lesca, Gaetan; Lynch, Sally Ann; Martinez, Francisco; Maxton, Caroline; Mierzewska, Hanna; Monfort, Sandra; Nicolai, Joost; Orellana, Carmen; Pal, Deb K; Płoski, Rafał; Quarrell, Oliver W; Rosello, Monica; Rydzanicz, Małgorzata; Sabir, Ataf; Śmigiel, Robert; Stegmann, Alexander P A; Stewart, Helen; Stumpel, Constance; Szczepanik, Elżbieta; Tzschach, Andreas; Wolfe, Lynne; Taylor, Jenny C; Murakami, Yoshiko; Kinoshita, Taroh; Bayat, Allan; Kini, Usha