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

Plasma versus serum: which is better for proteomic blood biomarker analysis? Evaluation of the novel NULISA platform

血浆与血清:哪种更适合蛋白质组学血液生物标志物分析?新型NULISA平台的评估

Peymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico; Carrozzo, Rosalba; Diodato, Daria; Distelmaier, Felix; Fang, Fang; Ghezzi, Daniele; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas; Stenton, Sarah L; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rötig, Agnés; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei; Prokisch, Holger; Song, Yeunjoo E; Wang, Ping; Laux, Renee A; Fuzzell, Sarada L; Hochstetler, Sherri D; Miskimen, Kristy L; Lynn, Audrey; Wang, Weihuan; Liu, Yining; Moore, Noel C; Gulyayev, Alex V; Dorfsman, Daniel A; Caywood, Laura J; Clouse, Jason E; Herington, Sharlene D; Prough, Michael B; Slifer, Susan H; Adams, Larry D; Whitehead, Patrice G; Vance, Jeffery M; Cuccaro, Michael L; Ogrocki, Paula K; Lerner, Alan J; Pericak‐Vance, Margaret; Scott, William K; Bush, William S; Haines, Jonathan L; Griswold, Anthony J; Akinyemi, Rufus O; Rajabli, Farid; Ayele, Biniyam A; Coker, Motunrayo; Scott, Kyle M; Akinwande, Kazeem; Adams, Larry D; Diala, Samuel; Whitehead, Patrice G; McCauley, Jacob L; Ogunronbi, Mayowa; Hamilton‐Nelson, Kara L; Damasceno, Albertino; Zaman, Andrew F; Zewde, Yared Z; NJAMNSHI, Alfred Kongnyu; Caban‐Holt, Allison M; Ndetei, David; Sarfo, Fred Stephen; Akinyemi, Joshua O; Blanton, Susan H; Akpalu, Albert; Cuccaro, Michael L; Wahab, Kolawole; Gugssa, Seid Ali; McInerney, Katalina F; Obiako, Reginald; Baiyewu, Olusegun; Walker, Richard; Mena, Pedro R; Okubadejo, Njideka U; Martinez, Izri M; Kunkle, Brian W; Paddick, Stella‐Maria; Kalaria, Raj; Ogunniyi, Adesola; Vance, Jeffery M; Reitz, Christiane; Seshadri, Sudha; Guerchet, Maëlenn; Tosto, Giuseppe; Williams, Scott M; Bush, William S; Haines, Jonathan L; Byrd, Goldie S; Pericak‐Vance, Margaret; Farinas, Marissa F; Chen, Yijun; Zeng, Xuemei; Nafash, Michel N; Gogola, Alexandra; Kofler, Julia K; Tudorascu, Dana L; Shaaban, C Elizabeth; Lingler, Jennifer H; Pascoal, Tharick A; Klunk, William E; Villemagne, Victor L; Berman, Sarah B; Sweet, Robert; Kamboh, M Ilyas; Ikonomovic, Milos D; Snitz, Beth E; Cohen, Ann D; Lopez, Oscar L; Karikari, Thomas K

Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome

通过全基因组测序和RNA测序鉴定出MICOS10变异与一种新型肝脑线粒体DNA耗竭综合征相关

Kishita, Yoshihito; Sugiura, Ayumu; Omichi, Nanako; Shimura, Masaru; Yatsuka, Yukiko; Nakamura, Kohta; Tanaka, Toju; Kubota, Mitsuru; Murayama, Kei; Ohtake, Akira; Okazaki, Yasushi

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

双等位基因 NSUN3 变异导致多种表型谱疾病:从孤立性视神经萎缩到严重的早发性线粒体疾病

Jurkute Neringa, Brennenstuhl Heiko, Kustermann Monika, Van Haute Lindsey, Mutti Christian D, Bugiardini Enrico, Handa Takayuki, Shimura Masaru, Petzold Axel, Acheson James, Robson Anthony G, Macken William L, Hanna Michael G, Pitceathly Robert D S, Merve Ashirwad, Kotzaeridou Urania, Kölker Stefan, Freilinger Michael, Erdler Marcus, Bittner Reginald E, Mayr Johannes A, Okazaki Yasushi, Murayama Kei, Prokisch Holger, Webster Andrew R, Minczuk Michal, Arno Gavin, Pemp Berthold, Hoffmann Georg F, Schmidt Wolfgang M, Yu-Wai-Man Patrick

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy

日本新生儿溶酶体贮积症和肾上腺脑白质营养不良筛查经验

Onuki, Takanori; Tajika, Makiko; Sugiyama, Yohei; Shimura, Masaru; Ichimoto, Keiko; Tanaka, Toju; Nyuzuki, Hiromi; Kosuga, Motomichi; Migita, Ohsuke; Ito, Tetsuya; Sasai, Hideo; Bo, Ryosuke; Hamada, Junpei; Hamazaki, Takashi; Sakai, Norio; Inoue, Takahito; Nakamura, Kimitoshi; Okuyama, Torayuki; Murayama, Kei

Genetic landscape of pediatric acute liver failure of indeterminate origin

儿童不明原因急性肝衰竭的遗传图谱

Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier L; Crushell, Ellen; Dalgiç, Buket; Das, Anibh M; Dezsőfi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaçlioğlu, Ceyda T; Knoppke, Birgit; Kohl, Martina; Kölbel, Heike; Kölker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloğlu, Zarife; Kuster, Alice; Laass, Martin W; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Müller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petković Ramadža, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnès; Santer, René; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B; Zakharova, Ekaterina; Hoffmann, Georg F; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger

Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.

双等位基因 GGGCC 重复扩增导致 NAXE 相关线粒体脑病

Ozaki Kokoro, Yatsuka Yukiko, Oyazato Yoshinobu, Nishiyama Atsushi, Nitta Kazuhiro R, Kishita Yoshihito, Fushimi Takuya, Shimura Masaru, Noma Shohei, Sugiyama Yohei, Tagami Michihira, Fukunaga Moe, Kinoshita Hiroko, Hirata Tomoko, Suda Wataru, Murakawa Yasuhiro, Carninci Piero, Ohtake Akira, Murayama Kei, Okazaki Yasushi

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome

脱氧鸟苷激酶缺乏症:自然病程和肝移植结果

Manzoni, Eleonora; Carli, Sara; Gaignard, Pauline; Schlieben, Lea Dewi; Hirano, Michio; Ronchi, Dario; Gonzales, Emmanuel; Shimura, Masaru; Murayama, Kei; Okazaki, Yasushi; Barić, Ivo; Petkovic Ramadza, Danijela; Karall, Daniela; Mayr, Johannes; Martinelli, Diego; La Morgia, Chiara; Primiano, Guido; Santer, René; Servidei, Serenella; Bris, Céline; Cano, Aline; Furlan, Francesca; Gasperini, Serena; Laborde, Nolwenn; Lamperti, Costanza; Lenz, Dominic; Mancuso, Michelangelo; Montano, Vincenzo; Menni, Francesca; Musumeci, Olimpia; Nesbitt, Victoria; Procopio, Elena; Rouzier, Cécile; Staufner, Christian; Taanman, Jan-Willem; Tal, Galit; Ticci, Chiara; Cordelli, Duccio Maria; Carelli, Valerio; Procaccio, Vincent; Prokisch, Holger; Garone, Caterina

Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy

全基因组和外显子组测序发现 NDUFV2 突变是进行性空洞性白质脑病的新病因。

Liu, Zhimei; Zhang, Li; Ren, Changhong; Xu, Manting; Li, Shufang; Ban, Rui; Wu, Ye; Chen, Ling; Sun, Suzhen; Elstner, Matthias; Shimura, Masaru; Ogawa-Tominaga, Minako; Murayama, Kei; Shi, Tieliu; Prokisch, Holger; Fang, Fang

Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis

新生儿期发病的线粒体疾病:临床特征、分子诊断和预后

Ebihara, Tomohiro; Nagatomo, Taro; Sugiyama, Yohei; Tsuruoka, Tomoko; Osone, Yoshiteru; Shimura, Masaru; Tajika, Makiko; Matsuhashi, Tetsuro; Ichimoto, Keiko; Matsunaga, Ayako; Akiyama, Nana; Ogawa-Tominaga, Minako; Yatsuka, Yukiko; Nitta, Kazuhiro R; Kishita, Yoshihito; Fushimi, Takuya; Imai-Okazaki, Atsuko; Ohtake, Akira; Okazaki, Yasushi; Murayama, Kei

A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia

日本单中心研究阿司匹林α治疗儿童起病型低磷酸血症的疗效和安全性

Sugiyama, Yohei; Watanabe, Taijiro; Tajika, Makiko; Matsuhashi, Tetsuro; Shimura, Masaru; Fushimi, Takuya; Ichimoto, Keiko; Matsunaga, Ayako; Ebihara, Tomohiro; Tsuruoka, Tomoko; Akiyama, Tomoyuki; Murayama, Kei