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Y

Yoshiko Murakami

University of Osaka
H指数:49
被引数:6,665

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PIGC-related encephalopathy: Lessons learned from 18 new probands

PIGC相关的脑病：从18例新先证者中获得的经验教训

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2025-09-010
PRE
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.
Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGW

由于PIGW新型双等位致病性变异导致的糖基磷脂酰肌醇生物合成缺陷

PEDIATRIC NEUROLOGY
IF2.1
2025-06-010
OAAI
Rabouhi, Nazim; Salian, Smrithi; Benkerroum, Hind; Yoshida, Takeshi; Uddin, Humayra; Nguyen, Thi Tuyet Mai; Fujita, Takako; Hirose, Shinichi; Kosaki, Kenjiro; Lefebvre, Mathilde; Bourgon, Nicolas; Thauvin-Robinet, Christel; Kamalova, Aelita; Shakhirova, Almaziya; Gill, Harinder; Lee, Hyun Kyung; Menke, Leonie A.; Kinoshita, Taroh; Murakami, Yoshiko; Campeau, Philippe M.
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype

PIGG的隐性变异会导致运动神经病，并伴有可变的传导阻滞，儿童震颤和热性惊厥: 扩大表型

ANNALS OF NEUROLOGY
IF7.7
2024-10-230
OAAI
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, Sinead M.; Reilly, Mary M.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
BRAIN
IF11.7
2024-03-083
OAAI
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; Alvarez, Ignacio Delgado; Felipe-Rucian, 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; Lobel, 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
GENETICS IN MEDICINE
IF6.2
2023-01-019
OAAI
Loong, Lucy; Tardivo, Agostina; Knaus, Alexej; Hashim, Mona; Pagnamenta, Alistair T.; Alt, Kerstin; Boehrer-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.; Ploski, Rafal; Quarrell, Oliver W.; Rosello, Monica; Rydzanicz, Malgorzata; Sabir, Ataf; Smigiel, Robert; Stegmann, Alexander P. A.; Stewart, Helen; Stumpel, Constance; Szczepanik, Elzbieta; Tzschach, Andreas; Wolfe, Lynne; Taylor, Jenny C.; Murakami, Yoshiko; Kinoshita, Taroh; Bayat, Allan; Kini, Usha
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy (vol 108, pg 739, 2021)
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-03-010
OAAI
Fatima, Ambrin; Hoeber, Jan; Schuster, Jens; Koshimizu, Eriko; Maya-Gonzalez, Carolina; Keren, Boris; Mignot, Cyril; Akram, Talia; Ali, Zafar; Miyatake, Satoko; Tanigawa, Junpei; Koike, Takayoshi; Kato, Mitsuhiro; Murakami, Yoshiko; Abdullah, Uzma; Ali, Muhammad Akhtar; Fadoul, Rein; Laan, Loora; Castillejo-Lopez, Casimiro; Liik, Maarika; Jin, Zhe; Birnir, Bryndis; Matsumoto, Naomichi; Baig, Shahid M.; Klar, Joakim; Dahl, Niklas
PIGG variant pathogenicity assessment reveals characteristic features within 19 families
GENETICS IN MEDICINE
IF6.2
2021-10-018
OAAI
Tremblay-Laganiere, Camille; Maroofian, Reza; Nguyen, Thi Tuyet Mai; Karimiani, Ehsan Ghayoor; Kirmani, Salman; Akbar, Fizza; Ibrahim, Shahnaz; Afroze, Bushra; Doosti, Mohammad; Ashrafzadeh, Farah; Babaei, Meisam; Efthymiou, Stephanie; Christoforou, Marilena; Sultan, Tipu; Ladda, Roger L.; McLaughlin, Heather M.; Truty, Rebecca; Mahida, Sonal; Cohen, Julie S.; Baranano, Kristin; Ismail, Fatima Y.; Patel, Millan S.; Lehman, Anna; Edmondson, Andrew C.; Nagy, Amanda; Walker, Melissa A.; Mercimek-Andrews, Saadet; Maki, Yuta; Sachdev, Rani; Macintosh, Rebecca; Palmer, Elizabeth E.; Mancini, Grazia M. S.; Barakat, Tahsin Stefan; Steinfeld, Robert; Rusch, Christina T.; Stettner, Georg M.; Wagner, Matias; Wortmann, Saskia B.; Kini, Usha; Brady, Angela F.; Stals, Karen L.; Ismayilova, Naila; Ellard, Sian; Bernardo, Danilo; Nugent, Kimberly; McLean, Scott D.; Antonarakis, Stylianos E.; Houlden, Henry; Kinoshita, Taroh; Campeau, Philippe M.; Murakami, Yoshiko
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-04-0116
OAAI
Fatima, Ambrin; Hoeber, Jan; Schuster, Jens; Koshimizu, Eriko; Maya-Gonzalez, Carolina; Keren, Boris; Mignot, Cyril; Akram, Talia; Ali, Zafar; Miyatake, Satoko; Tanigawa, Junpei; Koike, Takayoshi; Kato, Mitsuhiro; Murakami, Yoshiko; Abdullah, Uzma; Ali, Muhammad Akhtar; Fadoul, Rein; Laan, Loora; Castillejo-Lopez, Casimiro; Liik, Maarika; Jin, Zhe; Birnir, Bryndis; Matsumoto, Naomichi; Baig, Shahid M.; Klar, Joakim; Dahl, Niklas

研究方向

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T
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H 指数:88论文数:435被引数:2.5万
Yusuke MAEDA 封面图
Yusuke MAEDA
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Philippe M. Campeau
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M
Morihisa Fujita
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P
Peter Krawitz
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T
Thi Tuyet Mai Nguyen
H 指数:16论文数:39被引数:1,104
N
Norimitsu Inoue
H 指数:41论文数:165被引数:5,996
T
Tetsuya Hirata
H 指数:17论文数:45被引数:893
P
Peter N. Robinson
H 指数:90论文数:798被引数:3.4万
S
Stefan Mundlos
H 指数:109论文数:760被引数:4.8万