A citation-based method for searching scientific literature

Anna C Need, Vandana Shashi, Yuki Hitomi, Kelly Schoch, Kevin V Shianna, Marie T McDonald, Miriam H Meisler, David B Goldstein. J Med Genet 2012
Times Cited: 276



Ahmet Okay Caglayan, Sinan Comu, Jacob F Baranoski, Yesim Parman, Hande Kaymakçalan, Gozde Tugce Akgumus, Caner Caglar, Duygu Dolen, Emine Zeynep Erson-Omay, Akdes Serin Harmanci, Ketu Mishra-Gorur, Hudson H Freeze, Katsuhito Yasuno, Kaya Bilguvar, Murat Gunel. Eur J Med Genet 2015
Times Cited: 47




List of shared articles



Times cited

NGLY1 deficiency: Novel variants and literature review.
Ariana Kariminejad, Marjan Shakiba, Mehrvash Shams, Parva Namiranian, Maryam Eghbali, Said Talebi, Mina Makvand, Jaak Jaeken, Hossein Najmabadi, Raoul C Hennekam. Eur J Med Genet 2021
1

JF1/B6F1 Ngly1-/- mouse as an isogenic animal model of NGLY1 deficiency.
Makoto Asahina, Reiko Fujinawa, Haruhiko Fujihira, Yuki Masahara-Negishi, Tomohiro Andou, Ryuichi Tozawa, Tadashi Suzuki. Proc Jpn Acad Ser B Phys Biol Sci 2021
2

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
Ivana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, Kimiyo Raymond, Franklin Ducatez, Anne-Marie Guerrot, Sarah Snanoudj, Sophie Coutant, Pascale Saugier-Veber, Stéphane Marret,[...]. Life (Basel) 2021
0

Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
Makoto Asahina, Reiko Fujinawa, Hiroto Hirayama, Ryuichi Tozawa, Yasushi Kajii, Tadashi Suzuki. Mol Brain 2021
1

Tracing the NGLY1 footprints: Insights from Drosophila.
Ashutosh Pandey, Hamed Jafar-Nejad. J Biochem 2021
0

Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation.
Patryk Lipiński, Anna Bogdańska, Piotr Socha, Anna Tylki-Szymańska. Front Pediatr 2021
0

Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress.
Haruhiko Fujihira, Yuki Masahara-Negishi, Yoshihiro Akimoto, Hiroto Hirayama, Hyeon-Cheol Lee, Benjamin A Story, William F Mueller, Petra Jakob, Sandra Clauder-Münster, Lars M Steinmetz,[...]. Biochim Biophys Acta Mol Basis Dis 2020
6


NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
Patryk Lipiński, Anna Bogdańska, Agnieszka Różdżyńska-Świątkowska, Aldona Wierzbicka-Rucińska, Anna Tylki-Szymańska. JIMD Rep 2020
7

Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.
Makoto Asahina, Reiko Fujinawa, Sayuri Nakamura, Kotaro Yokoyama, Ryuichi Tozawa, Tadashi Suzuki. Hum Mol Genet 2020
7

Loss of N-Glycanase 1 Alters Transcriptional and Translational Regulation in K562 Cell Lines.
William F Mueller, Petra Jakob, Han Sun, Sandra Clauder-Münster, Sonja Ghidelli-Disse, Diana Ordonez, Markus Boesche, Marcus Bantscheff, Paul Collier, Bettina Haase,[...]. G3 (Bethesda) 2020
1

NGLY1 deficiency-A rare congenital disorder of deglycosylation.
Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar. JIMD Rep 2020
4

Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation.
Haixia Ge, Qingbin Wu, Huigang Lu, Yong Huang, Tingting Zhou, Danlin Tan, ZhongqinJin. BMC Med Genet 2020
4

Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency.
Britt J van Keulen, Joost Rotteveel, Martijn J J Finken. Physiol Rep 2019
11


Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Hanneke A Haijes, Monique G M de Sain-van der Velden, Hubertus C M T Prinsen, Anke P Willems, Maria van der Ham, Johan Gerrits, Madeline H Couse, Jan M Friedman, Clara D M van Karnebeek, Kathryn A Selby,[...]. Mol Genet Metab 2019
7

An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene.
Shu Yang, Yu-Shan Cheng, Rong Li, Manisha Pradhan, Junjie Hong, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matt Might, Steven Rodems,[...]. Stem Cell Res 2019
1


Mining for mitochondrial mechanisms: Linking known syndromes to mitochondrial function.
D M Panneman, J A Smeitink, R J Rodenburg. Clin Genet 2018
5

A New Fluorogenic Probe for the Detection of endo-β-N-Acetylglucosaminidase.
Nozomi Ishii, Chie Sunaga, Kanae Sano, Chengcheng Huang, Kenta Iino, Yuji Matsuzaki, Tadashi Suzuki, Ichiro Matsuo. Chembiochem 2018
6

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
Patricia L Hall, Christina Lam, John J Alexander, Ghazia Asif, Gerard T Berry, Carlos Ferreira, Hudson H Freeze, William A Gahl, Kim K Nickander, Jon D Sharer,[...]. Mol Genet Metab 2018
10

Stress and interferon signalling-mediated apoptosis contributes to pleiotropic anticancer responses induced by targeting NGLY1.
Ashwini Zolekar, Victor J T Lin, Nigam M Mishra, Yin Ying Ho, Hamed S Hayatshahi, Abhishek Parab, Rohit Sampat, Xiaoyan Liao, Peter Hoffmann, Jin Liu,[...]. Br J Cancer 2018
6

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Christina Lam, Carlos Ferreira, Donna Krasnewich, Camilo Toro, Lea Latham, Wadih M Zein, Tanya Lehky, Carmen Brewer, Eva H Baker, Audrey Thurm,[...]. Genet Med 2017
58