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Items: 1 to 20 of 28

1.
History and Perspective of LAMP-2 Deficiency (Danon Disease)
Kazuma Sugie, Ichizo Nishino
Biomolecules. 2024 Oct; 14(10): 1272. Published online 2024 Oct 9. doi: 10.3390/biom14101272
PMCID:
PMC11506487
ArticlePDF–1.1M
2.
An Omicron-specific, self-amplifying mRNA booster vaccine for COVID-19: a phase 2/3 randomized trial
Amit Saraf, Rohan Gurjar, Swarnendu Kaviraj, Aishwarya Kulkarni, Durgesh Kumar, Ruta Kulkarni, Rashmi Virkar, Jayashri Krishnan, Anjali Yadav, Ekta Baranwal, Ajay Singh, Arjun Raghuwanshi, Praveen Agarwal, Laxman Savergave, Sanjay Singh, the GEMCOVAC-OM Study Investigators
Nat Med. 2024; 30(5): 1363–1372. Published online 2024 Apr 18. doi: 10.1038/s41591-024-02955-2
PMCID:
PMC11108772
ArticlePDF–6.2M
3.
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype
Esther Picillo, Maria Elena Onore, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Acta Myol. 2024; 43(1): 21–26. Published online 2024 Feb 21. doi: 10.36185/2532-1900-411
PMCID:
PMC10997040
ArticlePDF–392K
4.
Clinical manifestations and MRI features of Danon disease: a case series
Yang Zhang, Ren Zhao, Yushan Yuan, Yongqiang Yu, Bin Liu, Xiaohu Li
BMC Cardiovasc Disord. 2023; 23: 397. Published online 2023 Aug 11. doi: 10.1186/s12872-023-03356-y
PMCID:
PMC10422726
ArticlePDF–1.3M
5.
Enfermedad de McArdle en cuatro pacientes pediátricos. Algoritmo diagnóstico ante una intolerancia al ejercicio
Ramón Vidal-Sanahuja, Carlos I. Ortez-González, Andrés Nascimento-Osorio, Jaume Colomer-Oferil
Rev Neurol. 2022; 75(6): 129–136. Spanish. Published online 2022 Sep 16. doi: 10.33588/rn.7506.2022212
PMCID:
PMC10280752
ArticlePDF–1.3M
6.
Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center
Kun Huang, Hui-Qian Duan, Qiu-Xiang Li, Yue-Bei Luo, Fang-Fang Bi, Huan Yang
Front Neurol. 2022; 13: 945280. Published online 2022 Aug 11. doi: 10.3389/fneur.2022.945280
PMCID:
PMC9406516
ArticlePDF–717K
7.
McArdle disease in a patient with anorexia nervosa: a case report
Riccardo Dalle Grave, Enrico Patacca, Maddalena Conti, Fabio Soave, Laura Dametti, Anna Dalle Grave, Simona Calugi
Eat Weight Disord. 2022; 27(8): 3793–3796. Published online 2022 Jul 24. doi: 10.1007/s40519-022-01451-1
PMCID:
PMC9308889
ArticlePDF–434K
8.
Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency
Asami Munekane, Yutaka Ohsawa, Tokiko Fukuda, Hirotake Nishimura, Shin-ichiro Nishimatsu, Hideo Sugie, Yoshihiko Saito, Ichizo Nishino, Yoshihide Sunada
Intern Med. 2022 Apr 15; 61(8): 1241–1245. Published online 2021 Oct 5. doi: 10.2169/internalmedicine.8137-21
PMCID:
PMC9107984
ArticlePDF–1002K
9.
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy
Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth
Autophagy. 2022; 18(3): 496–517. Published online 2021 Aug 19. doi: 10.1080/15548627.2021.1943177
PMCID:
PMC9037555
ArticlePDF–2.0M
10.
Application of Patient-Specific iPSCs for Modelling and Treatment of X-Linked Cardiomyopathies
Jennifer Zhang, Oscar Hou-In Chou, Yiu-Lam Tse, Kwong-Man Ng, Hung-Fat Tse
Int J Mol Sci. 2021 Aug; 22(15): 8132. Published online 2021 Jul 29. doi: 10.3390/ijms22158132
PMCID:
PMC8347533
ArticlePDF–3.2M
11.
Danon disease: a case report and literature review
Jiamin Xu, Zhu Li, Yihai Liu, Xinlin Zhang, Fengnan Niu, Hongyan Zheng, Lian Wang, Lina Kang, Kun Wang, Biao Xu
Diagn Pathol. 2021; 16: 39. Published online 2021 May 1. doi: 10.1186/s13000-021-01100-8
PMCID:
PMC8088694
ArticlePDF–1.4M
12.
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX
Samuela A. Fernandes, Gabrielle E. Cooper, Rebecca Anne Gibson, Priya S. Kishnani
Mol Genet Metab. Author manuscript; available in PMC 2021 Mar 12.
Published in final edited form as: Mol Genet Metab. 2020 Nov; 131(3): 299–305. Published online 2020 Oct 10. doi: 10.1016/j.ymgme.2020.10.004
PMCID:
PMC7953588
ArticlePDF–427K
13.
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report
Valeria Novelli, Antonio Bisignani, Gemma Pelargonio, Guido Primiano, Maria Lucia Narducci, Vincenzo Palmieri, Francesco Danilo Tiziano, Paolo Zeppilli, Serenella Servidei, Filippo Crea, Maurizio Genuardi
BMC Cardiovasc Disord. 2020; 20: 156. Published online 2020 Apr 5. doi: 10.1186/s12872-020-01421-4
PMCID:
PMC7132987
ArticlePDF–1.7M
14.
A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein
Nianwei Zhou, Jie Cui, Weipeng Zhao, Yingying Jiang, Wenqing Zhu, Lu Tang, Xuejie Li, Minmin Sun, Cuizhen Pan, Xianhong Shu
Mol Genet Genomic Med. 2019 Mar; 7(3): e561. Published online 2019 Feb 3. doi: 10.1002/mgg3.561
PMCID:
PMC6418376
ArticlePDF–1.0M
15.
A Nationwide Survey on Danon Disease in Japan
Kazuma Sugie, Hirofumi Komaki, Nobuyuki Eura, Tomo Shiota, Kenji Onoue, Hiroyasu Tsukaguchi, Narihiro Minami, Megumu Ogawa, Takao Kiriyama, Hiroshi Kataoka, Yoshihiko Saito, Ikuya Nonaka, Ichizo Nishino
Int J Mol Sci. 2018 Nov; 19(11): 3507. Published online 2018 Nov 8. doi: 10.3390/ijms19113507
PMCID:
PMC6274850
ArticlePDF–2.2M
16.
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States
Hemakumar M. Reddy, Kyung-Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D. Jones, Satomi Mitsuhashi, Basil T. Darras, Anthony A. Amato, Hart G.W. Lidov, Catherine A. Brownstein, David M. Margulies, Timothy W. Yu, Mustafa A. Salih, Louis M. Kunkel, Daniel G. MacArthur, Peter B. Kang
J Hum Genet. Author manuscript; available in PMC 2017 Apr 6.
Published in final edited form as: J Hum Genet. 2017 Feb; 62(2): 243–252. Published online 2016 Oct 6. doi: 10.1038/jhg.2016.116
PMCID:
PMC5266644
ArticlePDF–600K
17.
LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease
Michelle Rothaug, Stijn Stroobants, Michaela Schweizer, Judith Peters, Friederike Zunke, Mirka Allerding, Rudi D’Hooge, Paul Saftig, Judith Blanz
Acta Neuropathol Commun. 2015; 3: 6. Published online 2015 Jan 31. doi: 10.1186/s40478-014-0182-y
PMCID:
PMC4359523
ArticlePDF–2.5M
18.
CLINICAL OUTCOME AND PHENOTYPIC EXPRESSION IN LAMP2 CARDIOMYOPATHY
Barry J. Maron, William C. Roberts, Michael Arad, Tammy S. Haas, Paolo Spirito, Gregory B. Wright, Adrian K. Almquist, Jeanne M. Baffa, J. Philip Saul, Carolyn Y. Ho, Jonathan Seidman, Christine E. Seidman
JAMA. Author manuscript; available in PMC 2014 Jul 22.
Published in final edited form as: JAMA. 2009 Mar 25; 301(12): 1253–1259. doi: 10.1001/jama.2009.371
PMCID:
PMC4106257
ArticlePDF–697K
19.
Asymptomatic Young Man with Danon Disease
Jiwon Kim, Parag Parikh, Mohammad Mahboob, James A. Arrighi, Michael K. Atalay, Ethan J. Rowin, Martin S. Maron
Tex Heart Inst J. 2014 Jun; 41(3): 332–334. Published online 2014 Jun 1. doi: 10.14503/THIJ-13-3279
PMCID:
PMC4060354
ArticlePDF–979K
20.
Dysregulation of Multiple Facets of Glycogen Metabolism in a Murine Model of Pompe Disease
Kristin M. Taylor, Elizabeth Meyers, Michael Phipps, Priya S. Kishnani, Seng H. Cheng, Ronald K. Scheule, Rodney J. Moreland
PLoS One. 2013; 8(2): e56181. Published online 2013 Feb 14. doi: 10.1371/journal.pone.0056181
PMCID:
PMC3572993
ArticlePDF–1.0M

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