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Items: 1 to 20 of 224

1.
Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD)
Daniela Parisi, Olimpia Musumeci, Stefania Mondello, Teresa Brizzi, Rosaria Oteri, Alba Migliorato, Annamaria Ciranni, Tiziana E. Mongini, Carmelo Rodolico, Giuseppe Vita, Antonio Toscano
Front Neurol. 2018; 9: 880. Published online 2018 Oct 22. doi: 10.3389/fneur.2018.00880
PMCID:
PMC6204381
AbstractArticlePDF–839K
2.
Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures
P. Vanherpe, S. Fieuws, A. D’Hondt, C. Bleyenheuft, P. Demaerel, J. De Bleecker, P. Van den Bergh, J. Baets, G. Remiche, K. Verhoeven, S. Delstanche, M. Toussaint, B. Buyse, P. Van Damme, C. E. Depuydt, K. G. Claeys
Orphanet J Rare Dis. 2020; 15: 83. Published online 2020 Apr 5. doi: 10.1186/s13023-020-01353-4
PMCID:
PMC7133011
AbstractArticlePDF–1.1M
3.
Multisystem late onset Pompe disease (LOPD): an update on clinical aspects
Antonio Toscano, Carmelo Rodolico, Olimpia Musumeci
Ann Transl Med. 2019 Jul; 7(13): 284. doi: 10.21037/atm.2019.07.24
PMCID:
PMC6642938
AbstractArticlePDF–1010K
4.
Diagnostic tools in late onset Pompe disease (LOPD)
Olimpia Musumeci, Antonio Toscano
Ann Transl Med. 2019 Jul; 7(13): 286. doi: 10.21037/atm.2019.06.60
PMCID:
PMC6642940
AbstractArticlePDF–1.3M
5.
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease
Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca, Jr, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo
Orphanet J Rare Dis. 2020; 15: 11. Published online 2020 Jan 13. doi: 10.1186/s13023-019-1291-2
PMCID:
PMC6958675
AbstractArticlePDF–739K
6.
The association between HSD3B7 gene variant and Parkinson's disease in ethnic Chinese
Zhong‐Jiao Lu, Ling Wang, Xiao‐Yi Sun, Jun‐Ying Li, Lan Cheng, Nan‐Nan Li, Rong Peng
Brain Behav. 2018 Apr; 8(4): e00913. Published online 2018 Feb 17. doi: 10.1002/brb3.913
PMCID:
PMC5893344
AbstractArticlePDF–322K
7.
Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion
Daniela Marotto, Marta Moschetti, Alessia Lo Curto, Anna M. Spezzigu, Miriam Giacomarra, Emanuela M. Marsana, Carmela Zizzo, Giovanni Duro, Paolo Colomba
Int J Mol Sci. 2023 Nov; 24(21): 15924. Published online 2023 Nov 3. doi: 10.3390/ijms242115924
PMCID:
PMC10649549
AbstractArticlePDF–609K
8.
The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson’s disease
Anne Y.Y. Chan, Larry Baum, Nelson L.S. Tang, Christine Y.K. Lau, Ping Wing Ng, Kwok Fai Hui, Yoshi Mizuno, Justin Y. Kwan, Vincent C.T. Mok, Sheng-Han Kuo
J Clin Neurosci. Author manuscript; available in PMC 2014 Oct 27.
Published in final edited form as: J Clin Neurosci. 2013 May; 20(5): 761–762. Published online 2013 Mar 20. doi: 10.1016/j.jocn.2012.05.052
PMCID:
PMC4209840
AbstractArticlePDF–75K
9.
A Comprehensive Update on Late-Onset Pompe Disease
Beatrice Labella, Stefano Cotti Piccinelli, Barbara Risi, Filomena Caria, Simona Damioli, Enrica Bertella, Loris Poli, Alessandro Padovani, Massimiliano Filosto
Biomolecules. 2023 Sep; 13(9): 1279. Published online 2023 Aug 22. doi: 10.3390/biom13091279
PMCID:
PMC10526932
AbstractArticlePDF–848K
10.
Ubiquitin Proteasome System in Parkinson Disease: a keeper or a witness?
Diogo Martins-Branco, Ana R. Esteves, Daniel Santos, Daniela M. Arduino, Russell H. Swerdlow, Catarina R. Oliveira, Cristina Januario, Sandra M. Cardoso
Exp Neurol. Author manuscript; available in PMC 2014 Jul 1.
Published in final edited form as: Exp Neurol. 2012 Dec; 238(2): 89–99. Published online 2012 Aug 19. doi: 10.1016/j.expneurol.2012.08.008
PMCID:
PMC4077023
AbstractArticlePDF–1.0M
11.
Phase I study of liver depot gene therapy in late-onset Pompe disease
Edward C. Smith, Sam Hopkins, Laura E. Case, Ming Xu, Crista Walters, Stephanie Dearmey, Sang-oh Han, Tracy G. Spears, Jessica A. Chichester, Edward H. Bossen, Christoph P. Hornik, Jennifer L. Cohen, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl
Mol Ther. 2023 Jul 5; 31(7): 1994–2004. Published online 2023 Feb 18. doi: 10.1016/j.ymthe.2023.02.014
PMCID:
PMC10362382
AbstractArticlePDF–2.6M
12.
Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos
Luz M. Sánchez-Sánchez, Valentina Martínez-Montoya, Roberto Sandoval-Pacheco, Benjamín Torres-Octavo, Diana M. Anaya-Castro, Ofelia Padilla-de la Torre, Carmen A. Arellano-Valdez, Carmen A. Ávila-Rejón, Pedro A. Aguilar-Juárez, Martín Espino-Pluma, Antonio González-Santillanes Cruz, Ekaterina Kazakova, Rosa I. Martinez-Segovia, Dorian Olmos-Morfin, Pablo F. Radillo-Díaz, Ishar Solís-Sánchez, Mónica Vázquez Del Mercado-Espinosa, Camilo E. Villarroel-Cortés, Jesús S. Velarde-Félix
Rev Neurol. 2022; 75(5): 103–108. Spanish. Published online 2022 Sep 1. doi: 10.33588/rn.7505.2022227
PMCID:
PMC10280748
AbstractArticlePDF–812K
13.
Characteristics of Pompe disease in China: a report from the Pompe registry
Yuying Zhao, Zhaoxia Wang, Jiahong Lu, Xuefan Gu, Yonglan Huang, Zhengqing Qiu, Yanping Wei, Chuanzhu Yan
Orphanet J Rare Dis. 2019; 14: 78. Published online 2019 Apr 3. doi: 10.1186/s13023-019-1054-0
PMCID:
PMC6448270
AbstractArticlePDF–893K
14.
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families
Filomena Napolitano, Giorgia Bruno, Chiara Terracciano, Giuseppina Franzese, Nicole Piera Palomba, Federica Scotto di Carlo, Elisabetta Signoriello, Paolo De Blasiis, Stefano Navarro, Alessandro Gialluisi, Mariarosa Anna Beatrice Melone, Simone Sampaolo, Teresa Esposito
Int J Mol Sci. 2021 Apr; 22(7): 3625. Published online 2021 Mar 31. doi: 10.3390/ijms22073625
PMCID:
PMC8036926
AbstractArticlePDF–9.2M
15.
Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32–13 T > G variant
Mrudu Herbert, Laura E. Case, Mugdha Rairikar, Heidi Cope, Lauren Bailey, Stephanie L. Austin, Priya S. Kishnani
Mol Genet Metab. Author manuscript; available in PMC 2022 Jul 25.
Published in final edited form as: Mol Genet Metab. 2019 Feb; 126(2): 106–116. Published online 2018 Aug 23. doi: 10.1016/j.ymgme.2018.08.009
PMCID:
PMC9310053
AbstractArticlePDF–458K
16.
Association of ATG5 gene polymorphism with Parkinson’s disease in a Han Chinese population
Jing Han, Ganghua Feng, Jibao Wu, Yi Zhang, Zhipeng Long, Xiaoxi Yao
Acta Neurol Belg. 2022; 122(4): 1049–1056. Published online 2021 Oct 18. doi: 10.1007/s13760-021-01814-y
PMCID:
PMC9300489
AbstractArticlePDF–680K
17.
Analysis of EIF4G1 in ethnic Chinese
Kai Li, Bei-sha Tang, Ji-feng Guo, Ming-xing Lou, Zhan-yun Lv, Zhen-hua Liu, Yun Tian, Cheng-yuan Song, Kun Xia, Xin-xiang Yan
BMC Neurol. 2013; 13: 38. Published online 2013 Apr 26. doi: 10.1186/1471-2377-13-38
PMCID:
PMC3663786
AbstractArticlePDF–165K
18.
Glucocerebrosidase L444P mutation confers genetic risk for Parkinson’s disease in central China
Youpei Wang, Ling Liu, Jing Xiong, Xiaowei Zhang, Zhenzhen Chen, Lan Yu, Chunnuan Chen, Jinsha Huang, Zhentao Zhang, Asrah A Mohmed, Zhicheng Lin, Nian Xiong, Tao Wang
Behav Brain Funct. 2012; 8: 57. Published online 2012 Dec 10. doi: 10.1186/1744-9081-8-57
PMCID:
PMC3538614
AbstractArticlePDF–169K
19.
Current status of newborn screening for Pompe disease in Japan
Takaaki Sawada, Jun Kido, Keishin Sugawara, Ken Momosaki, Shinichiro Yoshida, Kanako Kojima-Ishii, Takahito Inoue, Shirou Matsumoto, Fumio Endo, Shouichi Ohga, Shinichi Hirose, Kimitoshi Nakamura
Orphanet J Rare Dis. 2021; 16: 516. Published online 2021 Dec 18. doi: 10.1186/s13023-021-02146-z
PMCID:
PMC8684119
AbstractArticlePDF–1.0M
20.
Screening non-MAPT genes of the Chr17q21 H1 haplotype in Parkinson’s disease
Alexandra I. Soto-Beasley, Ronald L. Walton, Rebecca R. Valentino, Paul W. Hook, Catherine Labbé, Michael G. Heckman, Patrick W. Johnson, Loyal A. Goff, Ryan J. Uitti, Pamela J. McLean, Wolfdieter Springer, Andrew S. McCallion, Zbigniew K. Wszolek, Owen A. Ross
Parkinsonism Relat Disord. Author manuscript; available in PMC 2021 Sep 1.
Published in final edited form as: Parkinsonism Relat Disord. 2020 Sep; 78: 138–144. Published online 2020 Aug 1. doi: 10.1016/j.parkreldis.2020.07.022
PMCID:
PMC7686230
AbstractArticlePDF–759K

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