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Items: 1 to 20 of 97

1.
Sergio Muñoz, Joan Bertolin, Veronica Jimenez, Maria Luisa Jaén, Miquel Garcia, Anna Pujol, Laia Vilà, Victor Sacristan, Elena Barbon, Giuseppe Ronzitti, Jihad El Andari, Warut Tulalamba, Quang Hong Pham, Jesus Ruberte, Thierry VandenDriessche, Marinee K. Chuah, Dirk Grimm, Federico Mingozzi, Fatima Bosch
Mol Metab. 2024 Mar; 81: 101899. Published online 2024 Feb 10. doi: 10.1016/j.molmet.2024.101899
PMCID:
PMC10877955
2.
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
3.
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
4.
Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Huey-Yin Leong, Hui-Bein Chew, Jeya Bawani Sivabalakrishnan, Lock-Hock Ngu
Orphanet J Rare Dis. 2023; 18: 231. Published online 2023 Aug 4. doi: 10.1186/s13023-023-02848-6
PMCID:
PMC10403872
5.
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
6.
Rodrigo Canibano‐Fraile, Laurike Harlaar, Carlos A. dos Santos, Marianne Hoogeveen‐Westerveld, Jeroen A. A. Demmers, Tim Snijders, Philip Lijnzaad, Robert M. Verdijk, Nadine A. M. E. van der Beek, Pieter A. van Doorn, Ans T. van der Ploeg, Esther Brusse, W. W. M. Pim Pijnappel, Gerben J. Schaaf
J Inherit Metab Dis. 2023 Jan; 46(1): 101–115. Published online 2022 Oct 17. doi: 10.1002/jimd.12560
PMCID:
PMC10092494
7.
Shih-hsin Kan, Jeffrey Y. Huang, Jerry Harb, Allisandra Rha, Nancy D. Dalton, Chloe Christensen, Yunghang Chan, Jeremy Davis-Turak, Jonathan Neumann, Raymond Y. Wang
Sci Rep. 2022; 12: 21576. Published online 2022 Dec 14. doi: 10.1038/s41598-022-25914-8
PMCID:
PMC9751086
8.
Hongmin Xi, Xianghong Li, Lili Ma, Xiangyun Yin, Ping Yang, Lulu Zhang
Ital J Pediatr. 2022; 48: 187. Published online 2022 Nov 21. doi: 10.1186/s13052-022-01379-3
PMCID:
PMC9677902
9.
Anthony Tucker-Bartley, Jordan Lemme, Andrea Gomez-Morad, Nehal Shah, Miranda Veliu, Frank Birklein, Claudia Storz, Seward Rutkove, David Kronn, Alison M. Boyce, Eduard Kraft, Jaymin Upadhyay
Neurosci Biobehav Rev.
Published in final edited form as: Neurosci Biobehav Rev. 2021 May; 124: 267–290. Published online 2021 Feb 10. doi: 10.1016/j.neubiorev.2021.02.009
PMCID:
PMC9521731
10.
Mrudu Herbert, Laura E. Case, Mugdha Rairikar, Heidi Cope, Lauren Bailey, Stephanie L. Austin, Priya S. Kishnani
Mol Genet Metab.
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
11.
Monica Y. Niño, Stijn L. M. in't Groen, Douglas O. S. de Faria, Marianne Hoogeveen‐Westerveld, Hannerieke J. M. P. van den Hout, Ans T. van der Ploeg, Atze J. Bergsma, W. W. M. Pim Pijnappel
Hum Mutat. 2021 Nov; 42(11): 1461–1472. Published online 2021 Sep 8. doi: 10.1002/humu.24272
PMCID:
PMC9292902
12.
Magdalena Cerón‐Rodríguez, Daniela Castillo‐García, Carlos‐Patricio Acosta‐Rodríguez‐Bueno, Jesús Aguirre‐Hernández, Juan‐Rafael Murillo‐Eliosa, Pedro Valencia‐Mayoral, Argelia Escobar‐Sánchez, Juan‐Luis Salgado‐Loza
Mol Genet Genomic Med. 2022 Jul; 10(7): e1957. Published online 2022 May 9. doi: 10.1002/mgg3.1957
PMCID:
PMC9266604
13.
Udara Dilrukshi Senarathne, Eresha Jasinge, Sarojini Viknarajah Mohan, Samantha Waidyanatha
BMJ Case Rep. 2022; 15(3): e247312. Published online 2022 Mar 9. doi: 10.1136/bcr-2021-247312
PMCID:
PMC8915381
14.
Marisa E. Schwab, Julia E. H. Brown, Billie Lianoglou, Chengshi Jin, Patricia C. Conroy, Renata C. Gallagher, Paul Harmatz, Tippi C. MacKenzie
Orphanet J Rare Dis. 2022; 17: 25. Published online 2022 Jan 29. doi: 10.1186/s13023-022-02178-z
PMCID:
PMC8800365
15.
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
16.
Barbara Iadarola, Denise Lavezzari, Alessandra Modi, Chiara Degli Esposti, Cristina Beltrami, Marzia Rossato, Valentina Zaro, Ettore Napione, Leonardo Latella, Martina Lari, David Caramelli, Alessandro Salviati, Massimo Delledonne
Sci Rep. 2021; 11: 21070. Published online 2021 Oct 26. doi: 10.1038/s41598-021-00559-1
PMCID:
PMC8548527
17.
James E. Davison
J Mother Child. 2020 Nov; 24(2): 3–8. Published online 2020 Oct 2. doi: 10.34763/jmotherandchild.20202402si.2001.000002
PMCID:
PMC8518093
18.
Igor Bychkov, Galina Baydakova, Alexandra Filatova, Ochir Migiaev, Andrey Marakhonov, Nataliya Pechatnikova, Ekaterina Pomerantseva, Fedor Konovalov, Maria Ampleeva, Vladimir Kaimonov, Mikhail Skoblov, Ekaterina Zakharova
Int J Mol Sci. 2021 Oct; 22(19): 10887. Published online 2021 Oct 8. doi: 10.3390/ijms221910887
PMCID:
PMC8509548
19.
Anne S. De Groot, Ankit K. Desai, Sandra Lelias, S. M. Shahjahan Miah, Frances E. Terry, Sundos Khan, Cindy Li, John S. Yi, Matt Ardito, William D. Martin, Priya S. Kishnani
Front Immunol. 2021; 12: 636731. Published online 2021 Jun 16. doi: 10.3389/fimmu.2021.636731
PMCID:
PMC8242953
20.
Priya S. Kishnani, James B. Gibson, Michael J. Gambello, Richard Hillman, David W. Stockton, David Kronn, Nancy D. Leslie, Loren D. M. Pena, Pranoot Tanpaiboon, John W. Day, Raymond Y. Wang, Jennifer L. Goldstein, Kristina An Haack, Susan E. Sparks, Yang Zhao, Si Houn Hahn, on behalf of the Pompe ADVANCE Study Consortium
Genet Med. 2019; 21(11): 2543–2551. Published online 2019 May 14. doi: 10.1038/s41436-019-0527-9
PMCID:
PMC8076035

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