Zobrazeno 1 - 10
of 35
pro vyhledávání: '"NPC1 gene variants"'
Autor:
Hedyeh Saneifard, Marjan Shakiba, Mohammadreza Alaei, Asieh Mosallanejad, Shirin Ghanefard, Mehrdad Yasaei, Kimia Karimi Toudeshki
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101124- (2024)
Niemann Pick Type C disease is a rare and progressive neurodegenerative lysosomal storage disorder caused by autosomal recessive mutations in the NPC1 and NPC2 genes. It is characterized by the accumulation of multiple lipid species in the endolysoso
Externí odkaz:
https://doaj.org/article/d77ce205b35a4fb19f0cb8bf467c1076
Akademický článek
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Akademický článek
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Autor:
Neissi, Mostafa1,2,3 iammostafaneissi@gmail.com, Al-Badran, Adnan Issa4, Mohammadi-Asl, Misagh3, Al-Badran, Raed Abdulelah5 raedalbadran98@gmail.com, Sheikh-Hosseini, Motahareh3,6, Roghani, Mojdeh3, Mohammadi-Asl, Javad3,7
Publikováno v:
Journal of Rare Diseases. 7/8/2024, Vol. 3 Issue 1, p1-9. 9p.
Autor:
Tao, Chaoxin1 (AUTHOR), Zhao, Min2 (AUTHOR), Zhang, Xiaohui1 (AUTHOR), Hao, Jihong3 (AUTHOR), Huo, Qiuyue2 (AUTHOR), Sun, Jie4 (AUTHOR), Xing, Jiangtao1 (AUTHOR), Zhang, Yuna1 (AUTHOR), Zhao, Jianhong2 (AUTHOR) zhaojh_2002@hebmu.edu.cn, Huang, Huaipeng1 (AUTHOR) huang71526@163.com
Publikováno v:
BMC Infectious Diseases. 1/30/2024, Vol. 24 Issue 1, p1-8. 8p.
Autor:
Feng, Xiao1 (AUTHOR) xiao.feng@uni-rostock.de, Cozma, Claudia2 (AUTHOR) claudia.cozma@centogene.com, Pantoom, Supansa1 (AUTHOR) supansa.pantoom@med.uni-rostock.de, Hund, Christina1 (AUTHOR) christina.hund@med.uni-rostock.de, Iwanov, Katharina1 (AUTHOR) katharina.iwanov@med.uni-rostock.de, Petters, Janine1 (AUTHOR) janine.petters@med.uni-rostock.de, Völkner, Christin1 (AUTHOR) christin.voelkner@med.uni-rostock.de, Bauer, Claudia2 (AUTHOR) claudia.bauer@centogene.com, Vogel, Florian2 (AUTHOR) florian.vogel@centogene.com, Bauer, Peter2 (AUTHOR) peter.bauer@centogene.com, Weiss, Frank U.3 (AUTHOR) ulrich.weiss@uni-greifswald.de, Lerch, Markus M.3 (AUTHOR) Markus.Lerch@med.uni-greifswald.de, Knospe, Anne-Marie1 (AUTHOR) anne.knospe@neuroproof.com, Hermann, Andreas1,4,5 (AUTHOR) andreas.hermann@med.uni-rostock.de, Frech, Moritz J.1 (AUTHOR) moritz.frech@med.uni-rostock.de, Luo, Jiankai1 (AUTHOR) jiankai.luo@med.uni-rostock.de, Rolfs, Arndt2 (AUTHOR) arndt.rolfs@centogene.com, Lukas, Jan1,4 (AUTHOR) jan.lukas@med.uni-rostock.de
Publikováno v:
International Journal of Molecular Sciences. Oct2019, Vol. 20 Issue 20, p5185. 1p.
Autor:
Bolton, Shaun C.1 (AUTHOR) shaun.bolton@uhb.nhs.uk, Soran, Vina2 (AUTHOR), Marfa, Mercedes Pineda3 (AUTHOR), Imrie, Jackie4 (AUTHOR), Gissen, Paul5 (AUTHOR), Jahnova, Helena6 (AUTHOR), Sharma, Reena7 (AUTHOR), Jones, Simon8 (AUTHOR), Santra, Saikat9 (AUTHOR), Crushell, Ellen10 (AUTHOR), Stampfer, Miriam11 (AUTHOR), Coll, Maria Jose12 (AUTHOR), Dawson, Charlotte1 (AUTHOR), Mathieson, Toni4 (AUTHOR), Green, James4 (AUTHOR), Dardis, Andrea13 (AUTHOR), Bembi, Bruno13 (AUTHOR), Patterson, Marc C.14 (AUTHOR), Vanier, Marie T.15,16 (AUTHOR), Geberhiwot, Tarekegn1 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 2/14/2022, Vol. 17 Issue 1, p1-10. 10p.
Autor:
Abtahi, Rezvan1 (AUTHOR), Karimzadeh, Parvaneh2 (AUTHOR), Aryani, Omid3 (AUTHOR), Akbarzadeh, Diba4 (AUTHOR), Salehpour, Shadab5 (AUTHOR), Rezayi, Alireza6 (AUTHOR), Tonekaboni, Seyed Hassan2 (AUTHOR), Emameh, Reza Zolfaghari7 (AUTHOR), Houshmand, Massoud1,8 (AUTHOR) housh62@yahoo.com
Publikováno v:
Hereditas. 1/27/2022, Vol. 159 Issue 1, p1-11. 11p.
Autor:
Las Heras, Macarena, Szenfeld, Benjamín, Ballout, Rami A., Buratti, Emanuele, Zanlungo, Silvana, Dardis, Andrea, Klein, Andrés D.
Publikováno v:
NPJ Genomic Medicine; 11/20/2023, Vol. 8 Issue 1, p1-13, 13p
Autor:
Costanzo, Maria Cristina1 (AUTHOR), Nicotera, Antonio Gennaro1,2 (AUTHOR) antonionicotera@ymail.com, Vinci, Mirella1 (AUTHOR), Vitello, Aurelio1 (AUTHOR), Fiumara, Agata3 (AUTHOR), Calì, Francesco1 (AUTHOR), Musumeci, Sebastiano Antonino1 (AUTHOR)
Publikováno v:
Journal of Genetics. 2020, Vol. 99 Issue 1, p1-14. 14p.