Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease

By Rhein Cosima   Mühle Christiane   Kornhuber Johannes   Reichel Martin  

International Journal of Molecular Sciences, Vol. 16, Iss. 6, 2015-06 ,pp. : 13649-13652

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Niemann-Pick C1 (NPC1)/NPC1-like1 Chimeras Define Sequences Critical for NPC1’s Function as a Filovirus Entry Receptor

By Krishnan Anuja   Miller Emily Happy   Herbert Andrew S.   Ng Melinda   Ndungo Esther   Whelan Sean P.   Dye John M.   Chandran Kartik  

Viruses, Vol. 4, Iss. 11, 2012-10 ,pp. : 2471-2484

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Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1

By Lau Meghann W.   Lee Ryan W.   Miyamoto Robin   Jung Eun Sol   Yanjanin Farhat Nicole   Yoshida Shoko   Mori Susumu   Gropman Andrea   Baker Eva H.   Porter Forbes D.  

Diseases, Vol. 4, Iss. 3, 2016-09 ,pp. : 29-29

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Increased Regenerative Capacity of the Olfactory Epithelium in Niemann–Pick Disease Type C1

By Meyer Anja   Wree Andreas   Günther René   Holzmann Carsten   Schmitt Oliver   Rolfs Arndt   Witt Martin  

International Journal of Molecular Sciences, Vol. 18, Iss. 4, 2017-04 ,pp. : 777-777

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Four Novel p.N385K, p.V36A, c.1033–1034insT and c.1417–1418delCT Mutations in the Sphingomyelin Phosphodiesterase 1 (SMPD1) Gene in Patients with Types A and B Niemann-Pick Disease (NPD)

By Manshadi Masoumeh Dehghan   Kamalidehghan Behnam   Keshavarzi Fatemeh   Aryani Omid   Dadgar Sepideh   Arastehkani Ahoora   Tondar Mahdi   Ahmadipour Fatemeh   Meng Goh Yong   Houshmand Massoud  

International Journal of Molecular Sciences, Vol. 16, Iss. 4, 2015-03 ,pp. : 6668-6676

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