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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 3
1997 3
2000 1
2003 1
2017 1
2020 1
2023 3
2024 2

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PubMed for id: 255652944

10 results

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Page 1
Familial Alzheimer's disease associated with heterozygous NPC1 mutation.
Lopergolo D, Bianchi S, Gallus GN, Locci S, Pucci B, Leoni V, Gasparini D, Tardelli E, Chincarini A, Sestini S, Santorelli FM, Zetterberg H, De Stefano N, Mignarri A. Lopergolo D, et al. J Med Genet. 2024 Mar 21;61(4):332-339. doi: 10.1136/jmg-2023-109219. J Med Genet. 2024. PMID: 37989569
Niemann-Pick Disease Type C.
Patterson M. Patterson M. 2000 Jan 26 [updated 2020 Dec 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Jan 26 [updated 2020 Dec 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301473 Free Books & Documents. Review.
Hereditary Dystonia Overview.
Klein C, Lohmann K, Marras C, Münchau A. Klein C, et al. 2003 Oct 28 [updated 2017 Jun 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Oct 28 [updated 2017 Jun 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301334 Free Books & Documents. Review.
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang TY, Liscum L, Strauss JF 3rd, Ohno K, Zeigler M, Carmi R, Sokol J, Markie D, O'Neill RR, van Diggelen OP, Elleder M, Patterson MC, Brady RO, Vanier MT, Pentchev PG, Tagle DA. Carstea ED, et al. Science. 1997 Jul 11;277(5323):228-31. doi: 10.1126/science.277.5323.228. Science. 1997. PMID: 9211849
Linkage of Niemann-Pick disease type C to human chromosome 18.
Carstea ED, Polymeropoulos MH, Parker CC, Detera-Wadleigh SD, O'Neill RR, Patterson MC, Goldin E, Xiao H, Straub RE, Vanier MT, et al. Carstea ED, et al. Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):2002-4. doi: 10.1073/pnas.90.5.2002. Proc Natl Acad Sci U S A. 1993. PMID: 8446622 Free PMC article.