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

Year Number of Results
1993 2
1999 1
2001 2
2003 1
2007 2
2013 1
2017 1
2021 1
2022 3
2024 0

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PubMed for id: 1706865935

10 results

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Page 1
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Poncet AF, Grunewald O, Vaclavik V, Meunier I, Drumare I, Pelletier V, Bocquet B, Todorova MG, Le Moing AG, Devos A, Schorderet DF, Jobic F, Defoort-Dhellemmes S, Dollfus H, Smirnov VM, Dhaenens CM. Poncet AF, et al. Int J Mol Sci. 2022 Apr 13;23(8):4294. doi: 10.3390/ijms23084294. Int J Mol Sci. 2022. PMID: 35457110 Free PMC article.
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.
Lopez-Fabuel I, Garcia-Macia M, Buondelmonte C, Burmistrova O, Bonora N, Alonso-Batan P, Morant-Ferrando B, Vicente-Gutierrez C, Jimenez-Blasco D, Quintana-Cabrera R, Fernandez E, Llop J, Ramos-Cabrer P, Sharaireh A, Guevara-Ferrer M, Fitzpatrick L, Thompton CD, McKay TR, Storch S, Medina DL, Mole SE, Fedichev PO, Almeida A, Bolaños JP. Lopez-Fabuel I, et al. Nat Commun. 2022 Jan 27;13(1):536. doi: 10.1038/s41467-022-28191-1. Nat Commun. 2022. PMID: 35087090 Free PMC article.
Neuronal Ceroid-Lipofuscinoses – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Mole SE, Williams RE. Mole SE, et al. 2001 Oct 10 [updated 2013 Aug 1]. 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. 2001 Oct 10 [updated 2013 Aug 1]. 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: 20301601 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.
Integral and associated lysosomal membrane proteins.
Schröder B, Wrocklage C, Pan C, Jäger R, Kösters B, Schäfer H, Elsässer HP, Mann M, Hasilik A. Schröder B, et al. Traffic. 2007 Dec;8(12):1676-1686. doi: 10.1111/j.1600-0854.2007.00643.x. Epub 2007 Sep 26. Traffic. 2007. PMID: 17897319 Free article.