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

Year Number of Results
1993 2
2000 1
2010 1
2012 1
2013 1
2014 1
2015 1
2020 1
2021 4
2022 2
2024 0

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PubMed for id: 289547515

10 results

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Page 1
TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability.
Heimer G, Neuser S, Ben-Zeev B, Ebrahimi-Fakhari D. Heimer G, et al. 2022 Sep 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. 2022 Sep 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: 36137062 Free Books & Documents. Review.
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Neuser S, et al. Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11. Hum Mutat. 2021. PMID: 33847017
Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2.
Fraiberg M, Tamim-Yecheskel BC, Kokabi K, Subic N, Heimer G, Eck F, Nalbach K, Behrends C, Ben-Zeev B, Shatz O, Elazar Z. Fraiberg M, et al. Autophagy. 2021 Oct;17(10):3096-3108. doi: 10.1080/15548627.2020.1852727. Epub 2020 Nov 29. Autophagy. 2021. PMID: 33213269 Free PMC article.
TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export.
Stadel D, Millarte V, Tillmann KD, Huber J, Tamin-Yecheskel BC, Akutsu M, Demishtein A, Ben-Zeev B, Anikster Y, Perez F, Dötsch V, Elazar Z, Rogov V, Farhan H, Behrends C. Stadel D, et al. Mol Cell. 2015 Oct 1;60(1):89-104. doi: 10.1016/j.molcel.2015.09.010. Mol Cell. 2015. PMID: 26431026 Free article.
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.
Kuiper JJ, Van Setten J, Ripke S, Van 'T Slot R, Mulder F, Missotten T, Baarsma GS, Francioli LC, Pulit SL, De Kovel CG, Ten Dam-Van Loon N, Den Hollander AI, Huis in het Veld P, Hoyng CB, Cordero-Coma M, Martín J, Llorenç V, Arya B, Thomas D, Bakker SC, Ophoff RA, Rothova A, De Bakker PI, Mutis T, Koeleman BP. Kuiper JJ, et al. Hum Mol Genet. 2014 Nov 15;23(22):6081-7. doi: 10.1093/hmg/ddu307. Epub 2014 Jun 22. Hum Mol Genet. 2014. PMID: 24957906 Free PMC article.
TECPR2: a new autophagy link for neurodegeneration.
Oz-Levi D, Gelman A, Elazar Z, Lancet D. Oz-Levi D, et al. Autophagy. 2013 May;9(5):801-2. doi: 10.4161/auto.23961. Epub 2013 Feb 25. Autophagy. 2013. PMID: 23439247 Free PMC article.
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D. Oz-Levi D, et al. Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176824 Free PMC article.
Network organization of the human autophagy system.
Behrends C, Sowa ME, Gygi SP, Harper JW. Behrends C, et al. Nature. 2010 Jul 1;466(7302):68-76. doi: 10.1038/nature09204. Epub 2010 Jun 20. Nature. 2010. PMID: 20562859 Free PMC article.
Hereditary Spastic Paraplegia Overview.
Hedera P. Hedera P. 2000 Aug 15 [updated 2021 Feb 11]. 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 Aug 15 [updated 2021 Feb 11]. 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: 20301682 Free Books & Documents. Review.