PubMed (OMIM) for id: 65055

Year	Number of Results
2004	1
2006	3
2008	2
2009	1
2011	1
2012	1
2013	2
2014	1
2015	2
2016	1
2019	2
2021	1
2024	0

1

Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.

Kanwal S, Choi YJ, Lim SO, Choi HJ, Park JH, Nuzhat R, Khan A, Perveen S, Choi BO, Chung KW. Kanwal S, et al. BMC Med Genomics. 2021 Jun 30;14(1):174. doi: 10.1186/s12920-021-01019-5. BMC Med Genomics. 2021. PMID: 34193129 Free PMC article.

2

Further supporting evidence for REEP1 phenotypic and allelic heterogeneity.

Maroofian R, Behnam M, Kaiyrzhanov R, Salpietro V, Salehi M, Houlden H. Maroofian R, et al. Neurol Genet. 2019 Nov 15;5(6):e379. doi: 10.1212/NXG.0000000000000379. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 31872057 Free PMC article. No abstract available.

3

Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.

Toft A, Birk S, Ballegaard M, Dunø M, Hjermind LE, Nielsen JE, Svenstrup K. Toft A, et al. J Neurol. 2019 Mar;266(3):735-744. doi: 10.1007/s00415-019-09196-1. Epub 2019 Jan 12. J Neurol. 2019. PMID: 30637453

4

Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.

Renvoisé B, Malone B, Falgairolle M, Munasinghe J, Stadler J, Sibilla C, Park SH, Blackstone C. Renvoisé B, et al. Hum Mol Genet. 2016 Dec 1;25(23):5111-5125. doi: 10.1093/hmg/ddw315. Hum Mol Genet. 2016. PMID: 27638887 Free PMC article.

5

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.

Schottmann G, Seelow D, Seifert F, Morales-Gonzalez S, Gill E, von Au K, von Moers A, Stenzel W, Schuelke M. Schottmann G, et al. Neurol Genet. 2015 Oct 22;1(4):e32. doi: 10.1212/NXG.0000000000000032. eCollection 2015 Dec. Neurol Genet. 2015. PMID: 27066569 Free PMC article.

6

Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.

Lim Y, Cho IT, Schoel LJ, Cho G, Golden JA. Lim Y, et al. Ann Neurol. 2015 Nov;78(5):679-96. doi: 10.1002/ana.24488. Epub 2015 Sep 16. Ann Neurol. 2015. PMID: 26201691 Free PMC article.

7

REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues.

Hurt CM, Björk S, Ho VK, Gilsbach R, Hein L, Angelotti T. Hurt CM, et al. Brain Res. 2014 Jan 30;1545:12-22. doi: 10.1016/j.brainres.2013.12.008. Epub 2013 Dec 16. Brain Res. 2014. PMID: 24355597 Free PMC article.

8

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

Beetz C, Koch N, Khundadze M, Zimmer G, Nietzsche S, Hertel N, Huebner AK, Mumtaz R, Schweizer M, Dirren E, Karle KN, Irintchev A, Alvarez V, Redies C, Westermann M, Kurth I, Deufel T, Kessels MM, Qualmann B, Hübner CA. Beetz C, et al. J Clin Invest. 2013 Oct;123(10):4273-82. doi: 10.1172/JCI65665. Epub 2013 Sep 24. J Clin Invest. 2013. PMID: 24051375 Free PMC article.

9

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

Beetz C, Pieber TR, Hertel N, Schabhüttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M. Beetz C, et al. Am J Hum Genet. 2012 Jul 13;91(1):139-45. doi: 10.1016/j.ajhg.2012.05.007. Epub 2012 Jun 14. Am J Hum Genet. 2012. PMID: 22703882 Free PMC article.

10

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Solé G, Coupry I, Pilliod J, Martin-Négrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, Pinel JF, Ouvrard-Hernandez AM, Lyonnet S, Ollagnon-Roman E, Yaouanq J, Toutain A, Dussert C, Fontaine B, Leguern E, Lacombe D, Durr A, Rossignol R, Brice A, Stevanin G. Goizet C, et al. Hum Mutat. 2011 Oct;32(10):1118-27. doi: 10.1002/humu.21542. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21618648

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