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Items: 13

1.

Insights into the genotype-phenotype correlation and molecular function of SLC25A46.

Abrams AJ, Fontanesi F, Tan NBL, Buglo E, Campeanu IJ, Rebelo AP, Kornberg AJ, Phelan DG, Stark Z, Zuchner S.

Hum Mutat. 2018 Sep 3. doi: 10.1002/humu.23639. [Epub ahead of print]

PMID:
30178502
2.

The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport.

Maciel R, Bis DM, Rebelo AP, Saghira C, Züchner S, Saporta MA.

Exp Neurol. 2018 Sep;307:155-163. doi: 10.1016/j.expneurol.2018.06.008. Epub 2018 Jun 20.

PMID:
29935168
3.

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S.

Am J Hum Genet. 2018 Mar 1;102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023.

4.

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.

Rebelo AP, Saade D, Pereira CV, Farooq A, Huff TC, Abreu L, Moraes CT, Mnatsakanova D, Mathews K, Yang H, Schon EA, Zuchner S, Shy ME.

Brain. 2018 Mar 1;141(3):662-672. doi: 10.1093/brain/awx369.

PMID:
29351582
5.

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.

Shy M, Rebelo AP, Feely SM, Abreu LA, Tao F, Swenson A, Bacon C, Zuchner S.

J Neurol Neurosurg Psychiatry. 2018 Mar;89(3):313-315. doi: 10.1136/jnnp-2017-315929. Epub 2017 Jul 28. No abstract available.

6.

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.

Manganelli F, Parisi S, Nolano M, Tao F, Paladino S, Pisciotta C, Tozza S, Nesti C, Rebelo AP, Provitera V, Santorelli FM, Shy ME, Russo T, Zuchner S, Santoro L.

Neurology. 2017 May 30;88(22):2132-2140. doi: 10.1212/WNL.0000000000003992. Epub 2017 May 3.

7.

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.

Rebelo AP, Abrams AJ, Cottenie E, Horga A, Gonzalez M, Bis DM, Sanchez-Mejias A, Pinto M, Buglo E, Markel K, Prince J, Laura M, Houlden H, Blake J, Woodward C, Sweeney MG, Holton JL, Hanna M, Dallman JE, Auer-Grumbach M, Reilly MM, Zuchner S.

Am J Hum Genet. 2016 Apr 7;98(4):597-614. doi: 10.1016/j.ajhg.2016.02.022. Epub 2016 Mar 31.

8.

Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model.

Strickland AV, Rebelo AP, Zhang F, Price J, Bolon B, Silva JP, Wen R, Züchner S.

J Peripher Nerv Syst. 2014 Jun;19(2):152-64. doi: 10.1111/jns5.12066.

PMID:
24862862
9.

Motor protein mutations cause a new form of hereditary spastic paraplegia.

Caballero Oteyza A, Battaloğlu E, Ocek L, Lindig T, Reichbauer J, Rebelo AP, Gonzalez MA, Zorlu Y, Ozes B, Timmann D, Bender B, Woehlke G, Züchner S, Schöls L, Schüle R.

Neurology. 2014 Jun 3;82(22):2007-16. doi: 10.1212/WNL.0000000000000479. Epub 2014 May 7.

10.

The role of PGC-1 coactivators in aging skeletal muscle and heart.

Dillon LM, Rebelo AP, Moraes CT.

IUBMB Life. 2012 Mar;64(3):231-41. doi: 10.1002/iub.608. Epub 2012 Jan 25. Review.

11.

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.

Montenegro G, Rebelo AP, Connell J, Allison R, Babalini C, D'Aloia M, Montieri P, Schüle R, Ishiura H, Price J, Strickland A, Gonzalez MA, Baumbach-Reardon L, Deconinck T, Huang J, Bernardi G, Vance JM, Rogers MT, Tsuji S, De Jonghe P, Pericak-Vance MA, Schöls L, Orlacchio A, Reid E, Züchner S.

J Clin Invest. 2012 Feb;122(2):538-44. doi: 10.1172/JCI60560. Epub 2012 Jan 9.

12.

Mitochondrial DNA transcription regulation and nucleoid organization.

Rebelo AP, Dillon LM, Moraes CT.

J Inherit Metab Dis. 2011 Aug;34(4):941-51. doi: 10.1007/s10545-011-9330-8. Epub 2011 May 4. Review.

PMID:
21541724
13.

In vivo methylation of mtDNA reveals the dynamics of protein-mtDNA interactions.

Rebelo AP, Williams SL, Moraes CT.

Nucleic Acids Res. 2009 Nov;37(20):6701-15. doi: 10.1093/nar/gkp727. Epub 2009 Sep 9.

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