Brunel-Guitton C - Search Results

1

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.

Perrier S, Gauquelin L, Tétreault M, Tran LT, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C; Care4Rare Canada Consortium; Vanderver A, Bernard G. Perrier S, et al. Clin Genet. 2018 Feb;93(2):396-400. doi: 10.1111/cge.13126. Epub 2017 Dec 21. Clin Genet. 2018. PMID: 28857146

2

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J, Ellazam B, Webb N, Antonicka H, Janer A, Brunel-Guitton C, Elpeleg O, Mitchell G, Shoubridge EA. Sasarman F, et al. Hum Mol Genet. 2015 May 15;24(10):2841-7. doi: 10.1093/hmg/ddv044. Epub 2015 Feb 4. Hum Mol Genet. 2015. PMID: 25652405 Free PMC article.

3

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

Hinttala R, Sasarman F, Nishimura T, Antonicka H, Brunel-Guitton C, Schwartzentruber J, Fahiminiya S, Majewski J, Faubert D, Ostergaard E, Smeitink JA, Shoubridge EA. Hinttala R, et al. Hum Mol Genet. 2015 Jul 15;24(14):4103-13. doi: 10.1093/hmg/ddv149. Epub 2015 Apr 24. Hum Mol Genet. 2015. PMID: 25911677 Free PMC article.

4

Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.

Yang H, Al-Hertani W, Cyr D, Laframboise R, Parizeault G, Wang SP, Rossignol F, Berthier MT, Giguère Y, Waters PJ, Mitchell GA; Québec NTBC Study Group. Yang H, et al. J Med Genet. 2017 Apr;54(4):241-247. doi: 10.1136/jmedgenet-2016-104289. Epub 2016 Nov 22. J Med Genet. 2017. PMID: 27876694

5

Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease).

Zapata-Aldana E, McMillan HJ, Rupar T, Brunel-Guitton C, Chakraborty P, Mitchell JJ, Roth J, Tarnopolsky MA, Turner L, Campbell C. Zapata-Aldana E, et al. Among authors: brunel guitton c. Paediatr Child Health. 2019 Jul;24(4):270-271. doi: 10.1093/pch/pxy153. Epub 2019 May 8. Paediatr Child Health. 2019. PMID: 31239817 Free PMC article. No abstract available.

6

Enzyme replacement therapy in pediatric patients with Gaucher disease: what should we use as maintenance dosage?

Brunel-Guitton C, Rivard GE, Galipeau J, Alos N, Miron MC, Therrien R, Mitchell G, Lapierre G, Lambert M. Brunel-Guitton C, et al. Mol Genet Metab. 2009 Feb;96(2):73-6. doi: 10.1016/j.ymgme.2008.11.158. Epub 2008 Dec 10. Mol Genet Metab. 2009. PMID: 19083253

7

LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.

Sasarman F, Brunel-Guitton C, Antonicka H, Wai T, Shoubridge EA; LSFC Consortium. Sasarman F, et al. Mol Biol Cell. 2010 Apr 15;21(8):1315-23. doi: 10.1091/mbc.e10-01-0047. Epub 2010 Mar 3. Mol Biol Cell. 2010. PMID: 20200222 Free PMC article.

8

Mitochondrial Diseases and Cardiomyopathies.

Brunel-Guitton C, Levtova A, Sasarman F. Brunel-Guitton C, et al. Can J Cardiol. 2015 Nov;31(11):1360-76. doi: 10.1016/j.cjca.2015.08.017. Epub 2015 Aug 28. Can J Cardiol. 2015. PMID: 26518446 Review.

9

Atypical juvenile presentation of G_M2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.

Martins C, Brunel-Guitton C, Lortie A, Gauvin F, Morales CR, Mitchell GA, Pshezhetsky AV. Martins C, et al. Mol Genet Metab Rep. 2017 Apr 7;11:24-29. doi: 10.1016/j.ymgmr.2017.01.017. eCollection 2017 Jun. Mol Genet Metab Rep. 2017. PMID: 28417072 Free PMC article.

10

LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy.

Meijer IA, Sasarman F, Maftei C, Rossignol E, Vanasse M, Major P, Mitchell GA, Brunel-Guitton C. Meijer IA, et al. Mol Genet Metab Rep. 2015 Nov 8;5:85-88. doi: 10.1016/j.ymgmr.2015.10.010. eCollection 2015 Dec. Mol Genet Metab Rep. 2015. PMID: 28649549 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

34 results

Search Page