Brewer MH - Search Results

1

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.

Cutrupi AN, Brewer MH, Nicholson GA, Kennerson ML. Cutrupi AN, et al. Among authors: brewer mh. Mol Genet Genomic Med. 2018 May;6(3):422-433. doi: 10.1002/mgg3.390. Epub 2018 Mar 23. Mol Genet Genomic Med. 2018. PMID: 29573232 Free PMC article. Review.

2

Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.

Narayanan RK, Brewer MH, Perez-Siles G, Ellis M, Ly C, Burgess A, Neumann B, Nicholson GA, Vucic S, Kennerson ML. Narayanan RK, et al. Among authors: brewer mh. Hum Mol Genet. 2021 Dec 17;31(1):133-145. doi: 10.1093/hmg/ddab228. Hum Mol Genet. 2021. PMID: 34387338 Free PMC article.

3

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.

Drew AP, Zhu D, Kidambi A, Ly C, Tey S, Brewer MH, Ahmad-Annuar A, Nicholson GA, Kennerson ML. Drew AP, et al. Among authors: brewer mh. Mol Genet Genomic Med. 2015 Mar;3(2):143-54. doi: 10.1002/mgg3.126. Epub 2015 Jan 14. Mol Genet Genomic Med. 2015. PMID: 25802885 Free PMC article.

4

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

Brewer MH, Chaudhry R, Qi J, Kidambi A, Drew AP, Menezes MP, Ryan MM, Farrar MA, Mowat D, Subramanian GM, Young HK, Zuchner S, Reddel SW, Nicholson GA, Kennerson ML. Brewer MH, et al. PLoS Genet. 2016 Jul 20;12(7):e1006177. doi: 10.1371/journal.pgen.1006177. eCollection 2016 Jul. PLoS Genet. 2016. PMID: 27438001 Free PMC article.

5

A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.

Drew AP, Cutrupi AN, Brewer MH, Nicholson GA, Kennerson ML. Drew AP, et al. Among authors: brewer mh. Hum Genet. 2016 Nov;135(11):1269-1278. doi: 10.1007/s00439-016-1720-4. Epub 2016 Aug 3. Hum Genet. 2016. PMID: 27487800

6

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.

Kanhangad M, Cornett K, Brewer MH, Nicholson GA, Ryan MM, Smith RL, Subramanian GM, Young HK, Züchner S, Kennerson ML, Burns J, Menezes MP. Kanhangad M, et al. Among authors: brewer mh. Neurology. 2018 May 8;90(19):e1706-e1710. doi: 10.1212/WNL.0000000000005479. Epub 2018 Apr 6. Neurology. 2018. PMID: 29626178 Free PMC article.

7

Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.

Kennerson ML, Warburton T, Nelis E, Brewer M, Polly P, De Jonghe P, Timmerman V, Nicholson GA. Kennerson ML, et al. Clin Chem. 2007 Feb;53(2):349-52. doi: 10.1373/clinchem.2006.080010. Epub 2007 Jan 2. Clin Chem. 2007. PMID: 17200131

8

Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes.

Nicholson G, Kennerson M, Brewer M, Garbern J, Shy M. Nicholson G, et al. Adv Exp Med Biol. 2009;652:201-6. doi: 10.1007/978-90-481-2813-6_13. Adv Exp Med Biol. 2009. PMID: 20225027 Review.

9

Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.

Chaudhry R, Kidambi A, Brewer MH, Antonellis A, Mathews K, Nicholson G, Kennerson M. Chaudhry R, et al. Among authors: brewer mh. Muscle Nerve. 2013 Jun;47(6):922-4. doi: 10.1002/mus.23743. Epub 2013 Mar 29. Muscle Nerve. 2013. PMID: 23553728 Free PMC article.

10

Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.

Brewer M, Changi F, Antonellis A, Fischbeck K, Polly P, Nicholson G, Kennerson M. Brewer M, et al. Neurogenetics. 2008 Jul;9(3):191-5. doi: 10.1007/s10048-008-0126-4. Epub 2008 May 6. Neurogenetics. 2008. PMID: 18458969 Free PMC article.

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