Majounie E - Search Results

1

Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

Upadhyaya M, Majounie E, Thompson P, Han S, Consoli C, Krawczak M, Cordeiro I, Cooper DN. Upadhyaya M, et al. Among authors: majounie e. Hum Genet. 2003 Jan;112(1):12-7. doi: 10.1007/s00439-002-0840-1. Epub 2002 Oct 9. Hum Genet. 2003. PMID: 12483293

2

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

Upadhyaya M, Han S, Consoli C, Majounie E, Horan M, Thomas NS, Potts C, Griffiths S, Ruggieri M, von Deimling A, Cooper DN. Upadhyaya M, et al. Among authors: majounie e. Hum Mutat. 2004 Feb;23(2):134-146. doi: 10.1002/humu.10305. Hum Mutat. 2004. PMID: 14722917

3

Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).

Upadhyaya M, Kluwe L, Spurlock G, Monem B, Majounie E, Mantripragada K, Ruggieri M, Chuzhanova N, Evans DG, Ferner R, Thomas N, Guha A, Mautner V. Upadhyaya M, et al. Among authors: majounie e. Hum Mutat. 2008 Jan;29(1):74-82. doi: 10.1002/humu.20601. Hum Mutat. 2008. PMID: 17960768

4

The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).

Upadhyaya M, Spurlock G, Majounie E, Griffiths S, Forrester N, Baser M, Huson SM, Gareth Evans D, Ferner R. Upadhyaya M, et al. Among authors: majounie e. Hum Mutat. 2006 Jul;27(7):716. doi: 10.1002/humu.9429. Hum Mutat. 2006. PMID: 16786508

5

A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations.

Sharif S, Upadhyaya M, Ferner R, Majounie E, Shenton A, Baser M, Thakker N, Evans DG. Sharif S, et al. Among authors: majounie e. J Med Genet. 2011 Apr;48(4):256-60. doi: 10.1136/jmg.2010.081760. Epub 2011 Jan 28. J Med Genet. 2011. PMID: 21278392

6

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.

De Raedt T, Maertens O, Chmara M, Brems H, Heyns I, Sciot R, Majounie E, Upadhyaya M, De Schepper S, Speleman F, Messiaen L, Vermeesch JR, Legius E. De Raedt T, et al. Among authors: majounie e. Genes Chromosomes Cancer. 2006 Oct;45(10):893-904. doi: 10.1002/gcc.20353. Genes Chromosomes Cancer. 2006. PMID: 16830335

7

Analysis of copy number variation using quantitative interspecies competitive PCR.

Williams NM, Williams H, Majounie E, Norton N, Glaser B, Morris HR, Owen MJ, O'Donovan MC. Williams NM, et al. Among authors: majounie e. Nucleic Acids Res. 2008 Oct;36(17):e112. doi: 10.1093/nar/gkn495. Epub 2008 Aug 12. Nucleic Acids Res. 2008. PMID: 18697816 Free PMC article.

8

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p.

Pearson JP, Williams NM, Majounie E, Waite A, Stott J, Newsway V, Murray A, Hernandez D, Guerreiro R, Singleton AB, Neal J, Morris HR. Pearson JP, et al. Among authors: majounie e. J Neurol. 2011 Apr;258(4):647-55. doi: 10.1007/s00415-010-5815-x. Epub 2010 Nov 12. J Neurol. 2011. PMID: 21072532 Free PMC article.

9

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC). Lesage S, et al. Among authors: majounie e. Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014. Am J Hum Genet. 2016. PMID: 26942284 Free PMC article.

10

Dentatorubral pallidoluysian atrophy in South Wales.

Wardle M, Majounie E, Williams NM, Rosser AE, Morris HR, Robertson NP. Wardle M, et al. Among authors: majounie e. J Neurol Neurosurg Psychiatry. 2008 Jul;79(7):804-7. doi: 10.1136/jnnp.2007.128074. Epub 2007 Oct 26. J Neurol Neurosurg Psychiatry. 2008. PMID: 17965145

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