Kennerson ML - Search Results

1

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.

Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY. Kennerson ML, et al. Am J Hum Genet. 2010 Mar 12;86(3):343-52. doi: 10.1016/j.ajhg.2010.01.027. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170900 Free PMC article.

2

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.

Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.

3

Charcot-Marie-Tooth neuropathy type 1A mutation: apparent crossovers with D17S122 are due to a duplication.

Nicholson GA, Kennerson ML, Keats BJ, Mesterovic N, Churcher W, Barker D, Ross DA. Nicholson GA, et al. Among authors: kennerson ml. Am J Med Genet. 1992 Nov 1;44(4):455-60. doi: 10.1002/ajmg.1320440414. Am J Med Genet. 1992. PMID: 1442887

4

Single test for two hereditary neuropathies, CMT1A and HNPP.

Kennerson ML, Gordon MJ, Blair IP, Nicholson GA. Kennerson ML, et al. Clin Chem. 1995 Oct;41(10):1534-5. Clin Chem. 1995. PMID: 7586531 No abstract available.

5

Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction.

Blair IP, Kennerson ML, Nicholson GA. Blair IP, et al. Among authors: kennerson ml. Clin Chem. 1995 Aug;41(8 Pt 1):1105-8. Clin Chem. 1995. PMID: 7628084

6

Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20.

Berkovic SF, Kennerson ML, Howell RA, Scheffer IE, Hwang PA, Nicholson GA. Berkovic SF, et al. Among authors: kennerson ml. Arch Neurol. 1994 Nov;51(11):1125-8. doi: 10.1001/archneur.1994.00540230063014. Arch Neurol. 1994. PMID: 7980108

7

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies.

Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, McLeod JG, Bolhuis PA, et al. Nicholson GA, et al. Among authors: kennerson ml. Nat Genet. 1994 Mar;6(3):263-6. doi: 10.1038/ng0394-263. Nat Genet. 1994. PMID: 8012388

8

The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3.

Nicholson GA, Dawkins JL, Blair IP, Kennerson ML, Gordon MJ, Cherryson AK, Nash J, Bananis T. Nicholson GA, et al. Among authors: kennerson ml. Nat Genet. 1996 May;13(1):101-4. doi: 10.1038/ng0596-101. Nat Genet. 1996. PMID: 8673084

9

The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene.

Kennerson ML, Nassif NT, Dawkins JL, DeKroon RM, Yang JG, Nicholson GA. Kennerson ML, et al. Genomics. 1997 Nov 15;46(1):61-9. doi: 10.1006/geno.1997.5012. Genomics. 1997. PMID: 9403059

10

Genomic structure and physical mapping of C17orf1: a gene associated with the proximal element of the CMT1A-REP binary repeat.

Kennerson ML, Nassif NT, Nicholson GA. Kennerson ML, et al. Genomics. 1998 Oct 1;53(1):110-2. doi: 10.1006/geno.1998.5453. Genomics. 1998. PMID: 9787083

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