Dobson-Stone C - Search Results

1

Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study.

Porter DE, Lonie L, Fraser M, Dobson-Stone C, Porter JR, Monaco AP, Simpson AH. Porter DE, et al. J Bone Joint Surg Br. 2004 Sep;86(7):1041-6. doi: 10.1302/0301-620x.86b7.14815. J Bone Joint Surg Br. 2004. PMID: 15446535

2

Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.

Henden L, Fearnley LG, Grima N, McCann EP, Dobson-Stone C, Fitzpatrick L, Friend K, Hobson L, Chan Moi Fat S, Rowe DB, D'Silva S, Kwok JB, Halliday GM, Kiernan MC, Mazumder S, Timmins HC, Zoing M, Pamphlett R, Adams L, Bahlo M, Blair IP, Williams KL. Henden L, et al. Among authors: dobson stone c. Sci Adv. 2023 May 5;9(18):eade2044. doi: 10.1126/sciadv.ade2044. Epub 2023 May 5. Sci Adv. 2023. PMID: 37146135 Free PMC article.

3

Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC).

Rubio JP, Levy ER, Dobson-Stone C, Monaco AP. Rubio JP, et al. Genomics. 1999 Apr 1;57(1):84-93. doi: 10.1006/geno.1999.5758. Genomics. 1999. PMID: 10191087

4

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.

Dobson-Stone C, Cox RD, Lonie L, Southam L, Fraser M, Wise C, Bernier F, Hodgson S, Porter DE, Simpson AH, Monaco AP. Dobson-Stone C, et al. Eur J Hum Genet. 2000 Jan;8(1):24-32. doi: 10.1038/sj.ejhg.5200409. Eur J Hum Genet. 2000. PMID: 10713884

5

Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.

Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larrègue M, Perrussel M, Lehrach H, Munro CS, Strachan T, Burge S, Hovnanian A, Monaco AP. Sudbrak R, et al. Hum Mol Genet. 2000 Apr 12;9(7):1131-40. doi: 10.1093/hmg/9.7.1131. Hum Mol Genet. 2000. PMID: 10767338

6

McLeod neuroacanthocytosis: genotype and phenotype.

Danek A, Rubio JP, Rampoldi L, Ho M, Dobson-Stone C, Tison F, Symmans WA, Oechsner M, Kalckreuth W, Watt JM, Corbett AJ, Hamdalla HH, Marshall AG, Sutton I, Dotti MT, Malandrini A, Walker RH, Daniels G, Monaco AP. Danek A, et al. Ann Neurol. 2001 Dec;50(6):755-64. doi: 10.1002/ana.10035. Ann Neurol. 2001. PMID: 11761473

7

Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.

Dobson-Stone C, Fairclough R, Dunne E, Brown J, Dissanayake M, Munro CS, Strachan T, Burge S, Sudbrak R, Monaco AP, Hovnanian A. Dobson-Stone C, et al. J Invest Dermatol. 2002 Feb;118(2):338-43. doi: 10.1046/j.0022-202x.2001.01675.x. J Invest Dermatol. 2002. PMID: 11841554 Free article.

8

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.

Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel LP, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupré N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Németh A, Monaco AP. Dobson-Stone C, et al. Eur J Hum Genet. 2002 Nov;10(11):773-81. doi: 10.1038/sj.ejhg.5200866. Eur J Hum Genet. 2002. PMID: 12404112

9

Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.

Bohlega S, Al-Jishi A, Dobson-Stone C, Rampoldi L, Saha P, Murad H, Kareem A, Roberts G, Monaco AP. Bohlega S, et al. Mov Disord. 2003 Apr;18(4):403-7. doi: 10.1002/mds.10361. Mov Disord. 2003. PMID: 12671946

10

Chorein detection for the diagnosis of chorea-acanthocytosis.

Dobson-Stone C, Velayos-Baeza A, Filippone LA, Westbury S, Storch A, Erdmann T, Wroe SJ, Leenders KL, Lang AE, Dotti MT, Federico A, Mohiddin SA, Fananapazir L, Daniels G, Danek A, Monaco AP. Dobson-Stone C, et al. Ann Neurol. 2004 Aug;56(2):299-302. doi: 10.1002/ana.20200. Ann Neurol. 2004. PMID: 15293285

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