Mitchison HM - Search Results

1

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.

Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM. Castleman VH, et al. Among authors: mitchison hm. Am J Hum Genet. 2009 Feb;84(2):197-209. doi: 10.1016/j.ajhg.2009.01.011. Epub 2009 Feb 5. Am J Hum Genet. 2009. PMID: 19200523 Free PMC article.

2

Physical map of the region containing the gene for Batten disease (CLN3).

Järvelä IE, Mitchison HM, Callen DF, Lerner TJ, Doggett NA, Taschner PE, Gardiner RM, Mole SE. Järvelä IE, et al. Among authors: mitchison hm. Am J Med Genet. 1995 Jun 5;57(2):316-9. doi: 10.1002/ajmg.1320570242. Am J Med Genet. 1995. PMID: 7668354

3

Analysis of Batten disease candidate genes STP and STM.

Munroe PB, Mitchison HM, Dooley TP, Gardiner RM, Mole SE. Munroe PB, et al. Among authors: mitchison hm. Am J Med Genet. 1995 Jun 5;57(2):324-6. doi: 10.1002/ajmg.1320570244. Am J Med Genet. 1995. PMID: 7668356

4

Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.

Mitchison HM, O'Rawe AM, Taschner PE, Sandkuijl LA, Santavuori P, de Vos N, Breuning MH, Mole SE, Gardiner RM, Järvelä IE. Mitchison HM, et al. Am J Hum Genet. 1995 Mar;56(3):654-62. Am J Hum Genet. 1995. PMID: 7887419 Free PMC article.

5

Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis (CLN2) using markers on chromosome 16p.

Williams R, Mitchison H, Mckay T, Järvelä I, Gardiner RM. Williams R, et al. J Inherit Metab Dis. 1993;16(2):342-4. doi: 10.1007/BF00710279. J Inherit Metab Dis. 1993. PMID: 8411994 No abstract available.

6

Prenatal diagnosis of Batten's disease.

Munroe PB, Rapola J, Mitchison HM, Mustonen A, Mole SE, Gardiner RM, Jarvela I. Munroe PB, et al. Among authors: mitchison hm. Lancet. 1996 Apr 13;347(9007):1014-5. doi: 10.1016/s0140-6736(96)90148-8. Lancet. 1996. PMID: 8606564

7

A model for Batten disease protein CLN3: functional implications from homology and mutations.

Janes RW, Munroe PB, Mitchison HM, Gardiner RM, Mole SE, Wallace BA. Janes RW, et al. Among authors: mitchison hm. FEBS Lett. 1996 Dec 9;399(1-2):75-7. doi: 10.1016/s0014-5793(96)01290-2. FEBS Lett. 1996. PMID: 8980123 Free article.

8

Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein.

Mitchison HM, Taschner PE, Kremmidiotis G, Callen DF, Doggett NA, Lerner TJ, Janes RB, Wallace BA, Munroe PB, O'Rawe AM, Gardiner RM, Mole SE. Mitchison HM, et al. Neuropediatrics. 1997 Feb;28(1):12-4. doi: 10.1055/s-2007-973656. Neuropediatrics. 1997. PMID: 9151311

9

Strategy for mutation detection in CLN3: characterisation of two Finnish mutations.

Munroe PB, O'Rawe AM, Mitchison HM, Järvelä IE, Santavuori P, Lerner TJ, Taschner PE, Gardiner RM, Mole SE. Munroe PB, et al. Among authors: mitchison hm. Neuropediatrics. 1997 Feb;28(1):15-7. doi: 10.1055/s-2007-973657. Neuropediatrics. 1997. PMID: 9151312

10

Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

O'Rawe A, Mitchison HM, Williams R, Wheeler R, Andermann E, Andermann F, Hart YM, Martin JJ, Philippart M, Stephenson JB, Gardiner RM, Mole SE. O'Rawe A, et al. Among authors: mitchison hm. Neuropediatrics. 1997 Feb;28(1):21-2. doi: 10.1055/s-2007-973659. Neuropediatrics. 1997. PMID: 9151314

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