Chinnery PF - Search Results

1

An unusual gait following the discovery of a new disease.

Keogh MJ, Khan A, Gorman G, McNeill A, Horvath R, Burn J, Chinnery PF. Keogh MJ, et al. Among authors: chinnery pf. Pract Neurol. 2011 Apr;11(2):81-4. doi: 10.1136/jnnp.2011.242230. Pract Neurol. 2011. PMID: 21385964

2

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.

Curtis AR, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J. Curtis AR, et al. Among authors: chinnery pf. Nat Genet. 2001 Aug;28(4):350-4. doi: 10.1038/ng571. Nat Genet. 2001. PMID: 11438811

3

Neuroferritinopathy: a window on the role of iron in neurodegeneration.

Crompton DE, Chinnery PF, Fey C, Curtis AR, Morris CM, Kierstan J, Burt A, Young F, Coulthard A, Curtis A, Ince PG, Bates D, Jackson MJ, Burn J. Crompton DE, et al. Among authors: chinnery pf. Blood Cells Mol Dis. 2002 Nov-Dec;29(3):522-31. doi: 10.1006/bcmd.2002.0589. Blood Cells Mol Dis. 2002. PMID: 12547246

4

Neuroferritinopathy in a French family with late onset dominant dystonia.

Chinnery PF, Curtis AR, Fey C, Coulthard A, Crompton D, Curtis A, Lombés A, Burn J. Chinnery PF, et al. J Med Genet. 2003 May;40(5):e69. doi: 10.1136/jmg.40.5.e69. J Med Genet. 2003. PMID: 12746423 Free PMC article. No abstract available.

5

Risk of developing a mitochondrial DNA deletion disorder.

Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM. Chinnery PF, et al. Lancet. 2004 Aug 14-20;364(9434):592-6. doi: 10.1016/S0140-6736(04)16851-7. Lancet. 2004. PMID: 15313359

6

Spectrum of movement disorders in neuroferritinopathy.

Crompton DE, Chinnery PF, Bates D, Walls TJ, Jackson MJ, Curtis AJ, Burn J. Crompton DE, et al. Among authors: chinnery pf. Mov Disord. 2005 Jan;20(1):95-9. doi: 10.1002/mds.20284. Mov Disord. 2005. PMID: 15390132

7

Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.

Hudson G, Deschauer M, Busse K, Zierz S, Chinnery PF. Hudson G, et al. Among authors: chinnery pf. Neurology. 2005 Jan 25;64(2):371-3. doi: 10.1212/01.WNL.0000149767.51152.83. Neurology. 2005. PMID: 15668446

8

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.

Hudson G, Keers S, Yu-Wai-Man P, Griffiths P, Huoponen K, Savontaus ML, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, de Coo IF, Smeets HJ, Chinnery PF. Hudson G, et al. Among authors: chinnery pf. Am J Hum Genet. 2005 Dec;77(6):1086-91. doi: 10.1086/498176. Epub 2005 Oct 11. Am J Hum Genet. 2005. PMID: 16380918 Free PMC article.

9

Neuroferritinopathy.

Burn J, Chinnery PF. Burn J, et al. Among authors: chinnery pf. Semin Pediatr Neurol. 2006 Sep;13(3):176-81. doi: 10.1016/j.spen.2006.08.006. Semin Pediatr Neurol. 2006. PMID: 17101456

10

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.

Chinnery PF, Crompton DE, Birchall D, Jackson MJ, Coulthard A, Lombès A, Quinn N, Wills A, Fletcher N, Mottershead JP, Cooper P, Kellett M, Bates D, Burn J. Chinnery PF, et al. Brain. 2007 Jan;130(Pt 1):110-9. doi: 10.1093/brain/awl319. Epub 2006 Dec 2. Brain. 2007. PMID: 17142829

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