Chance PF - Search Results

1

Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.

Chen YZ, Hashemi SH, Anderson SK, Huang Y, Moreira MC, Lynch DR, Glass IA, Chance PF, Bennett CL. Chen YZ, et al. Among authors: chance pf. Neurobiol Dis. 2006 Jul;23(1):97-108. doi: 10.1016/j.nbd.2006.02.007. Epub 2006 Apr 27. Neurobiol Dis. 2006. PMID: 16644229

2

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).

Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF. Chen YZ, et al. Among authors: chance pf. Am J Hum Genet. 2004 Jun;74(6):1128-35. doi: 10.1086/421054. Epub 2004 Apr 21. Am J Hum Genet. 2004. PMID: 15106121 Free PMC article.

3

SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease.

Shirk AJ, Anderson SK, Hashemi SH, Chance PF, Bennett CL. Shirk AJ, et al. Among authors: chance pf. J Neurosci Res. 2005 Oct 1;82(1):43-50. doi: 10.1002/jnr.20628. J Neurosci Res. 2005. PMID: 16118794

4

Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.

Bennett CL, Parisi MA, Eckert ML, Huynh HM, Chance PF, Glass IA. Bennett CL, et al. Among authors: chance pf. Am J Med Genet A. 2004 Mar 1;125A(2):117-24; discussion 117. doi: 10.1002/ajmg.a.20438. Am J Med Genet A. 2004. PMID: 14981711

5

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA. Parisi MA, et al. Among authors: chance pf. Am J Hum Genet. 2004 Jul;75(1):82-91. doi: 10.1086/421846. Epub 2004 May 11. Am J Hum Genet. 2004. PMID: 15138899 Free PMC article.

6

Joubert syndrome (and related disorders) (OMIM 213300).

Parisi MA, Doherty D, Chance PF, Glass IA. Parisi MA, et al. Among authors: chance pf. Eur J Hum Genet. 2007 May;15(5):511-21. doi: 10.1038/sj.ejhg.5201648. Epub 2007 Mar 21. Eur J Hum Genet. 2007. PMID: 17377524

7

Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies.

Bennett CL, Chance PF. Bennett CL, et al. Among authors: chance pf. Curr Opin Neurol. 2001 Oct;14(5):621-7. doi: 10.1097/00019052-200110000-00011. Curr Opin Neurol. 2001. PMID: 11562574 Review.

8

Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.

Bennett CL, Huynh HM, Chance PF, Glass IA, Gospe SM Jr. Bennett CL, et al. Among authors: chance pf. Neurogenetics. 2005 Sep;6(3):143-9. doi: 10.1007/s10048-005-0221-8. Epub 2005 Aug 2. Neurogenetics. 2005. PMID: 16075246

9

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA. Parisi MA, et al. Among authors: chance pf. J Med Genet. 2006 Apr;43(4):334-9. doi: 10.1136/jmg.2005.036608. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155189 Free PMC article.

10

In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.

Bassuk AG, Chen YZ, Batish SD, Nagan N, Opal P, Chance PF, Bennett CL. Bassuk AG, et al. Among authors: chance pf. Neurogenetics. 2007 Jan;8(1):45-9. doi: 10.1007/s10048-006-0067-8. Epub 2006 Nov 10. Neurogenetics. 2007. PMID: 17096168

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