Hand CK - Search Results

1

A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree.

Skehan EB, Abdulrahim MM, Parfrey NA, Hand CK. Skehan EB, et al. Among authors: hand ck. Neurogenetics. 2012 May;13(2):125-32. doi: 10.1007/s10048-012-0317-x. Epub 2012 Mar 14. Neurogenetics. 2012. PMID: 22411506

2

A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred.

Fernandez DM, Hand CK, Sweeney BJ, Parfrey NA. Fernandez DM, et al. Among authors: hand ck. Headache. 2008 Jan;48(1):101-8. doi: 10.1111/j.1526-4610.2007.00848.x. Headache. 2008. PMID: 18184292

3

Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree.

Hand CK, McGuire M, Parfrey NA, Murphy CC. Hand CK, et al. Ophthalmic Genet. 2017 Mar-Apr;38(2):148-151. doi: 10.3109/13816810.2016.1151901. Epub 2016 Apr 8. Ophthalmic Genet. 2017. PMID: 27057589

4

Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct.

Callaghan M, Hand CK, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA. Callaghan M, et al. Among authors: hand ck. Br J Ophthalmol. 1999 Jan;83(1):115-9. doi: 10.1136/bjo.83.1.115. Br J Ophthalmol. 1999. PMID: 10209448 Free PMC article.

5

Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping.

Hand CK, Harmon DL, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA. Hand CK, et al. Genomics. 1999 Oct 1;61(1):1-4. doi: 10.1006/geno.1999.5920. Genomics. 1999. PMID: 10512674

6

Phenotypic Variation in a Caucasian Kindred with Chorea-Acanthocytosis.

Merwick Á, Mok T, McNamara B, Parfrey NA, Moore H, Sweeney BJ, Hand CK, Ryan AM. Merwick Á, et al. Among authors: hand ck. Mov Disord Clin Pract. 2014 Dec 6;2(1):86-89. doi: 10.1002/mdc3.12117. eCollection 2015 Mar. Mov Disord Clin Pract. 2014. PMID: 30713887 Free PMC article. No abstract available.

7

A novel PLP1 mutation further expands the clinical heterogeneity at the locus.

Hand CK, Bernard G, Dubé MP, Shevell MI, Rouleau GA. Hand CK, et al. Can J Neurol Sci. 2012 Mar;39(2):220-4. doi: 10.1017/s0317167100013263. Can J Neurol Sci. 2012. PMID: 22343157

8

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.

Hand CK, Khoris J, Salachas F, Gros-Louis F, Lopes AA, Mayeux-Portas V, Brewer CG, Brown RH Jr, Meininger V, Camu W, Rouleau GA. Hand CK, et al. Am J Hum Genet. 2002 Jan;70(1):251-6. doi: 10.1086/337945. Epub 2001 Nov 9. Am J Hum Genet. 2002. PMID: 11706389 Free PMC article.

9

A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13.

Meijer IA, Hand CK, Grewal KK, Stefanelli MG, Ives EJ, Rouleau GA. Meijer IA, et al. Among authors: hand ck. Am J Hum Genet. 2002 Mar;70(3):763-9. doi: 10.1086/338933. Epub 2001 Dec 31. Am J Hum Genet. 2002. PMID: 11774073 Free PMC article.

10

Chorea-Acanthocytosis and the Huntington Disease Allele in an Irish Family.

Murphy OC, O'Toole O, Hand CK, Ryan AM. Murphy OC, et al. Among authors: hand ck. Tremor Other Hyperkinet Mov (N Y). 2018 Oct 26;8:604. doi: 10.7916/D8R22J6M. eCollection 2018. Tremor Other Hyperkinet Mov (N Y). 2018. PMID: 30622839 Free PMC article. No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

26 results

Search Page