Harding AE - Search Results

1

The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias.

Giunti P, Sweeney MG, Spadaro M, Jodice C, Novelletto A, Malaspina P, Frontali M, Harding AE. Giunti P, et al. Among authors: harding ae. Brain. 1994 Aug;117 ( Pt 4):645-9. doi: 10.1093/brain/117.4.645. Brain. 1994. PMID: 7922453 Free article.

2

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies.

Hammans SR, Sweeney MG, Wicks DA, Morgan-Hughes JA, Harding AE. Hammans SR, et al. Among authors: harding ae. Brain. 1992 Apr;115 ( Pt 2):343-65. doi: 10.1093/brain/115.2.343. Brain. 1992. PMID: 1606473

3

Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth.

Giunti P, Sweeney MG, Harding AE. Giunti P, et al. Among authors: harding ae. Brain. 1995 Oct;118 ( Pt 5):1077-85. doi: 10.1093/brain/118.5.1077. Brain. 1995. PMID: 7496771

4

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.

Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE. Hammans SR, et al. Among authors: harding ae. Brain. 1995 Jun;118 ( Pt 3):721-34. doi: 10.1093/brain/118.3.721. Brain. 1995. PMID: 7600089

5

Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.

Harding AE, Sweeney MG, Govan GG, Riordan-Eva P. Harding AE, et al. Am J Hum Genet. 1995 Jul;57(1):77-86. Am J Hum Genet. 1995. PMID: 7611298 Free PMC article.

6

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation.

Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE. Riordan-Eva P, et al. Among authors: harding ae. Brain. 1995 Apr;118 ( Pt 2):319-37. doi: 10.1093/brain/118.2.319. Brain. 1995. PMID: 7735876

7

Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.

Jodice C, Malaspina P, Persichetti F, Novelletto A, Spadaro M, Giunti P, Morocutti C, Terrenato L, Harding AE, Frontali M. Jodice C, et al. Among authors: harding ae. Am J Hum Genet. 1994 Jun;54(6):959-65. Am J Hum Genet. 1994. PMID: 8198139 Free PMC article.

8

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

Hammans SR, Sweeney MG, Brockington M, Lennox GG, Lawton NF, Kennedy CR, Morgan-Hughes JA, Harding AE. Hammans SR, et al. Among authors: harding ae. Brain. 1993 Jun;116 ( Pt 3):617-32. doi: 10.1093/brain/116.3.617. Brain. 1993. PMID: 8513395

9

Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.

Chalmers RM, Davis MB, Sweeney MG, Wood NW, Harding AE. Chalmers RM, et al. Among authors: harding ae. Am J Hum Genet. 1996 Jul;59(1):103-8. Am J Hum Genet. 1996. PMID: 8659512 Free PMC article.

10

The phenotypic manifestations of chromosome 17p11.2 duplication.

Thomas PK, Marques W Jr, Davis MB, Sweeney MG, King RH, Bradley JL, Muddle JR, Tyson J, Malcolm S, Harding AE. Thomas PK, et al. Among authors: harding ae. Brain. 1997 Mar;120 ( Pt 3):465-78. doi: 10.1093/brain/120.3.465. Brain. 1997. PMID: 9126058

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

251 results

Search Page

Filters