Search Results - "ROOKE, K"

Expression of BORIS levels in peripheral leukocytes of women with family history of breast cancer- another step toward developing a tumour marker for breast cancer by Mandal, Adhip, Chandrasekharan, S, Klenova, E, Rooke, K

Get full text

Changing Trends by Rooke, K

Get full text

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease by Goate, Alison, Chartier-Harlin, Marie-Christine, Mullan, Mike, Brown, Jeremy, Crawford, Fiona, Fidani, Liana, Giuffra, Luis, Haynes, Andrew, Irving, Nick, James, Louise, Mant, Rebecca, Newton, Phillippa, Rooke, Karen, Roques, Penelope, Talbot, Chris, Pericak-Vance, Margaret, Roses, Alien, Williamson, Robert, Rossor, Martin, Owen, Mike, Hardy, John

“…A locus segregating with familial Alzheimer's disease (AD) has been mapped to chromosome 21, close to the amyloid precursor protein (APP) gene. Recombinants…”
Get full text

SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis by Rouleau, G A, Clark, A W, Rooke, K, Pramatarova, A, Krizus, A, Suchowersky, O, Julien, J P, Figlewicz, D

“…Mutations in the Cu/Zn superoxide dismutase (SOD1) gene are found in 15 to 20% of patients with familial amyotrophic lateral sclerosis (FALS). Increased levels…”
Get more information

The use of flurazepam (dalmane) as a substitute for barbiturates and methaqualone/diphenhydramine (mandrax) in general practice by Rooke, K C

“…A twelve-week study involving fifty-three patients is described as taking place in a practice with a higher than average geriatric population. The purpose of…”
Get more information

Rapid update by Perks, Bea, Rooke, Karen

Get full text

Correlation between CAG repeat length and clinical features in Machado-Joseph disease by MACIEL, P, GASPAR, C, NEZARATI, M. M, CORWIN, L. I, LOPES-CENDES, I, ROOKE, K, ROSENBERG, R, MACLEOD, P, FARRER, L. A, SEQUEIROS, J, ROULEAU, G. A, DESTEFANO, A. L, SILVEIRA, I, COUTINHO, P, RADVANY, J, DAWSON, D. M, SUDARSKY, L, GUIMARAES, J, LOUREIRO, J. E. L

“…Machado-Joseph disease (MJD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene on 14q32.1. We confirmed the presence of this…”
Get full text

Analysis of the KSP repeat of the neurofilament heavy subunit in familial amyotrophic lateral sclerosis by ROOKE, K, FIGLEWICZ, D. A, HAN, F.-Y, ROULEAU, G. A

Get full text

Screening for mutations in the open reading frame and promoter of the beta-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val-->Ile by Fidani, L, Rooke, K, Chartier-Harlin, M C, Hughes, D, Tanzi, R, Mullan, M, Roques, P, Rossor, M, Hardy, J, Goate, A

“…Following the identification of mutations in the beta-amyloid precursor protein (APP) gene in familial, early onset Alzheimer's disease (AD), we have developed…”
Get more information

Analysis of the KSP repeat of the neurofilament heavy subunit in familiar amyotrophic lateral sclerosis by Rooke, K, Figlewicz, D A, Han, F Y, Rouleau, G A

“…We examined the neurofilament heavy subunit (NEFH) as a candidate gene for familial amyotrophic lateral sclerosis. We screened the KSP repeat region of the…”
Get full text

Rapid update by Rooke, Karen

Get full text

Mapping of three members of the mouse protein disulfide isomerase family by Briquet-Laugier, V, Xia, Y R, Rooke, K, Mehrabian, M, Lusis, A J, Doolittle, M H

“…Species: Mouse. Locus names: Glucose-regulated protein 58 (Grp58), endoplasmic reticulum protein 72 (Erp72), protein disulfide isomerase (P4hb). Locus symbols:…”
Get full text

Mapping of the gene for calreticulin (Calr) to mouse chromosome 8 by Rooke, K, Briquet-Laugier, V, Xia, Y R, Lusis, A J, Doolittle, M H

“…Calreticulin is a soluble 46-kDa protein that is one of the major proteins in the lumen of the endoplasmic reticulum and is expressed in a wide variety of…”
Get full text

A physical map of the human APP gene in YACs by Rooke, K, Talbot, C, James, L, Anand, R, Hardy, J A, Goate, A M

“…Several point mutations within exons 16 and 17 of the amyloid precursor protein (APP) gene have been reported that are associated with Alzheimer's disease in a…”
Get full text

Rapid update by Perks, Bea, Rooke, Karen

Get full text