Zobrazeno 1 - 10
of 35
pro vyhledávání: '"RB Wheeler"'
Publikováno v:
Experimental Cell Research. 298:399-406
The neuronal ceroid lipofuscinoses (NCLs) are severe inherited neurodegenerative disorders affecting children. In this disease, lysosomes accumulate autofluorescent storage material and there is death of neurons. Five types of NCL are caused by mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9da71e1387635786d9f054f854154631
https://doi.org/10.1016/j.yexcr.2004.04.042
https://doi.org/10.1016/j.yexcr.2004.04.042
Autor:
Liina Lonka, RM Gardiner, Ruth E Williams, JD Sharp, Wayne A. Mitchell, Anna-Elina Lehesjoki, RB Wheeler, Sara E. Mole, U. S. Ranta, S. L. Bate
Publikováno v:
European Journal of Paediatric Neurology. 5:21-27
One variant form of late infantile neuronal ceroid lipofuscinosis (LINCL) is found predominantly within the Turkish population (CLN7). Exclusion mapping showed that CLN7 was not an allelic variant of known NCL loci (CLN1, CLN2, CLN3, CLN5 or CLN6). U
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1facb7e42f64c00a5fec4c7099282a2
https://doi.org/10.1053/ejpn.2000.0429
https://doi.org/10.1053/ejpn.2000.0429
Publikováno v:
Prenatal Diagnosis. 20:337-339
We report the exclusion of late infantile neuronal ceroid lipofuscinosis in a fetus by assay of tripeptidyl peptidase I activity and by mutational analysis in chorionic villi. This is the first pregnancy at risk for LINCL to be monitored by enzyme as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::120e116c3227730057cf61ae7705e422
https://doi.org/10.1002/(sici)1097-0223(200004)20:4<337::aid-pd811>3.0.co
https://doi.org/10.1002/(sici)1097-0223(200004)20:4<337::aid-pd811>3.0.co
Autor:
Minna Savukoski, Marjo Kestila, Rachel Williams, Hans Eiberg, JD Sharp, Leena Peltonen, Irma Järvelä, RM Gardiner, RB Wheeler
Publikováno v:
European Journal of Human Genetics. 3:326-328
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0552cdb1f9afced9bb36f74a3735ff2
https://doi.org/10.1159/000472317
https://doi.org/10.1159/000472317
Publikováno v:
Human mutation. 22(1)
The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases of childhood. CLN6, the gene mutated in variant late infantile NCL (vLINCL), was recently cloned. We report the identification of eight further mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e66f6fc7c889f20ac4d0267f060ce3c
https://pubmed.ncbi.nlm.nih.gov/12815591
https://pubmed.ncbi.nlm.nih.gov/12815591
Publikováno v:
American journal of human genetics. 70(2)
The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases characterized by the accumulation of autofluorescent lipopigment in various tissues and by progressive cell death in the brain and retina. The gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acf659ffa077ed61423cef516b396e37
https://pubmed.ncbi.nlm.nih.gov/11727201
https://pubmed.ncbi.nlm.nih.gov/11727201
Autor:
JD Sharp, John M. Joslin, Sara E. Mole, RB Wheeler, R. Mark Gardiner, Roger A. Schultz, Ruth E Williams
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 5
CLN6, the gene for variant late infantile neuronal ceroid lipofuscinosis, was mapped to a 4 cM region on chromosome 15q22-23. Subsequently the critical region was narrowed to less than 1 cM between microsatellite markers D15S988 and D15S1000 by addit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b6fb9ea727a7d4bdc88c20eec2af892
https://pubmed.ncbi.nlm.nih.gov/11589002
https://pubmed.ncbi.nlm.nih.gov/11589002
Publikováno v:
Molecular genetics and metabolism. 66(4)
CLN6, the gene for a variant late infantile neuronal ceroid lipofuscinosis, has been mapped to chromosome 15q21–23 by homozygosity mapping. At present the family resource consists of 31 families. By the analysis of additional polymorphic markers in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75c5c0bc3d99f4936d59ad29ae85cc4c
https://pubmed.ncbi.nlm.nih.gov/10191123
https://pubmed.ncbi.nlm.nih.gov/10191123
Autor:
RB Wheeler, RM Gardiner, Brian D. Lake, JD Sharp, Wayne A. Mitchell, Ruth E Williams, S. L. Bate
Publikováno v:
Molecular genetics and metabolism. 66(4)
To date two genes are known to be involved in variant LINCL, CLN5 and CLN6, which map to chromosomes 13q21 and 15q21–23. A subset of Turkish families with a variant phenotype has been identified. Affected individuals have curvilinear bodies and fin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ccc373dadeee37060b4697500b03603
https://pubmed.ncbi.nlm.nih.gov/10191125
https://pubmed.ncbi.nlm.nih.gov/10191125
Autor:
RM Gardiner, JD Sharp, Leena Peltonen, RB Wheeler, Brian D. Lake, Irma Järvelä, Ruth E Williams, Minna Savukoski
Publikováno v:
Human molecular genetics. 6(4)
The childhood neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative disorders characterised by progressive visual failure, neurodegeneration, epilepsy and the accumulation of an autofluorescent lipopigment in neur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76f47968f5cc56046cd5556a4d393f2a
https://pubmed.ncbi.nlm.nih.gov/9097964
https://pubmed.ncbi.nlm.nih.gov/9097964