Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Ruth E. Williams"'
Autor:
Sara E. Mole, Angela Schulz, Eben Badoe, Samuel F. Berkovic, Emily C. de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M. Lourenco, Heather L. Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre E. Olaya, Maurizio Scarpa, Ingrid E. Scheffer, Alessandro Simonati, Nicola Specchio, Ina Von Löbbecke, Raymond Y. Wang, Ruth E. Williams
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-19 (2021)
Abstract Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificit
Externí odkaz:
https://doaj.org/article/dca030d850824609987aa2702f2ac2b3
Autor:
Alessandro Simonati, Ruth E. Williams
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
The main aim of this review is to summarize the current state-of-art in the field of childhood Neuronal Ceroid Lipofuscinosis (NCL), a group of rare neurodegenerative disorders. These are genetic diseases associated with the formation of toxic endo-l
Externí odkaz:
https://doaj.org/article/f33fd128b8be436ea4ec021f28d57fb2
Autor:
Stephanie Oates, Shan Tang, Richard Rosch, Rosalie Lear, Elaine F. Hughes, Ruth E. Williams, Line H. G. Larsen, Qin Hao, Hans Atli Dahl, Rikke S. Møller, Deb K. Pal
Publikováno v:
npj Genomic Medicine, Vol 3, Iss 1, Pp 1-11 (2018)
Genetic screening: actionable information for epilepsy patients and clinicians Screening for epilepsy-related gene variants can lead to effective, personalized treatment plans while reducing costs. UK and Danish scientists, led by Deb Pal, King’s C
Externí odkaz:
https://doaj.org/article/fd1d22dfee3c4f5984bcd5e51f0e638b
Publikováno v:
Lysosomal Storage Disorders. :241-246
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb9f221ecf9238e0ff7f12eabdfd6aca
https://doi.org/10.1002/9781119697312.ch22
https://doi.org/10.1002/9781119697312.ch22
Autor:
Alessandro Simonati, Ruth E. Williams
Publikováno v:
Frontiers in neurology. 13
The main aim of this review is to summarize the current state-of-art in the field of childhood Neuronal Ceroid Lipofuscinosis (NCL), a group of rare neurodegenerative disorders. These are genetic diseases associated with the formation of toxic endo-l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83082ec2da382357e57f488d36df2e46
https://pubmed.ncbi.nlm.nih.gov/35359645
https://pubmed.ncbi.nlm.nih.gov/35359645
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
Autor:
R. Mark Gardiner, Michel Philippart, Sandra L. Hofmann, Frederick Andermann, Irene L. Hofman, Patricia B. Munroe, Yanick J. Crow, Carlos Becerra, Eva Andermann, Peter E.M. Taschner, Hannah M. Mitchison, A. M. O'rawe, Sara E. Mole, Ruth E Williams, John B.P. Stephenson, Brian D. Lake, Jean Jacques Martin
Publikováno v:
Human Molecular Genetics. 7:291-297
A subtype of neuronal ceroid lipofuscinosis (NCL) is well recognized which has a clinical course consistent with juvenile NCL (JNCL) but the ultrastructural characteristics of infantile NCL (INCL): granular osmiophilic deposits (GROD). Evidence suppo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d49aa9e67e8606dea68a62e3604794ce
https://doi.org/10.1093/hmg/7.2.291
https://doi.org/10.1093/hmg/7.2.291
