Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Katherine A. Dick"'
Autor:
Katherine A Dick Krueger, Shoji Tsuji, Yoko Fukuda, Yuji Takahashi, Jun Goto, Jun Mitsui, Hiroyuki Ishiura, Joline C Dalton, Michael B Miller, John W Day, Laura P W Ranum
Publikováno v:
PLoS ONE, Vol 4, Iss 5, p e5687 (2009)
The identification of genes for monogenic disorders has proven to be highly effective for understanding disease mechanisms, pathways and gene function in humans. Nevertheless, while thousands of Mendelian disorders have not yet been mapped there has
Externí odkaz:
https://doaj.org/article/7894dcaacaca49f0ac14cf27e2530734
Autor:
Krueger, Katherine A. Dick1,2, Tsuji, Shoji3, Fukuda, Yoko3, Takahashi, Yuji3, Goto, Jun3, Mitsui, Jun3, Ishiura, Hiroyuki3, Dalton, Joline C.1,2, Miller, Michael B.4, Day, John W.2,5, Ranum, Laura P. W.1,2 ranum001@umn.edu
Publikováno v:
PLoS ONE. 2009, Vol. 4 Issue 5, p1-13. 13p. 3 Diagrams, 2 Charts, 4 Graphs.
Autor:
Alicia M. Ruggiero, Andrew H. Crosby, Saeed Al-Turki, Barry A. Chioza, Katy E.S. Barwick, Jane Wright, Katherine J. Dick, Ali Al-Memar, Ajith Nair, Meriel M. McEntagart, Randy D. Blakely, Matthew E. Hurles, Hamid Modarres, Mary M. Reilly
Publikováno v:
The American Journal of Human Genetics. 91(6):1103-1107
The neuromuscular junction (NMJ) is a specialized synapse with a complex molecular architecture that provides for reliable transmission between the nerve terminal and muscle fiber. Using linkage analysis and whole-exome sequencing of DNA samples from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44935dca12f39e301207f1941c9c5156
Autor:
Ali Al-Memar, Michael A. Simpson, Katherine J. Dick, Michael A. Patton, Johanna A. Reed, Barry A. Chioza, Robert N. Lightowlers, Zofia M.A. Chrzanowska-Lightowlers, Harold E. Cross, Kay Gurtz, Andrew H. Crosby, Christos Proukakis, Heema Patel, Gaurav V. Harlalka, Reza Sharifi
Publikováno v:
The American Journal of Human Genetics. 87:655-660
In human mitochondria, polyadenylation of mRNA, undertaken by the nuclear-encoded mitochondrial poly(A) RNA polymerase, is essential for maintaining mitochondrial gene expression. Our molecular investigation of an autosomal-recessive spastic ataxia w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b2ccbdf91cc79bed25c4ce042747cec
https://doi.org/10.1016/j.ajhg.2010.09.013
https://doi.org/10.1016/j.ajhg.2010.09.013
Autor:
Andrew H. Crosby, Hannie Kremer, George W. Padberg, Hanns Lochmüller, Thomas R. Pieber, Jan Senderek, Sabine Uhrig, Christian Guelly, Katherine J. Dick, Michaela Auer-Grumbach, Richard E. Petty, Cheryl Longman, Zoltán Bálint, Neil E Anderson, Andrea Olschewski, Beate Schlotter-Weigel, Helenius J. Schelhaas, Bi Tang, Lea Papić, Conny M. A. van Ravenswaaij-Arts, Carina Fischer, Heimo Strohmaier, Meriel McEntagart, Angelika Krebs, Eleonore Fröhlich
Publikováno v:
Nature Genetics, 42(2), 160-U96. Nature Publishing Group
Nature Genetics, 42, 160-4
Nature Genetics, 42, 2, pp. 160-4
Nature Genetics, 42, 160-4
Nature Genetics, 42, 2, pp. 160-4
Contains fulltext : 88054_2.pdf (Publisher’s version ) (Closed access) Contains fulltext : 88054.pdf (author's version ) (Open Access) Spinal muscular atrophies (SMA, also known as hereditary motor neuropathies) and hereditary motor and sensory neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdf189c0ddaf9a059574fab2ad615f8a
https://research.rug.nl/en/publications/ddf1b88a-8439-46db-9165-56f5528ca6b1
https://research.rug.nl/en/publications/ddf1b88a-8439-46db-9165-56f5528ca6b1
Autor:
Coro Paisán-Ruiz, Volkmar Gieselmann, Matthias Eckhardt, Sandy Raeburn, Aisha Alkhayat Alshehhi, Katherine J. Dick, Naomi A. Sibtain, Michael A. Patton, Christos Proukakis, Wafa Bashir, Andrew H. Crosby, Henry Houlden, Roshan Koul, Helena Maier, Reza Sharifi
Publikováno v:
Human Mutation. 31:E1251-E1260
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of inherited neurodegenerative disorders in which the cardinal pathological feature is upper motor neurone degeneration leading to progressive spasticity and weakness of the lower li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b668f5eefcf3a2bd13cefeddb5107d8c
https://doi.org/10.1002/humu.21205
https://doi.org/10.1002/humu.21205
Autor:
R Al-Mjeni, Andrew H. Crosby, Michael A. Simpson, Roshan Koul, W Baskir, Katherine J. Dick, Michael A. Patton, S Raeburn
Publikováno v:
Neurology. 71:248-252
Background: The hereditary spastic paraplegias (HSPs) are a group of clinically and genetically heterogeneous neurodegenerative disorders in which the cardinal pathologic feature is upper motor neuron degeneration leading to progressive spasticity an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::004ba5e273fa3390039e65c57804c6fe
https://doi.org/10.1212/01.wnl.0000319610.29522.8a
https://doi.org/10.1212/01.wnl.0000319610.29522.8a
Autor:
H. Brent Clark, Alexis Brice, Marcy R Weatherspoon, Katrin Bürk, Dan Gincel, John W. Day, Katherine A. Dick, Karen R Armbrust, Giovanni Stevanin, Lawrence J. Schut, Joline C. Dalton, Laura P.W. Ranum, Alexandra Durr, Christine Zühlke, Yoshio Ikeda, Jeffrey D. Rothstein
Publikováno v:
Nature Genetics. 38:184-190
We have discovered that beta-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln's grandparents and two additional families. Two families have separate in-fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbc38dc15c4814a29ee6d5491f3386b2
https://doi.org/10.1038/ng1728
https://doi.org/10.1038/ng1728
Autor:
Gregory J. Beilman, J F Jacobsen, Joline C. Dalton, Christiane Schneider, Wolfram Kress, Andrew R. Harrison, Kenneth Ricker, Laura P.W. Ranum, L J Rasmussen, Manuela C. Koch, John W. Day, Katherine A. Dick
Publikováno v:
Neurology. 60:657-664
Background: Myotonic dystrophy types 1 (DM1) and 2 (DM2/proximal myotonic myopathy PROMM) are dominantly inherited disorders with unusual multisystemic clinical features. The authors have characterized the clinical and molecular features of DM2/PROMM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b55802959034339a89b29bf46cb6e88
https://doi.org/10.1212/01.wnl.0000054481.84978.f9
https://doi.org/10.1212/01.wnl.0000054481.84978.f9
Autor:
Panos Deloukas, Harald Grallert, Katherine J. Dick, Loukia Tsaprouni, Pierre-Emmanuel Morange, Johanna K. Sandling, François Cambien, Tim D. Spector, Christian Hengstenberg, Christian Gieger, David-Alexandre Trégouët, Nilesh J. Samani, Simone Wahl, Annette Peters, Christopher P. Nelson, Dylan Aïssi, Jeanette Erdmann, Willem H. Ouwehand, John R. Thompson, Melanie Waldenberger, Alison H. Goodall, Heribert Schunkert, Eshwar Meduri
Publikováno v:
Lancet (London, England). 383(9933)
Summary Background Obesity is a major health problem that is determined by interactions between lifestyle and environmental and genetic factors. Although associations between several genetic variants and body-mass index (BMI) have been identified, li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b4ffd06856497895669f9e0f3d9f23d
https://pubmed.ncbi.nlm.nih.gov/25203544
https://pubmed.ncbi.nlm.nih.gov/25203544