Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Louise V. B. Anderson"'
Publikováno v:
Neurogenetics. 4:173-177
Welander distal myopathy (WDM) is a late adult-onset autosomal dominant disorder, characterized by a slow progression and distal limb weakness of the extremity muscles. The WDM locus has been mapped to chromosome 2p13. Within this region a common sha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a43293ea7d53ff2b28dcd7a30da319ed
https://doi.org/10.1007/s10048-003-0154-z
https://doi.org/10.1007/s10048-003-0154-z
Autor:
Flávia de Paula, Mariz Vainzof, Maria Rita Passos-Bueno, Rita de Cássia M Pavanello, Sergio Russo Matioli, Louise V B Anderson, Vincenzo Nigro, Mayana Zatz
Publikováno v:
European Journal of Human Genetics. 10:825-832
Limb girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic disorders characterised by progressive weakness of the pelvic and shoulder girdle muscles and a great variability in clinical course. LGMD2A, the most prevalent form of LGMD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7add9b2dd741f671c0642eb400dbdca
https://doi.org/10.1038/sj.ejhg.5200888
https://doi.org/10.1038/sj.ejhg.5200888
Autor:
Antje Bornemann, Louise V. B. Anderson
Publikováno v:
Brain Pathol
Using immunohistochemistry in diagnosing neuromuscular diseases is meant to enhance the diagnostic yield in two ways. The first application aims at visualizing molecules which are developmentally, neurally, and/or immunologically regulated and not ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bfcee013a6a519ce46180f226fc7b59
https://doi.org/10.1111/j.1750-3639.2000.tb00254.x
https://doi.org/10.1111/j.1750-3639.2000.tb00254.x
Autor:
Louise V. B. Anderson, Kate Bushby, Jacques S. Beckmann, Elena Kudryashova, Irina Kramerova, Melissa J. Spencer, Niaz Cohen
Publikováno v:
Proteomics. 6(22)
Calpain 3 (CAPN3) is a calcium-dependent protease, mutations in which cause limb girdle muscular dystrophy type 2A. To explore the physiological function of CAPN3, we compared the proteomes of transgenic mice that overexpress CAPN3 (CAPN3 Tg) and the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::163f48f103c67ad6bf44ebf25612828f
https://pubmed.ncbi.nlm.nih.gov/17051641
https://pubmed.ncbi.nlm.nih.gov/17051641
Autor:
de Greef, Jessica C., Hamlyn, Rebecca, Jensen, Braden S., Landa, Raul O'Campo, Levy, Jennifer R., Kobuke, Kazuhiro, Campbell, Kevin P.
Publikováno v:
Human Molecular Genetics; 4/1/2016, Vol. 25 Issue 7, p1357-1369, 13p
Autor:
Gouveia, Telma L. F., Kossugue, Patrícia M., Paim, Julia F., Zatz, Mayana, Anderson, Louise V. B., Nigro, Vincenzo, Vainzof, Mariz
Publikováno v:
Journal of Molecular Medicine; Apr2007, Vol. 85 Issue 4, p415-420, 6p, 1 Diagram, 1 Chart
Autor:
Yanchao Huang, Laval, Steven H., Van Remoortere, Alexandra, Baudier, Jacques, Benaud, Chriselle, Anderson, Louise V. B., Straub, Volker, Deelder, Andre, Frants, Rune R., Den Dunnen, Johan T., Bushby, Kate, Van Der Maarel, Silvère M.
Publikováno v:
FASEB Journal; Mar2007, Vol. 21 Issue 3, p732-742, 11p, 8 Diagrams
Autor:
MNH
Publikováno v:
Journal of Neuropathology & Experimental Neurology; Oct2001, Vol. 60 Issue 10, p1021-1021, 1p
Publikováno v:
Neurogenetics; Aug2003, Vol. 4 Issue 4, p173-177, 5p
Autor:
Vafiadaki, Elizabeth, Reis, Andre, Keers, Sharon, Harrison, Ruth, Anderson, Louise V. B., Raffelsberger, Thomas, Ivanova, Silva, Hoger, Harald, Bittner, Reginald E., Bushby, Kate, Bashir, Rumaisa
Publikováno v:
NeuroReport; 3/5/2001, Vol. 12 Issue 3, p625-629, 5p