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P.1.10 siRNA-mediated allele-specific silencing of a dominant negative COL6A3 mutation causing Ullrich Congenital muscular dystrophy
Neuromuscular Disorders
◽
10.1016/j.nmd.2013.06.394
◽
2013
◽
Vol 23
(9-10)
◽
pp. 744
Author(s):
V. Bolduc
◽
Y. Zou
◽
C.G. Bonnemann
Keyword(s):
Muscular Dystrophy
◽
Congenital Muscular Dystrophy
◽
Dominant Negative
◽
Ullrich Congenital Muscular Dystrophy
◽
Allele Specific
Download Full-text
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143. Allele-Specific Silencing of a Dominant-Negative Mutation Using siRNA or LNA Antisense Oligonucleotides Alleviates the Phenotype in a Cellular Model of Ullrich Congenital Muscular Dystrophy
Molecular Therapy
◽
10.1016/s1525-0016(16)35156-5
◽
2014
◽
Vol 22
◽
pp. S54
Keyword(s):
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◽
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◽
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Dominant Negative
◽
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◽
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Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts
Molecular Therapy — Nucleic Acids
◽
10.1038/mtna.2014.22
◽
2014
◽
Vol 3
◽
pp. e171
◽
Cited By ~ 9
Author(s):
Satoru Noguchi
◽
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◽
Genri Kawahara
◽
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◽
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Keyword(s):
Muscular Dystrophy
◽
Gene Silencing
◽
Congenital Muscular Dystrophy
◽
Cellular Function
◽
Specific Gene
◽
Ullrich Congenital Muscular Dystrophy
◽
Allele Specific
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COL6A1 related muscular dystrophy in Landseer dogs – a canine model for Ullrich congenital muscular dystrophy
Muscle & Nerve
◽
10.1002/mus.27162
◽
2020
◽
Author(s):
Jan Brands
◽
Frank Steffen
◽
Jochen Spennes
◽
Tosso Leeb
◽
Thomas Bilzer
Keyword(s):
Muscular Dystrophy
◽
Congenital Muscular Dystrophy
◽
Canine Model
◽
Ullrich Congenital Muscular Dystrophy
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A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy
Neuromuscular Disorders
◽
10.1016/j.nmd.2017.06.055
◽
2017
◽
Vol 27
◽
pp. S106
Author(s):
A. Reghan Foley
◽
S. Donkervoort
◽
V. Bolduc
◽
Y. Hu
◽
B. Cummings
◽
...
Keyword(s):
Muscular Dystrophy
◽
Congenital Muscular Dystrophy
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Distinct Phenotype
◽
Ullrich Congenital Muscular Dystrophy
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Ullrich Congenital Muscular Dystrophy (Ullrich disease)
Encyclopedia of Genetics, Genomics, Proteomics and Informatics
◽
10.1007/978-1-4020-6754-9_17718
◽
2008
◽
pp. 2059-2059
Keyword(s):
Muscular Dystrophy
◽
Congenital Muscular Dystrophy
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Ullrich Congenital Muscular Dystrophy
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Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study
Journal of Child Neurology
◽
10.1177/0883073817738466
◽
2017
◽
Vol 32
(14)
◽
pp. 1099-1103
Author(s):
Biswaroop Chakrabarty
◽
M. C. Sharma
◽
Sheffali Gulati
◽
Chitra Sarkar
Keyword(s):
Muscular Dystrophy
◽
Observational Study
◽
Skin Biopsy
◽
Congenital Muscular Dystrophy
◽
Ullrich Congenital Muscular Dystrophy
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C.P.2.06 Spectrum of COL6A1 mutations in patients with Ullrich congenital muscular dystrophy
Neuromuscular Disorders
◽
10.1016/j.nmd.2007.06.282
◽
2007
◽
Vol 17
(9-10)
◽
pp. 845
Author(s):
P. Richard
◽
C. Ledeuil
◽
C. Gartioux
◽
L. Torrieri
◽
L. Briñas
◽
...
Keyword(s):
Muscular Dystrophy
◽
Congenital Muscular Dystrophy
◽
Ullrich Congenital Muscular Dystrophy
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Mouse model of dominant Ullrich congenital muscular dystrophy (UCMD)
Science-Business eXchange
◽
10.1038/scibx.2014.382
◽
2014
◽
Vol 7
(13)
◽
pp. 382-382
Keyword(s):
Muscular Dystrophy
◽
Mouse Model
◽
Congenital Muscular Dystrophy
◽
Ullrich Congenital Muscular Dystrophy
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Successful Heart Transplantation From a Donor With Ullrich Congenital Muscular Dystrophy
American Journal of Transplantation
◽
10.1111/ajt.12246
◽
2013
◽
Vol 13
(7)
◽
pp. 1915-1917
◽
Cited By ~ 2
Author(s):
C. Plonka
◽
P. D. Wearden
◽
V. O. Morell
◽
S. A. Miller
◽
S. A. Webber
◽
...
Keyword(s):
Muscular Dystrophy
◽
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◽
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Ullrich Congenital Muscular Dystrophy
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Genetic and functional differences between Bethlem miopathyand Ullrich congenital muscular dystrophy – case studies
Cadernos de Pós-Graduação em Distúrbios do Desenvolvimento
◽
10.5935/cadernosdisturbios.v18n1p148-163
◽
2018
◽
Vol 18
(1)
◽
Author(s):
Juliana Aparecida Rhein Telles
◽
Mariana Calil Voos
◽
Isabella Pessa Anequini
◽
Francis Meire Favero
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Congenital Muscular Dystrophy
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Functional Differences
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Ullrich Congenital Muscular Dystrophy
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