ScienceGate
Advanced Search
Author Search
Journal Finder
Blog
Sign in / Sign up
ScienceGate
Search
Author Search
Journal Finder
Blog
Sign in / Sign up
Anesthesia and Ullrich Congenital Muscular Dystrophy
Anesthesiology
◽
10.1097/aln.0000000000003698
◽
2021
◽
Vol Publish Ahead of Print
◽
Author(s):
Francis Veyckemans
Keyword(s):
Muscular Dystrophy
◽
Congenital Muscular Dystrophy
◽
Ullrich Congenital Muscular Dystrophy
Download Full-text
Related Documents
Cited By
References
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
Download Full-text
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
◽
Distinct Phenotype
◽
Ullrich Congenital Muscular Dystrophy
Download Full-text
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
◽
Ullrich Congenital Muscular Dystrophy
Download Full-text
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
Download Full-text
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
Download Full-text
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
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
Download Full-text
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
◽
Heart Transplantation
◽
Congenital Muscular Dystrophy
◽
Ullrich Congenital Muscular Dystrophy
Download Full-text
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
◽
Thiago Henrique Silva
◽
...
Keyword(s):
Muscular Dystrophy
◽
Case Studies
◽
Congenital Muscular Dystrophy
◽
Functional Differences
◽
Ullrich Congenital Muscular Dystrophy
Download Full-text
New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype
The American Journal of Human Genetics
◽
10.1086/377107
◽
2003
◽
Vol 73
(2)
◽
pp. 355-369
◽
Cited By ~ 102
Author(s):
Te-Cheng Pan
◽
Rui-Zhu Zhang
◽
Dominick G. Sudano
◽
Suely K. Marie
◽
Carsten G. Bönnemann
◽
...
Keyword(s):
Muscular Dystrophy
◽
Molecular Mechanism
◽
Congenital Muscular Dystrophy
◽
Severe Phenotype
◽
Ullrich Congenital Muscular Dystrophy
Download Full-text
Sign in / Sign up
Close
Export Citation Format
Close
Share Document
Close