Works matching DE "MEROSIN"

Results: 10

Mesoangioblast delivery of miniagrin ameliorates murine model of merosin-deficient congenital muscular dystrophy type 1A.

Published in:

Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0055-5

By:

Domi, Teuta;
Porrello, Emanuela;
Velardo, Daniele;
Capotondo, Alessia;
Biffi, Alessandra;
Tonlorenzi, Rossana;
Amadio, Stefano;
Ambrosi, Alessandro;
Yuko Miyagoe-Suzuki;
Shin'ichi Takeda;
Ruegg, Markus A.;
Previtali, Stefano Carlo

Publication type:

Article

A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy.

Published in:

PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172648

By:

Smith, Sarah J.;
Wang, Jeffrey C.;
Gupta, Vandana A.;
Dowling, James J.

Publication type:

Article

Tailor-made management of thoracic scoliosis with cervical hyperextension in muscular dystrophy.

Published in:

2018

By:

Angelliaume, A.;
Harper, L.;
Lalioui, A.;
Delgove, A.;
Lefèvre, Y.

Publication type:

journal article

Natural disease history of the dy<sup>2J</sup> mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy.

Published in:

PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197388

By:

Pasteuning-Vuhman, S.;
Putker, K.;
Tanganyika-de Winter, C. L.;
Boertje-van der Meulen, J. W.;
van Vliet, L.;
Overzier, M.;
Plomp, J. J.;
Aartsma-Rus, A.;
van Putten, M.

Publication type:

Article

A case series of general anesthesia in children with laminin alpha2 (merosin)-deficient congenital muscular dystrophy.

Published in:

Pediatric Anesthesia, 2014, v. 24, n. 4, p. 464, doi. 10.1111/pan.12378

By:

Scrivener, Timothy A.;
Ross, Stuart M.;
Street, Neil E.;
Webster, Richard I.;
De Lima, Jonathan C.

Publication type:

Article

Novel LAMA2 variants identified in a patient with white matter abnormalities.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0103-5

By:

Yamamoto-Shimojima, Keiko;
Ono, Hiroaki;
Imaizumi, Taichi;
Yamamoto, Toshiyuki

Publication type:

Article

A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish.

Published in:

PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043794

By:

Gupta, Vandana A.;
Kawahara, Genri;
Myers, Jennifer A.;
Chen, Aye T.;
Hall, Thomas E.;
Manzini, M. Chiara;
Currie, Peter D.;
Yi Zhou;
Zon, Leonard I.;
Kunkel, Louis M.;
Beggs, Alan H.;
Cohn, Ronald

Publication type:

Article

Targeted next generation sequencing reveals a novel intragenic deletion of the LAMA2 gene in a patient with congenital muscular dystrophy.

Published in:

Molecular Medicine Reports, 2015, v. 11, n. 5, p. 3687, doi. 10.3892/mmr.2014.3135

By:

YUN YANG;
BING MAO;
LIXIA WANG;
LIANGWEI MAO;
AIFEN ZHOU;
JIANGXIA CAO;
JIASHENG HU;
YAN ZHOU;
YANHONG PAN;
XIAOMING WEI;
SHUANG YANG;
FENG MU;
ZHISHENG LIU

Publication type:

Article

Merosin-deficient congenital muscular dystrophy type 1A: A case report.

Published in:

2013

By:

ZHANWEN HE;
XIANGYANG LUO;
LIYANG LIANG;
PINGGAN LI;
DONGFANG LI;
MENG ZHE

Publication type:

Case Study

Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report.

Published in:

Biomedical Reports, 2017, v. 7, n. 2, p. 193, doi. 10.3892/br.2017.935

By:

YINGYIN LIANG;
GUIDIAN LI;
SONGLIN CHEN;
RONGXING HE;
XIANGXUE ZHOU;
YINGMING CHEN;
XUE XU;
RONGLAN ZHU;
CHENG ZHANG

Publication type:

Article