Search details
1.
Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species.
Cell
; 184(19): 4919-4938.e22, 2021 09 16.
Article
in English
| MEDLINE | ID: mdl-34506722
2.
Sarcomeres regulate murine cardiomyocyte maturation through MRTF-SRF signaling.
Proc Natl Acad Sci U S A
; 118(2)2021 01 12.
Article
in English
| MEDLINE | ID: mdl-33361330
3.
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Am J Hum Genet
; 95(2): 218-26, 2014 Aug 07.
Article
in English
| MEDLINE | ID: mdl-25087613
4.
Selenoprotein N deficiency in mice is associated with abnormal lung development.
FASEB J
; 27(4): 1585-99, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23325319
5.
Zebrafish and cellular models of SELENON-Related Myopathy exhibit novel embryonic and metabolic phenotypes.
bioRxiv
; 2024 Feb 26.
Article
in English
| MEDLINE | ID: mdl-38464009
6.
Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex.
J Cachexia Sarcopenia Muscle
; 15(3): 1003-1015, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38725372
7.
Adenylosuccinic Acid: An Orphan Drug with Untapped Potential.
Pharmaceuticals (Basel)
; 16(6)2023 May 31.
Article
in English
| MEDLINE | ID: mdl-37375769
8.
Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex.
bioRxiv
; 2023 Apr 24.
Article
in English
| MEDLINE | ID: mdl-37162921
9.
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
Hum Mutat
; 31(2): 176-83, 2010 Feb.
Article
in English
| MEDLINE | ID: mdl-19953533
10.
Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction.
Biochemistry
; 49(1): 166-78, 2010 Jan 12.
Article
in English
| MEDLINE | ID: mdl-19943616
11.
Sarcomeric and nonmuscle α-actinin isoforms exhibit differential dynamics at skeletal muscle Z-lines.
Cytoskeleton (Hoboken)
; 75(5): 213-228, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29518289
12.
Adult-onset nemaline myopathy and monoclonal gammopathy.
Arch Neurol
; 63(1): 132-4, 2006 Jan.
Article
in English
| MEDLINE | ID: mdl-16401746
13.
X-linked myotubular and centronuclear myopathies.
J Neuropathol Exp Neurol
; 64(7): 555-64, 2005 Jul.
Article
in English
| MEDLINE | ID: mdl-16042307
14.
X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.
Skelet Muscle
; 5(1): 1, 2015.
Article
in English
| MEDLINE | ID: mdl-25664165
15.
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).
Neuromuscul Disord
; 12(7-8): 631-8, 2002 Oct.
Article
in English
| MEDLINE | ID: mdl-12207930
16.
Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis.
Muscle Nerve
; 39(6): 739-53, 2009 Jun.
Article
in English
| MEDLINE | ID: mdl-19291799
17.
Selenoproteins and their impact on human health through diverse physiological pathways.
Physiology (Bethesda)
; 21: 307-15, 2006 Oct.
Article
in English
| MEDLINE | ID: mdl-16990451
18.
Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern.
Hum Mol Genet
; 12(9): 1045-53, 2003 May 01.
Article
in English
| MEDLINE | ID: mdl-12700173
19.
Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy.
Ann Neurol
; 56(1): 133-8, 2004 Jul.
Article
in English
| MEDLINE | ID: mdl-15236412
20.
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
Am J Hum Genet
; 70(6): 1446-58, 2002 Jun.
Article
in English
| MEDLINE | ID: mdl-11992252