1 |
Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations.
62
|
Santhoshkumar R...Narayanappa G
|
35562161 |
2022 |
2 |
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
62
|
Miyatake S...Matsumoto N
|
28017374 |
2017 |
3 |
The Effects of Disease Models of Nuclear Actin Polymerization on the Nucleus.
62
|
Serebryannyy LA...de Lanerolle P
|
27774069 |
2016 |
4 |
Severe congenital actin related myopathy with myofibrillar myopathy features.
62
|
Selcen D
|
25913210 |
2015 |
5 |
Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event.
62
|
Kawase K...Yokochi K
|
24787270 |
2015 |
6 |
[Congenital myopathies - skeletal muscle diseases related to disorder of actin filament structure and functions].
62
|
Robaszkiewicz K...Moraczewska J
|
21677359 |
2011 |
7 |
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
62
|
Laing NG...Nowak KJ
|
19562689 |
2009 |
8 |
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.
62
|
Feng JJ...Marston S
|
18976909 |
2009 |
9 |
Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.
62
|
Ochala J
|
18574571 |
2008 |
10 |
Skeletal muscle alpha-actin diseases.
62
|
North KN...Laing NG
|
19181090 |
2008 |
11 |
Mechanisms underlying intranuclear rod formation.
62
|
Domazetovska A...North KN
|
17928315 |
2007 |
12 |
Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H).
62
|
Koy A...Voit T
|
18461503 |
2007 |
13 |
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.
62
|
Domazetovska A...North KN
|
17705262 |
2007 |
14 |
Intranuclear nemaline rod myopathy.
62
|
Kaimaktchiev V...Nixon R
|
16477620 |
2006 |
15 |
Congenital myopathies: diseases of the actin cytoskeleton.
62
|
Clarkson E...Machesky LM
|
15495263 |
2004 |
16 |
Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).
62
|
Schroder JM...Laing N
|
15221331 |
2004 |
17 |
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
62
|
Ilkovski B...Cooper ST
|
15198992 |
2004 |
18 |
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
62
|
Sparrow JC...Laing NG
|
12921789 |
2003 |
19 |
Intranuclear rod myopathy, a rare and morphologically striking variant of nemaline rod myopathy.
62
|
Weeks DA...Mierau GW
|
12775505 |
2003 |
20 |
Infantile intranuclear rod myopathy.
62
|
Goebel HH...Gaude M
|
9010792 |
1997 |
21 |
Nemaline myopathy with intranuclear rods--intranuclear rod myopathy.
62
|
Goebel HH...Warlo I
|
9132135 |
1997 |