1 |
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.
6
61
|
Armel TZ...Leinwand LA
|
19336582 |
2009 |
2 |
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.
61
6
|
Uro-Coste E...Delisle MB
|
19138847 |
2009 |
3 |
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.
61
6
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Pegoraro E...Angelini C
|
17336526 |
2007 |
4 |
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.
6
61
|
Dye DE...Laing NG
|
16684601 |
2006 |
5 |
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.
6
61
|
Laing NG...Goebel HH
|
15699387 |
2005 |
6 |
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
6
61
|
Oldfors A...Thornell LE
|
15699411 |
2005 |
7 |
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
6
61
|
Bohlega S...Meyer BF
|
15136674 |
2004 |
8 |
Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.
61
6
|
Bohlega S...Cupler EJ
|
14663035 |
2003 |
9 |
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.
6
61
|
Tajsharghi H...Oldfors A
|
14520662 |
2003 |
10 |
Familial myopathy with probable lysis of myofibrils in type I fibers.
6
|
Cancilla PA...Pearson CM
|
4104682 |
1971 |
11 |
Impaired muscle morphology in a Drosophila model of myosin storage myopathy was supressed by overexpression of an E3 ubiquitin ligase.
61
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Dahl-Halvarsson M...Tajsharghi H
|
33234710 |
2020 |
12 |
Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype.
61
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Alessi CE...Felice KJ
|
32833721 |
2020 |
13 |
Congenital myopathies: an update.
61
|
Claeys KG
|
31578728 |
2020 |
14 |
Recessive MYH7-related myopathy in two families.
61
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Beecroft SJ...Jungbluth H
|
31130376 |
2019 |
15 |
A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report.
61
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Mamelona J...Marrero A
|
31068177 |
2019 |
16 |
MYH7 mutation associated with two phenotypes of myopathy.
61
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Li N...Hu J
|
29170849 |
2018 |
17 |
Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.
61
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Viswanathan MC...Bernstein SI
|
28973424 |
2017 |
18 |
Research progress of myosin heavy chain genes in human genetic diseases.
61
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He YM...Gu MM
|
29070483 |
2017 |
19 |
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.
61
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Banfai Z...Melegh B
|
28927399 |
2017 |
20 |
Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.
61
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Dahl-Halvarsson M...Tajsharghi H
|
28125727 |
2017 |
21 |
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
61
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Kitamura Y...Saito K
|
27357428 |
2016 |
22 |
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.
61
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Fiorillo C...Italian Network on Congenital Myopathies
|
27387980 |
2016 |
23 |
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
61
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Olive M...Tajsharghi H
|
25801283 |
2015 |
24 |
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.
61
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Yuceyar N...Tolun A
|
25666907 |
2015 |
25 |
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
61
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Lamont PJ...Laing NG
|
24664454 |
2014 |
26 |
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.
61
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Clarke NF...Dowling JJ
|
23478172 |
2013 |
27 |
[Myofibrillar myopaathy].
61
|
Hayashi Y
|
24291893 |
2013 |
28 |
Myosinopathies: pathology and mechanisms.
61
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Tajsharghi H...Oldfors A
|
22918376 |
2013 |
29 |
Protein aggregation in congenital myopathies.
61
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Goebel HH...Blaschek A
|
22172423 |
2011 |
30 |
Scoliosis surgery in a patient with "de novo" myosin storage myopathy.
61
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Stalpers X...Mostert A
|
21723124 |
2011 |
31 |
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.
61
|
Ortolano S...Sobrido MJ
|
21288719 |
2011 |
32 |
MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies.
61
|
Stramare R...Feltrin GP
|
20177980 |
2010 |
33 |
[Myosin storage myopathy: a rare subtype of protein aggregate myopathies].
61
|
Kiphuth IC...Schroder R
|
20376763 |
2010 |
34 |
Congenital myopathies.
61
|
D'Amico A...Bertini E
|
18367042 |
2008 |
35 |
Thick filament diseases.
61
|
Oldfors A...Lamont PJ
|
19181095 |
2008 |
36 |
Myosin storage myopathy with cardiomyopathy.
61
|
Tajsharghi H...Swash M
|
17588755 |
2007 |
37 |
Congenital myopathies.
61
|
Laing NG
|
17885449 |
2007 |
38 |
Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation.
61
|
Overeem S...Zwarts MJ
|
17383184 |
2007 |
39 |
Hereditary myosin myopathies.
61
|
Oldfors A
|
17434305 |
2007 |
40 |
Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.
61
|
Tajsharghi H...Swash M
|
17372140 |
2007 |
41 |
Myosin storage (hyaline body) myopathy: a case report.
61
|
Shingde MV...North KN
|
17118657 |
2006 |
42 |
Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy.
61
|
Lamont PJ...Laing NG
|
16103042 |
2006 |
43 |
Electron microscopy in neuromuscular disorders.
61
|
Fernandez C...Pellissier JF
|
16316944 |
2005 |
44 |
Hyaline body myopathy: adulthood manifestations.
61
|
Rafay MF...Bril V
|
16018165 |
2005 |
45 |
Myopathies resulting from mutations in sarcomeric proteins.
61
|
Bonnemann CG...Laing NG
|
15367857 |
2004 |
46 |
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).
61
|
Meredith C...Laing NG
|
15322983 |
2004 |
47 |
Myopathies associated with myosin heavy chain mutations.
61
|
Oldfors A...Lindberg C
|
15605950 |
2004 |
48 |
Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32.
61
|
Onengut S...Tolun A
|
14659406 |
2004 |
49 |
Protein surplus myopathies and other rare congenital myopathies.
61
|
Goebel HH...Borchert A
|
12139000 |
2002 |
50 |
Surplus protein myopathies.
61
|
Goebel HH...Warlo IA
|
11166159 |
2001 |