1 |
Cap disease due to mutation of the beta-tropomyosin gene (TPM2).
62
57
5
|
Clarke NF...North KN
|
19345583 |
2009 |
2 |
New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.
62
57
5
|
Ohlsson M...Tajsharghi H
|
19047562 |
2008 |
3 |
Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).
62
57
5
|
Tajsharghi H...Oldfors A
|
17846275 |
2007 |
4 |
Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.
62
57
5
|
Lehtokari VL...Wallgren-Pettersson C
|
17434307 |
2007 |
5 |
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
57
5
|
Mokbel N...Clarke NF
|
23378224 |
2013 |
6 |
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
57
5
|
Davidson AE...Dowling JJ
|
23413262 |
2013 |
7 |
Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.
57
5
|
Donner K...Wallgren-Pettersson C
|
11738357 |
2002 |
8 |
"Cap disease": new congenital myopathy.
62
57
|
Fidzianska A...Dembek I
|
7196531 |
1981 |
9 |
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
5
|
Marinakis NM...Traeger-Synodinos J
|
34008892 |
2021 |
10 |
A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I.
5
|
Jin JY...Xiang R
|
31966463 |
2017 |
11 |
Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.
5
|
Vill K...Muller-Felber W
|
29172004 |
2017 |
12 |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
5
|
Punetha J...Hoffman EP
|
27854218 |
2016 |
13 |
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.
5
|
Citirak G...Vissing J
|
24507666 |
2014 |
14 |
Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.
5
|
Marston S...Lehman W
|
23886664 |
2013 |
15 |
Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures.
5
|
Tasca G...Silvestri G
|
23015096 |
2013 |
16 |
Mutations in TPM2 and congenital fibre type disproportion.
5
|
Clarke NF...North KN
|
22832343 |
2012 |
17 |
[MEN for multiple endocrin neoplasms: When evokate MEN? Update 2022].
62
|
Duval M...Haissaguerre M
|
36307322 |
2022 |
18 |
Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern.
62
|
Bevilacqua JA...Romero NB
|
35688744 |
2022 |
19 |
Pretreatment visceral metastases in castration resistant metastatic prostate cancer: role in prediction versus actual site of disease progression.
62
|
Ruchalski K...Goldin J
|
35836271 |
2022 |
20 |
Markov State Modelling of Disease Courses and Mortality Risks of Patients with Community-Acquired Pneumonia.
62
|
Przybilla J...Scholz M
|
32121038 |
2020 |
21 |
Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene.
62
|
Ma Y...Gai Z
|
31526942 |
2019 |
22 |
Relative Clinical and Cost Burden of Community-Acquired Pneumonia Hospitalizations in Older Adults in the United States-A Cross-Sectional Analysis.
62
|
Olasupo O...Brown JD
|
30200286 |
2018 |
23 |
The reason for the low Ca2+-sensitivity of thin filaments associated with the Glu41Lys mutation in the TPM2 gene is "freezing" of tropomyosin near the outer domain of actin and inhibition of actin monomer switching off during the ATPase cycle.
62
|
Avrova SV...Borovikov YS
|
29792862 |
2018 |
24 |
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.
62
|
Mroczek M...Kochanski A
|
27726070 |
2017 |
25 |
Complication of Community-Acquired Pneumonia (Including Cardiac Complications).
62
|
Restrepo MI...Anzueto A
|
27960213 |
2016 |
26 |
Improving outcomes in community-acquired pneumonia.
62
|
Bender MT...Niederman MS
|
26859379 |
2016 |
27 |
[The three-category classification of severe acute pancreatitis: a single-center pilot study].
62
|
Wu D...Qian J
|
25623558 |
2014 |
28 |
ROBO1, a tumor suppressor and critical molecular barrier for localized tumor cells to acquire invasive phenotype: study in African-American and Caucasian prostate cancer models.
62
|
Parray A...Saleem M
|
24752651 |
2014 |
29 |
Corticosteroids in the treatment of severe community-acquired pneumonia.
62
|
Ramsey TD...Gorman SK
|
24817026 |
2014 |
30 |
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.
62
|
Malfatti E...Romero NB
|
24095155 |
2013 |
31 |
Mechanism of recruitment and activation of the endosome-associated deubiquitinase AMSH.
62
|
Davies CW...Das C
|
24151880 |
2013 |
32 |
Community-acquired pneumonia.
62
|
Irfan M...Hasan R
|
23422417 |
2013 |
33 |
BMI1 polycomb group protein acts as a master switch for growth and death of tumor cells: regulates TCF4-transcriptional factor-induced BCL2 signaling.
62
|
Siddique HR...Saleem M
|
23671559 |
2013 |
34 |
Myopathies associated with β-tropomyosin mutations.
62
|
Tajsharghi H...Oldfors A
|
22749895 |
2012 |
35 |
Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene.
62
|
Robaszkiewicz K...Moraczewska J
|
22749829 |
2012 |
36 |
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.
62
|
Jarraya M...Carlier RY
|
22980765 |
2012 |
37 |
Protein aggregation in congenital myopathies.
62
|
Goebel HH...Blaschek A
|
22172423 |
2011 |
38 |
Ten-year outcomes: the clinical utility of single photon emission computed tomography/computed tomography capromab pendetide (Prostascint) in a cohort diagnosed with localized prostate cancer.
62
|
Ellis RJ...Bodner D
|
20961696 |
2011 |
39 |
[Congenital myopathies - skeletal muscle diseases related to disorder of actin filament structure and functions].
62
|
Robaszkiewicz K...Moraczewska J
|
21677359 |
2011 |
40 |
Angiogenesis as a strategic target for prostate cancer therapy.
62
|
Li Y...Cozzi PJ
|
19536866 |
2010 |
41 |
A TPM3 mutation causing cap myopathy.
62
|
De Paula AM...Pouget J
|
19553118 |
2009 |
42 |
RHAMM (CD168) is overexpressed at the protein level and may constitute an immunogenic antigen in advanced prostate cancer disease.
62
|
Gust KM...Ringhoffer M
|
19724689 |
2009 |
43 |
TPM3 mutation in one of the original cases of cap disease.
62
|
Ohlsson M...Oldfors A
|
19487656 |
2009 |
44 |
[Familial pituitary adenomas].
62
|
Burlacu MC...Beckers A
|
18990538 |
2009 |
45 |
Genetic variation for resistance to ergot (Claviceps purpurea [Fr.] Tul.) among full-sib families of five populations of winter rye (Secale cereale L.).
62
|
Mirdita V...Miedaner T
|
18797841 |
2008 |
46 |
Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.
62
|
Ochala J
|
18574571 |
2008 |
47 |
The role of extracellular matrix metalloproteinase inducer protein in prostate cancer progression.
62
|
Madigan MC...Li Y
|
18273614 |
2008 |
48 |
Residual prostate cancer after radiotherapy: a study of radical cystoprostatectomy specimens.
62
|
Kaplan DJ...Uzzo RG
|
18289645 |
2008 |
49 |
Tropomyosins in skeletal muscle diseases.
62
|
Kee AJ...Hardeman EC
|
19209820 |
2008 |
50 |
Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.
62
|
Clarke NF
|
19181092 |
2008 |