(Q85237807)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

title

Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

left ventricular noncompaction

15 February 2020

main subject

1 reference

Bo Chang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Tsutomu Nishizawa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Michiko Furutani

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Akira Fujiki

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Masanao Tani

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Makoto Kawaguchi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Keijiro Ibuki

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Keiichi Hirono

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Hiromichi Taneichi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Keiichiro Uese

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Yoshiko Onuma

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Neil E Bowles

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Fukiko Ichida

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Hiroshi Inoue

14

1 reference

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15 February 2020

Rumiko Matsuoka

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Toshio Miyawaki

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Noncompaction study collaborators

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

publication date

29 September 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

15 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

volume

102

1 reference

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15 February 2020

issue

2

1 reference

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15 February 2020

page(s)

200-206

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

Isolated noncompaction of left ventricular myocardium. A study of eight cases

15 February 2020

cites work

1 reference

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Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis

7 January 2021

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Isolated noncompaction of the myocardium

7 January 2021

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Isolated noncompaction of the myocardium in adults

7 January 2021

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Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy

7 January 2021

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Isolated ventricular non-compaction of the myocardium in adults

7 January 2021

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Primary noncompaction of the ventricular myocardium from the morphogenetic standpoint

7 January 2021

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Left ventricular noncompaction and cardiomyopathy: cause, contributor, or epiphenomenon?

7 January 2021

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Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome

7 January 2021

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Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

7 January 2021

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Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12.

7 January 2021

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Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction

7 January 2021

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Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity

7 January 2021

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Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

7 January 2021

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Mutations in sarcomere protein genes in left ventricular noncompaction

7 January 2021

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SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia

7 January 2021

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Structural aspects of troponin-tropomyosin regulation of skeletal muscle contraction

7 January 2021

1 reference

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The molecular basis for tropomyosin isoform diversity

7 January 2021

1 reference

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Tropomyosin isoforms in nonmuscle cells.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.009

Vertebrate tropomyosin: distribution, properties and function

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.009

Tropomyosin isoforms: divining rods for actin cytoskeleton function

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.009

Tropomyosin-based regulation of the actin cytoskeleton in time and space

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.009

Effect of actin C-terminal modification on tropomyosin isoforms binding and thin filament regulation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.009

Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.009

Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy

7 January 2021

1 reference

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Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene

7 January 2021

1 reference

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Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis

7 January 2021

1 reference

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Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy

7 January 2021

1 reference

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Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

7 January 2021

1 reference

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Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy

7 January 2021

1 reference

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Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy

7 January 2021

1 reference

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Novel mutation in the alpha-tropomyosin gene and transition from hypertrophic to hypocontractile dilated cardiomyopathy.

7 January 2021

1 reference

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Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy

7 January 2021

1 reference

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Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

7 January 2021

1 reference

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Diastolic ventricular dysfunction as a marker for hypertrophic cardiomyopathy in a family with a novel alpha-tropomyosin mutation

7 January 2021

1 reference

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Shared genetic causes of cardiac hypertrophy in children and adults

7 January 2021

1 reference

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Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene

7 January 2021

1 reference

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Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies

7 January 2021

1 reference

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7 January 2021

1 reference

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7 January 2021

1 reference

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Long-term evolution of right ventricular dysplasia-cardiomyopathy. The Heart Muscle Disease Study Group

7 January 2021

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7 January 2021

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7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.009

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7 January 2021

1 reference

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10.1016/J.YMGME.2010.09.009

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20965760%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference