(Q44799266)

6 December 2017

title

Atypical phenotypes in titinopathies explained by second titin mutations (English)

1 reference

6 December 2017

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Ricard Rojas-Garcia

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

Anni Evilä

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Anna Vihola

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Olayinka Raheem

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Johanna Palmio

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Satu Sandell

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Bruno Eymard

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Isabel Illa

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Karolina Hankiewicz

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Luis Negrão

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Tuija Löppönen

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Pekka Nokelainen

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Mikko Kärppä

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Sini Penttilä

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Mark Screen

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Tiina Suominen

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Isabelle Richard

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Peter Hackman

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Bjarne Udd

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

publication date

24 February 2014

1 reference

6 December 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

75

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

230-240

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

Distal myopathies--new genetic entities expand diagnostic challenge

13 June 2020

cites work

1 reference

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

21 January 2018

1 reference

Tibial muscular dystrophy in a Belgian family

21 January 2018

1 reference

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

21 January 2018

1 reference

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

21 January 2018

1 reference

Muscular dystrophy with separate clinical phenotypes in a large family

21 January 2018

1 reference

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

21 January 2018

1 reference

Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies.

21 January 2018

1 reference

Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence

21 January 2018

1 reference

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.

21 January 2018

1 reference

Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies

21 January 2018

1 reference

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

21 January 2018

1 reference

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

21 January 2018

1 reference

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

21 January 2018

1 reference

Titin mutation segregates with hereditary myopathy with early respiratory failure

21 January 2018

1 reference

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.

21 January 2018

1 reference

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

21 January 2018

1 reference

Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes

21 January 2018

1 reference

Truncations of titin causing dilated cardiomyopathy.

21 January 2018

1 reference

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy

21 January 2018

1 reference

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.24102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json

release_p2fzluqth5gi7c2bkq7j5vq3aq

13 June 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/p2fzluqth5gi7c2bkq7j5vq3aq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24395473%20AND%20SRC:MED&resulttype=core&format=json