(Q41750961)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25957634%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25957634%20AND%20SRC:MED&resulttype=core&format=json

genotype-phenotype correlation

7 March 2020

main subject

1 reference

1

1 reference

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7 March 2020

Lorenzo Maggi

2

1 reference

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7 March 2020

Giorgio Tasca

7

1 reference

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7 March 2020

Angela Berardinelli

8

1 reference

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7 March 2020

Francesca Magri

9

1 reference

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7 March 2020

Anna Rubegni

11

1 reference

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7 March 2020

Lucio Santoro

12

1 reference

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7 March 2020

Sonia Messina

17

1 reference

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7 March 2020

Giacomo Brisca

18

1 reference

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7 March 2020

Guja Astrea

20

1 reference

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7 March 2020

Chiara Fiorillo

21

1 reference

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7 March 2020

Cinzia Bragato

22

1 reference

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7 March 2020

Marina Mora

27

1 reference

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7 March 2020

Eugenio Mercuri

34

1 reference

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7 March 2020

Filippo Maria Santorelli

35

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7 March 2020

Enrico Bertini

36

1 reference

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7 March 2020

Adele D'Amico

37

1 reference

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7 March 2020

24

Elena Pegoraro

1 reference

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7 March 2020

15

Antonella Pini

1 reference

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7 March 2020

4

Denise Cassandrini

1 reference

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7 March 2020

13

Lucia Ruggiero

1 reference

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7 March 2020

29

Alice Donati

1 reference

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7 March 2020

30

Anni Evilä

1 reference

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7 March 2020

31

Anna Vihola

1 reference

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7 March 2020

32

Bjarne Udd

1 reference

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7 March 2020

16

Tiziana Mongini

1 reference

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7 March 2020

author name string

Claudio Bruno

3

1 reference

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7 March 2020

Valentina Codemo

5

1 reference

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7 March 2020

Michela Catteruccia

6

1 reference

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7 March 2020

Marika Pane

10

1 reference

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7 March 2020

Patrizio Fiorini

14

1 reference

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7 March 2020

Irene Colombo

19

1 reference

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7 March 2020

Maria Rosaria D'Apice

25

1 reference

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7 March 2020

Enrico Alfei

26

1 reference

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7 March 2020

Lucia Morandi

28

1 reference

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7 March 2020

Pia Bernansconi

33

1 reference

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7 March 2020

Isabella Moroni

23

1 reference

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7 March 2020

publication date

10 May 2015

1 reference

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7 March 2020

1 reference

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7 March 2020

volume

262

1 reference

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7 March 2020

issue

7

1 reference

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7 March 2020

page(s)

1728-1740

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00415-015-7757-9

7 March 2020

exact match

0 references

cites work

Centronuclear myopathies: a widening concept

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7757-9

21 January 2018

Centronuclear myopathies

1 reference

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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

21 January 2018

1 reference

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Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum

21 January 2018

1 reference

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Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

21 January 2018

1 reference

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RYR1 mutations are a common cause of congenital myopathies with central nuclei

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy

21 January 2018

1 reference

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Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores

21 January 2018

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Approach to the diagnosis of congenital myopathies

21 January 2018

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

21 January 2018

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Atypical phenotypes in titinopathies explained by second titin mutations

21 January 2018

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Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7757-9

Mapping domains and mutations on the skeletal muscle ryanodine receptor channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7757-9

A rising titan: TTN review and mutation update

21 January 2018

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Clinical utility gene card for: Centronuclear and myotubular myopathies

21 January 2018

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X-linked myotubular myopathy and chylothorax

21 January 2018

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Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.

21 January 2018

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Genotype-phenotype correlations in X-linked myotubular myopathy

21 January 2018

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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

21 January 2018

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21 January 2018

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"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

21 January 2018

1 reference

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Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation

21 January 2018

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Mutations in dynamin 2 cause dominant centronuclear myopathy

21 January 2018

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Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

21 January 2018

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Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients

21 January 2018

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21 January 2018

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Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).

21 January 2018

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Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy

21 January 2018

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Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility

21 January 2018

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Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

21 January 2018

1 reference

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Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

21 January 2018

1 reference

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A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy

21 January 2018

1 reference

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Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25957634

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25957634

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25957634

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00415-015-7757-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25957634%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1 reference