A Roma founder mutation causes a novel phenotype of centronuclear myopathy with rigid spine (Q62672007)

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scientific article published on 27 June 2018

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

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English	A Roma founder mutation causes a novel phenotype of centronuclear myopathy with rigid spine	scientific article published on 27 June 2018	A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29950440%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29950440%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

centronuclear myopathy

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Macarena Cabrera Serrano

1

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3 April 2020

5

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3 April 2020

7

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3 April 2020

Cristina Dominguez-Gonzalez

15

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3 April 2020

22

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3 April 2020

Luba Kalaydjieva

21

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Luba Kalaydjieva

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3 April 2020

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Fabiola Mavillard

2

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3 April 2020

Valerie Biancalana

3

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3 April 2020

Eloy Rivas

4

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3 April 2020

Aurelio Hernández-Laín

6

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3 April 2020

Nuria Muelas

8

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3 April 2020

Eduardo Khan

9

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3 April 2020

Alejandra Carvajal

10

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3 April 2020

Pablo Quiroga

11

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3 April 2020

Jordi Diaz-Manera

12

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3 April 2020

Mark Davis

13

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3 April 2020

Rainiero Ávila

14

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3 April 2020

Norma Beatriz Romero

16

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3 April 2020

Juan J Vílchez

17

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3 April 2020

David Comas

18

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3 April 2020

Nigel G Laing

19

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3 April 2020

Jocelyn Laporte

20

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3 April 2020

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publication date

27 June 2018

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3 April 2020

1 reference

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3 April 2020

91

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3 April 2020

4

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3 April 2020

e339-e348

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3 April 2020

Myotonia in centronuclear myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Origins and divergence of the Roma (gypsies)

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation history of the roma/gypsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A newly discovered founder population: the Roma/Gypsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The BAR domain proteins: molding membranes in fission, fusion, and phagy

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The BAR domain superfamily: membrane-molding macromolecules

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Centronuclear myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myotonia in DNM2-related centronuclear myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amphiphysin 2 (BIN1) in physiology and diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Implications of population history of European Romani on genetic susceptibility to disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathogenic mechanisms in centronuclear myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton

1 reference

https://pubmed.ncbi.nlm.nih.gov/29950440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1212/WNL.0000000000005862

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29950440%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29950440%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29950440%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

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