(Q53061543)

11 May 2018

title

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). (English)

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11 May 2018

limb-girdle muscular dystrophy

main subject

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6

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Vincenzo Nigro

15

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11 May 2018

Maya Schuldiner

17

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11 May 2018

Adriana Mimbacas

object named as

Adriana Mimbacas

14

0 references

Mayana Zatz

19

object named as

Mayana Zatz

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11 May 2018

2

Michel S Naslavsky

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11 May 2018

https://orcid.org/0000-0002-9068-1713

author name string

Natássia M Vieira

1

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11 May 2018

Luciana Licinio

3

1 reference

11 May 2018

Fernando Kok

4

1 reference

11 May 2018

David Schlesinger

5

1 reference

11 May 2018

Nury Sanchez

7

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11 May 2018

João Paulo Kitajima

8

1 reference

11 May 2018

Lihi Gal

9

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11 May 2018

Natale Cavaçana

10

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11 May 2018

Peter R Serafini

11

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11 May 2018

Silvia Chuartzman

12

1 reference

11 May 2018

Cristina Vasquez

13

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11 May 2018

Rita C Pavanello

16

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11 May 2018

Louis M Kunkel

18

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11 May 2018

publication date

18 March 2014

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11 May 2018

published in

Human Molecular Genetics

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11 May 2018

volume

23

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11 May 2018

issue

15

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11 May 2018

page(s)

4103-4110

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11 May 2018

Update on the genetics of limb girdle muscular dystrophy

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

The 10 autosomal recessive limb-girdle muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

Systematic genetic analysis with ordered arrays of yeast deletion mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

Advanced methods for high-throughput microscopy screening of genetically modified yeast libraries

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

Global analysis of protein localization in budding yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

Identification of the nucleocytoplasmic shuttling sequence of heterogeneous nuclear ribonucleoprotein D-like protein JKTBP and its interaction with mRNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

Structural basis for substrate recognition and dissociation by human transportin 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

HnRNP G and Tra2beta: opposite effects on splicing matched by antagonism in RNA binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

The evolutionarily conserved RNA binding protein SMOOTH is essential for maintaining normal muscle function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

Modeling human muscle disease in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

Functional profiling of the Saccharomyces cerevisiae genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

A novel single-cell screening platform reveals proteome plasticity during yeast stress responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU127

21 January 2018

Identifiers

DOI

10.1093/HMG/DDU127

1 reference

11 May 2018

PubMed ID

24647604

1 reference

11 May 2018