Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. (Q37300276)

19 August 2017

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. (English)

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19 August 2017

reducing body myopathy

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Kevin M Flanigan

21

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Christina A. Mitchell

object named as

Christina A Mitchell

20

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Roberta Battini

object named as

Roberta Battini

4

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Kathryn J Swoboda

17

object named as

Kathryn J Swoboda

1 reference

19 August 2017

Joachim Schessl

1

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19 August 2017

Ana L Taratuto

2

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19 August 2017

Caroline Sewry

3

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19 August 2017

Steven S Chin

5

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19 August 2017

Baijayanta Maiti

6

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19 August 2017

Alberto L Dubrovsky

7

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19 August 2017

Marcela G Erro

8

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19 August 2017

Graciela Espada

9

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19 August 2017

Monica Robertella

10

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19 August 2017

Maria Saccoliti

11

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19 August 2017

Patricia Olmos

12

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19 August 2017

Leslie R Bridges

13

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19 August 2017

Peter Standring

14

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19 August 2017

Ying Hu

15

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19 August 2017

Yaqun Zou

16

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19 August 2017

Mena Scavina

18

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19 August 2017

Hans-Hilmar Goebel

19

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19 August 2017

Francesco Muntoni

22

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19 August 2017

Carsten G Bönnemann

23

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19 August 2017

language of work or name

English

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publication date

29 January 2009

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19 August 2017

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19 August 2017

132

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19 August 2017

Pt 2

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19 August 2017

452-464

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19 August 2017

Myofibrillar myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Familial reducing body myopathy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

The LIM domain: from the cytoskeleton to the nucleus

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Characterization of tissue-specific LIM domain protein (FHL1C) which is an alternatively spliced isoform of a human LIM-only protein (FHL1)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Aggresomes, inclusion bodies and protein aggregation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Characterization of two isoforms of the skeletal muscle LIM protein 1, SLIM1. Localization of SLIM1 at focal adhesions and the isoform slimmer in the nucleus of myoblasts and cytoplasm of myotubes suggests distinct roles in the cytoskeleton and [...]

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Pericentrin, a highly conserved centrosome protein involved in microtubule organization

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

6 September 2017

DeLIMiting development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Structure and function of LIM domains

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

26 June 2018

Reducing body myopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Identification of gamma-tubulin, a new member of the tubulin superfamily encoded by mipA gene of Aspergillus nidulans.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Novel cysteine-rich motif and homeodomain in the product of the Caenorhabditis elegans cell lineage gene lin-11.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Gamma-tubulin is a centrosomal protein required for cell cycle-dependent microtubule nucleation

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Nucleolar characteristics of reducing bodies in reducing body myopathy.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Cytoplasmic dynein/dynactin mediates the assembly of aggresomes

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Reducing bodies in distal myopathy with rimmed vacuole formation

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Unfolded protein response and aggresome formation in hereditary reducing-body myopathy

20 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724920

Ultrastructural detection of DNA fragmentation in myonuclei of fatal reducing body myopathy

3 December 2018

1 reference

12 December 2020

Congenital myopathy with ?reducing bodies? in muscle fibres

1 reference

12 December 2020

Reducing body myopathy--ultrastructure and classification (author's transl)

1 reference

12 December 2020

[Granular body myopathy (so-called reducing body myopathy)]

1 reference

12 December 2020

A benign form of reducing body myopathy

1 reference

12 December 2020

New observations in reducing body myopathy

1 reference

12 December 2020

A unique case of reducing body myopathy

1 reference

12 December 2020

Reducing body myopathy--a case report

1 reference

12 December 2020

Fatal reducing body myopathy. Ultrastructural and immunohistochemical observations

1 reference

12 December 2020

1 reference

12 December 2020

Familial mixed congenital myopathy with rigid spine phenotype

1 reference

12 December 2020

Adult onset reducing body myopathy

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWN325

1 reference

19 August 2017

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19 August 2017

PubMed publication ID

19181672

1 reference