A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H (Q34329134)

1 August 2017

title

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

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autosomal dominant limb-girdle muscular dystrophy

1 August 2017

main subject

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1 August 2017

Luigi Bisceglia

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1 August 2017

Lucia Artuso

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Vittoria Petruzzella

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Massimiliano Copetti

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Filippo Maria Santorelli

object named as

Filippo Maria Santorelli

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ORCID Public Data File 2021

author name string

Stefano Zoccolella

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1 August 2017

Alessandra Torraco

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1 August 2017

Maria Rosaria Piemontese

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1 August 2017

Rosa Dell'Aglio

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1 August 2017

Angela Amati

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1 August 2017

Patrizia De Bonis

1 reference

1 August 2017

Luigi Serlenga

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1 August 2017

Leopoldo Zelante

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1 August 2017

publication date

13 January 2010

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European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

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1 August 2017

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1 August 2017

page(s)

636-641

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Structure, Expression, and Function of a Novel Intercalated Disc Protein, Xin

1 August 2017

cites work

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Myotilin is mutated in limb girdle muscular dystrophy 1A

6 July 2018

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Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

6 July 2018

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6 July 2018

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6 July 2018

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Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7

6 July 2018

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Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

6 July 2018

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Linkage of Familial Dilated Cardiomyopathy with Conduction Defect and Muscular Dystrophy to Chromosome 6q23

6 July 2018

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Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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

6 July 2018

1 reference

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Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci.

21 January 2018

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Molecular cloning of PalBH, a mammalian homologue of the Aspergillus atypical calpain PalB.

21 January 2018

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Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation

21 January 2018

1 reference

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Limb–girdle muscular dystrophies

27 October 2018

1 reference

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A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20068593

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20068593

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20068593

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.235

1 reference

1 August 2017

1 reference

1 August 2017

1 reference