(Q61943899)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17994539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients (English)

1 reference

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10 January 2020

1 reference

2

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10 January 2020

Maria Grazia D'Angelo

3

1 reference

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10 January 2020

Alessandro Prelle

4

1 reference

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10 January 2020

Carmelo Rodolico

6

1 reference

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10 January 2020

Rachele Cagliani

7

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10 January 2020

Marina Mora

8

1 reference

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10 January 2020

Serena Pagliarani

13

1 reference

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10 January 2020

Sabrina Lucchiari

14

1 reference

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10 January 2020

Chiara Zecca

16

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10 January 2020

Dario Ronchi

18

1 reference

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10 January 2020

Alessandra Ruggieri

22

1 reference

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10 January 2020

Nereo Bresolin

27

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10 January 2020

Giacomo P Comi

28

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10 January 2020

author name string

Michela Guglieri

1

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10 January 2020

Lucia Morandi

5

1 reference

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10 January 2020

Francesco Fortunato

9

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10 January 2020

Roberto Del Bo

11

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10 January 2020

Serena Ghezzi

12

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10 January 2020

Sabrina Salani

15

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10 January 2020

Mohammed Aguennouz

19

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10 January 2020

Claudia Di Blasi

21

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10 January 2020

Anna Turconi

24

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10 January 2020

Antonio Toscano

25

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10 January 2020

Andreina Bordoni

10

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10 January 2020

Costanza Lamperti

17

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10 January 2020

Patrizia Ciscato

20

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10 January 2020

Isabella Moroni

23

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10 January 2020

Maurizio Moggio

26

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10 January 2020

publication date

1 February 2008

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10 January 2020

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10 January 2020

volume

29

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10 January 2020

issue

2

1 reference

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10 January 2020

page(s)

258-266

1 reference

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Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

10 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

A CAV3 microdeletion differentially affects skeletal muscle and myocardium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Expanding the clinical spectrum of POMT1 phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

The frequency of limb girdle muscular dystrophy 2A in northeastern Italy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

The RAGE pathway in inflammatory myopathies and limb girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Myotilin is mutated in limb girdle muscular dystrophy 1A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Limb-girdle muscular dystrophy in the United States

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Dystrophin in skeletal muscle. II. Immunoreactivity in patients with Xp21 muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Sarcoglycan deficiency in a large Italian population of myopathic patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Calpainopathy-a survey of mutations and polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Telethonin, a novel sarcomeric protein of heart and skeletal muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

The 10 autosomal recessive limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20642

7 January 2021

Identifiers

DOI

10.1002/HUMU.20642

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17994539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference