Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population (Q28191691)

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22 December 2019

title

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

1 reference

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22 December 2019

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1 reference

3

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22 December 2019

Carmelo Rodolico

4

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22 December 2019

Maria Clara Bonaglia

5

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22 December 2019

Manuela Sironi

6

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22 December 2019

Maria Grazia D'Angelo

7

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22 December 2019

Alessandro Prelle

8

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22 December 2019

Nereo Bresolin

11

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22 December 2019

Giacomo P Comi

12

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22 December 2019

Rachele Cagliani

1 reference

ORCID Public Data File 2021

author name string

R Cagliani

1

1 reference

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22 December 2019

F Fortunato

2

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22 December 2019

F Locatelli

9

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22 December 2019

A Toscano

10

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22 December 2019

language of work or name

English

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publication date

1 December 2003

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22 December 2019

published in

Neuromuscular Disorders

1 reference

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22 December 2019

volume

13

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22 December 2019

issue

10

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22 December 2019

page(s)

788-795

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22 December 2019

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900133-0

7 January 2021

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900133-0

7 January 2021

C2-domains, structure and function of a universal Ca2+-binding domain

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900133-0

7 January 2021

Defective membrane repair in dysferlin-deficient muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900133-0

7 January 2021

Gene expression profiling in dysferlinopathies using a dedicated muscle microarray.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900133-0

7 January 2021

Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900133-0

7 January 2021

Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900133-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900133-0

7 January 2021

Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900133-0

7 January 2021

A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900133-0

7 January 2021

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900133-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900133-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900133-0

7 January 2021

Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900133-0

7 January 2021

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900133-0

7 January 2021

Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900133-0

7 January 2021

10.1016/S0960-8966(03)00133-0

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14678801%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017