(Q61853276)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21399986%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

title

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up (English)

1 reference

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25 January 2020

1 reference

1

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25 January 2020

Alessandra Govoni

2

1 reference

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25 January 2020

Maria Grazia D'Angelo

3

1 reference

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25 January 2020

Domenico Coviello

16

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25 January 2020

Yvan Torrente

17

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25 January 2020

Stefania Corti

18

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25 January 2020

Nereo Bresolin

20

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25 January 2020

Giacomo P Comi

21

1 reference

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25 January 2020

author name string

Roberto Del Bo

4

1 reference

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25 January 2020

Serena Ghezzi

5

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25 January 2020

Gandossini Sandra

6

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25 January 2020

Anna Carla Turconi

7

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25 January 2020

Silvana Tedeschi

11

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25 January 2020

Francesco Fortunato

12

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25 January 2020

Valeria Lucchini

13

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25 January 2020

Sara Bonato

14

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25 January 2020

Monica Sciacco

8

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25 January 2020

Patrizia Ciscato

9

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25 January 2020

Andreina Bordoni

10

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25 January 2020

Costanza Lamperti

15

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25 January 2020

Maurizio Moggio

19

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25 January 2020

publication date

12 March 2011

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25 January 2020

number of pages

14

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inferred from page(s)

published in

Journal of Neurology

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25 January 2020

volume

258

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25 January 2020

issue

9

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25 January 2020

page(s)

1610-1623

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Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

25 January 2020

cites work

1 reference

12 December 2020

Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.

1 reference

12 December 2020

Mutation of dystrophin gene and cardiomyopathy

1 reference

12 December 2020

Telethonin, a novel sarcomeric protein of heart and skeletal muscle

1 reference

12 December 2020

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

1 reference

12 December 2020

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

1 reference

12 December 2020

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

1 reference

12 December 2020

Cardiopulmonary support in duchenne muscular dystrophy

1 reference

12 December 2020

Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative registry approach

1 reference

12 December 2020

PRO-051, an antisense oligonucleotide for the potential treatment of Duchenne muscular dystrophy.

1 reference

12 December 2020

Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice

1 reference

12 December 2020

Cognitive impairment in neuromuscular disorders.

1 reference

12 December 2020

Glucocorticoid corticosteroids for Duchenne muscular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

1 reference

12 December 2020

Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy

1 reference

12 December 2020

Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome

1 reference

12 December 2020

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies

1 reference

12 December 2020

Some unanswered questions in Duchenne muscular dystrophy

1 reference

12 December 2020

Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers

1 reference

12 December 2020

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

12 December 2020

Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation

1 reference

12 December 2020

Emerging genetic therapies to treat Duchenne muscular dystrophy

1 reference

12 December 2020

Interpretative strategies for lung function tests

1 reference

12 December 2020

Current understanding and management of dilated cardiomyopathy in Duchenne and Becker muscular dystrophy.

1 reference

12 December 2020

The heart in human dystrophinopathies

1 reference

12 December 2020

MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients

1 reference

12 December 2020

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

12 December 2020

In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping

1 reference

12 December 2020

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

12 December 2020

Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy

1 reference

12 December 2020

Proximal Dystrophin Gene Deletions and Protein Alterations in Becker Muscular Dystrophy

1 reference

12 December 2020

149th ENMC International Workshop and 1st TREAT-NMD Workshop on: "planning phase i/ii clinical trials using systemically delivered antisense oligonucleotides in duchenne muscular dystrophy".

1 reference

12 December 2020

Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up

1 reference

12 December 2020

Clinical indications for noninvasive positive pressure ventilation in chronic respiratory failure due to restrictive lung disease, COPD, and nocturnal hypoventilation--a consensus conference report

1 reference

12 December 2020

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

1 reference

12 December 2020

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

1 reference

12 December 2020

Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates

1 reference

12 December 2020

Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin

1 reference

12 December 2020

PTC124 targets genetic disorders caused by nonsense mutations

1 reference

12 December 2020

Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy

1 reference

12 December 2020

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

1 reference

12 December 2020

Sarcoglycan deficiency in a large Italian population of myopathic patients

1 reference

12 December 2020