Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up (Q61853276)

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scientific article published on 12 March 2011

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English	Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up	scientific article published on 12 March 2011

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PubMed publication ID

21399986

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25 January 2020

title

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

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21399986

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25 January 2020

main subject

phenotype

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Francesca Magri

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1

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21399986

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Alessandra Govoni

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2

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21399986

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Maria Grazia D'Angelo

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3

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21399986

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Domenico Coviello

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16

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21399986

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Yvan Torrente

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17

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21399986

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Stefania Corti

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18

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21399986

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Nereo Bresolin

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20

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21399986

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Giacomo P Comi

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21

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Roberto Del Bo

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4

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21399986

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Serena Ghezzi

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5

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21399986

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25 January 2020

Gandossini Sandra

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6

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21399986

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Anna Carla Turconi

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7

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21399986

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25 January 2020

Silvana Tedeschi

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11

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21399986

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25 January 2020

Francesco Fortunato

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12

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21399986

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25 January 2020

Valeria Lucchini

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13

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21399986

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25 January 2020

Sara Bonato

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14

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21399986

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25 January 2020

Monica Sciacco

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8

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21399986

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25 January 2020

Patrizia Ciscato

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9

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21399986

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25 January 2020

Andreina Bordoni

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10

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21399986

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Costanza Lamperti

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15

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21399986

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25 January 2020

Maurizio Moggio

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19

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21399986

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publication date

12 March 2011

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21399986

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number of pages

14

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published in

Journal of Neurology

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21399986

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volume

258

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21399986

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issue

9

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page(s)

1610-1623

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25 January 2020

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

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

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

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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

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

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

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

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

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

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The heart in human dystrophinopathies

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12 December 2020

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

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

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12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/21399986

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12 December 2020

based on heuristic

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Local dystrophin restoration with antisense oligonucleotide PRO051

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12 December 2020

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

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Proximal Dystrophin Gene Deletions and Protein Alterations in Becker Muscular Dystrophy

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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".

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

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

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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

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12 December 2020

based on heuristic

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

1 reference

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12 December 2020

based on heuristic

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

1 reference

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reference URL

https://pubmed.ncbi.nlm.nih.gov/21399986

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PTC124 targets genetic disorders caused by nonsense mutations

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21399986

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy

1 reference

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reference URL

https://pubmed.ncbi.nlm.nih.gov/21399986

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

stated in

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reference URL

https://pubmed.ncbi.nlm.nih.gov/21399986

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12 December 2020

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Sarcoglycan deficiency in a large Italian population of myopathic patients

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12 December 2020

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Identifiers

DOI

10.1007/S00415-011-5979-Z

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stated in

Europe PubMed Central

PubMed publication ID

21399986

reference URL

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

retrieved

25 January 2020

Dimensions Publication ID

1005781288

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PubMed publication ID

21399986

1 reference

stated in

Europe PubMed Central

PubMed publication ID

21399986

reference URL

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

retrieved

25 January 2020

 

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