UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 211

Sortiert nach

The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Neuromuscular disorders : NMD, 2014-12, Vol.24 (12), p.1123-1153

2014

Link zum Volltext

Verfügbarkeit prüfen

Rescue of Dystrophic Muscle through U7 snRNA-Mediated Exon Skipping

Science (American Association for the Advancement of Science), 2004-12, Vol.306 (5702), p.1796-1799

2004

Link zum Volltext

Verfügbarkeit prüfen

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

Orphanet journal of rare diseases, 2012-07, Vol.7 (1), p.45-45, Article 45

2012

Link zum Volltext

Verfügbarkeit prüfen

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

Human mutation, 2007-02, Vol.28 (2), p.183-195

2007

Link zum Volltext

Verfügbarkeit prüfen

The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Neuromuscular disorders : NMD, 2015-12, Vol.25 (12), p.991-1020

2015

Link zum Volltext

Verfügbarkeit prüfen

X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

Skeletal muscle, 2020-08, Vol.10 (1), p.23-23, Article 23

2020

Link zum Volltext

Verfügbarkeit prüfen

The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Neuromuscular disorders : NMD, 2013-12, Vol.23 (12), p.1081-1111

2013

Link zum Volltext

Verfügbarkeit prüfen

The 2012 version of the gene table of monogenic neuromuscular disorders

Neuromuscular disorders : NMD, 2011-12, Vol.21 (12), p.833-861

Kaplan, Jean-Claude

2011

Link zum Volltext

Verfügbarkeit prüfen

Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

Muscle & nerve, 2011-11, Vol.44 (5), p.710-714

2011

Link zum Volltext

Verfügbarkeit prüfen

Phase i study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy

Human gene therapy, 2004-11, Vol.15 (11), p.1065-1076

2004

Link zum Volltext

Verfügbarkeit prüfen

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Nature (London), 1994-12, Vol.372 (6507), p.672-676

1994

Link zum Volltext

Verfügbarkeit prüfen

The 2011 version of the gene table of neuromuscular disorders

Neuromuscular disorders : NMD, 2010-12, Vol.20 (12), p.852-873

Kaplan, Jean-Claude

2010

Link zum Volltext

Verfügbarkeit prüfen

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation

Human molecular genetics, 2012-08, Vol.21 (15), p.3449-3460

2012

Link zum Volltext

Verfügbarkeit prüfen

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

Cell, 1994-08, Vol.78 (4), p.625-633

1994

Link zum Volltext

Verfügbarkeit prüfen

CFTR mutations in patients from Colombia: Implications for local and regional molecular diagnosis programs

Human mutation, 2003-09, Vol.22 (3), p.259-259

2003

Link zum Volltext

Verfügbarkeit prüfen

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

Neuromuscular disorders : NMD, 2004, Vol.14 (1), p.10-18

2004

Link zum Volltext

Verfügbarkeit prüfen

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

Annals of neurology, 1997-08, Vol.42 (2), p.222-229

1997

Link zum Volltext

Verfügbarkeit prüfen

Transcription of the dystrophin gene in human muscle and non-muscle tissues

Nature (London), 1988-06, Vol.333 (6176), p.858-860

1988

Link zum Volltext

Verfügbarkeit prüfen

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia

American journal of medical genetics. Part A, 2004-03, Vol.125A (2), p.152-156

2004

Link zum Volltext

Verfügbarkeit prüfen

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

Nature (London), 1992-09, Vol.359 (6393), p.320-322

1992

Link zum Volltext

Verfügbarkeit prüfen

The 2013 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Neuromuscular disorders : NMD, 2012-12, Vol.22 (12), p.1108-1135

2012

Link zum Volltext

Verfügbarkeit prüfen

Innovating therapies for muscle diseases

Handbook of Clinical Neurology, 2013, Vol.113, p.1497-1501

2013

Link zum Volltext

Verfügbarkeit prüfen

Lost after translation

M.S. Médecine sciences, 2008-11, Vol.24 (11), p.912

Kaplan, Jean-Claude

2008

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 211

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(188)
Mit Volltextzugriff
(188)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

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

Rescue of Dystrophic Muscle through U7 snRNA-Mediated Exon Skipping

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

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

The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

The 2012 version of the gene table of monogenic neuromuscular disorders

Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

Phase i study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

The 2011 version of the gene table of neuromuscular disorders

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

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

CFTR mutations in patients from Colombia: Implications for local and regional molecular diagnosis programs

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

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

Transcription of the dystrophin gene in human muscle and non-muscle tissues

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

The 2013 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Innovating therapies for muscle diseases

Lost after translation

Suchergebnisse filtern