UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

Therapeutic exon skipping for dysferlinopathies?

(2010) Annemieke Aartsma-Rus et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Therapeutic exon ‘switching’ for dysferlinopathies?

(2010) Nicolas Lévy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression

(2010) Bingjing Wang et al.   JOURNAL OF APPLIED PHYSIOLOGY

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51

(2010) Rosário Santos et al.   JOURNAL OF HUMAN GENETICS

A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy

(2010) M. Krahn et al.   Science Translational Medicine

Identification of Different Genomic Deletions and One Duplication in the Dysferlin Gene Using Multiplex Ligation-Dependent Probe Amplification and Genomic Quantitative PCR

(2009) Martin Krahn et al.   Genetic Testing and Molecular Biomarkers

Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms

(2009) Zacharias Aloysius Dwi Pramono et al.   HUMAN GENETICS

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:FBN1,FBN2,TGFBR1, andTGFBR2

(2009) Mélissa Yana Frédéric et al.   HUMAN MUTATION

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

(2009) Nicolas Wein et al.   HUMAN MUTATION

New aspects on patients affected by dysferlin deficient muscular dystrophy

(2009) L. Klinge et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Twenty-two year follow-up of an Indian family with dysferlinopathy-clinical, immunocytochemical, western blotting and genetic features

(2009) SatishV Khadilkar et al.   NEUROLOGY INDIA

Dysferlinopathies

(2009) JAndoni Urtizberea et al.   NEUROLOGY INDIA

The Pfam protein families database

(2009) Robert D. Finn et al.   NUCLEIC ACIDS RESEARCH

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Dysferlin-deficient muscular dystrophy features amyloidosis

(2008) Simone Spuler et al.   ANNALS OF NEUROLOGY

Analysis of theDYSFmutational spectrum in a large cohort of patients

(2008) Martin Krahn et al.   HUMAN MUTATION

Asymptomatic Sporadic Dysferlinopathy Presenting with Elevation of Serum Creatine Kinase. Typical Distribution of Muscle Involvement Shown by MRI but not by CT

(2008) Satomi Okahashi et al.   INTERNAL MEDICINE

Solution Structure of the Inner DysF Domain of Myoferlin and Implications for Limb Girdle Muscular Dystrophy Type 2B

(2008) Pryank Patel et al.   JOURNAL OF MOLECULAR BIOLOGY

Late onset in dysferlinopathy widens the clinical spectrum

(2008) L. Klinge et al.   NEUROMUSCULAR DISORDERS

A new phenotype of dysferlinopathy with congenital onset

(2008) C. Paradas et al.   NEUROMUSCULAR DISORDERS

SMART 6: recent updates and new developments

(2008) I. Letunic et al.   NUCLEIC ACIDS RESEARCH

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

(2007) Michela Guglieri et al.   HUMAN MUTATION

A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2

(2007) Melissa Yana Frederic et al.   HUMAN MUTATION

Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy

(2007) P. Seror et al.   MUSCLE & NERVE