Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

(2010) Véronique Bolduc et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Novel diagnostic features of dysferlinopathies

(2010) Xiomara Q. Rosales et al.   MUSCLE & NERVE

The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)

(2010) C. Angelini et al.   NEUROLOGICAL RESEARCH

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies

(2010) C. Paradas et al.   NEUROLOGY

Novel DYSF mutations in Thai patients with distal myopathy

(2009) Teerin Liewluck et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

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

One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography

(2009) Annalaura Torella et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

New aspects on patients affected by dysferlin deficient muscular dystrophy

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

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

(2009) M. Fanin et al.   NEUROLOGY

Dysferlinopathies

(2009) JAndoni Urtizberea et al.   NEUROLOGY INDIA

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

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

Analysis of theDYSFmutational spectrum in a large cohort of patients

(2008) Martin Krahn et al.   HUMAN MUTATION

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