Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

ANO5Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

(2013) Anna Sarkozy et al.   HUMAN MUTATION

ANO5 mutations in the Dutch limb girdle muscular dystrophy population

(2013) Anneke J. van der Kooi et al.   NEUROMUSCULAR DISORDERS

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

(2012) Francesca Magri et al.   NEUROMUSCULAR DISORDERS

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

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

(2010) D. Hicks et al.   BRAIN

Novel diagnostic features of dysferlinopathies

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

Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients

(2009) Frank Hanisch et al.   JOURNAL OF NEUROLOGY

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

(2009) M. Fanin et al.   NEUROLOGY

ANO2 is the cilial calcium-activated chloride channel that may mediate olfactory amplification

(2009) Aaron B. Stephan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Expression Cloning of TMEM16A as a Calcium-Activated Chloride Channel Subunit

(2008) Björn Christian Schroeder et al.   CELL

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A

(2008) Marina Fanin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Analysis of theDYSFmutational spectrum in a large cohort of patients

(2008) Martin Krahn et al.   HUMAN MUTATION

TMEM16A confers receptor-activated calcium-dependent chloride conductance

(2008) Young Duk Yang et al.   NATURE

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

Limb–girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis

(2007) Harriet P. Lo et al.   NEUROMUSCULAR DISORDERS