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

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

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies

(2010) C. Paradas et al.   NEUROLOGY

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

(2009) Fiona L. M. Norwood et al.   BRAIN

TMEM16 Proteins Produce Volume-regulated Chloride Currents That Are Reduced in Mice Lacking TMEM16A

(2009) Joana Almaça et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

New aspects on patients affected by dysferlin deficient muscular dystrophy

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

TMEM16B, A Novel Protein with Calcium-Dependent Chloride Channel Activity, Associates with a Presynaptic Protein Complex in Photoreceptor Terminals

(2009) H. Stohr et al.   JOURNAL OF NEUROSCIENCE

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

Limb–girdle muscular dystrophies

(2008) Michela Guglieri et al.   CURRENT OPINION IN NEUROLOGY

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

TMEM16A confers receptor-activated calcium-dependent chloride conductance

(2008) Young Duk Yang et al.   NATURE

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