The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies

Human allelic variation: perspective from protein function, structure, and evolution

(2010) Daniel M Jordan et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Dystrophin-deficient zebrafish feature aspects of the Duchenne muscular dystrophy pathology

(2010) Joachim Berger et al.   NEUROMUSCULAR DISORDERS

Abnormal glycosylation of dystroglycan in human genetic disease

(2009) Jane E. Hewitt   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies

(2009) M. R. Ackroyd et al.   BRAIN

The zebrafish dystrophic mutant softy maintains muscle fibre viability despite basement membrane rupture and muscle detachment

(2009) A. S. Jacoby et al.   DEVELOPMENT

Zebrafish models for human FKRP muscular dystrophies

(2009) Genri Kawahara et al.   HUMAN MOLECULAR GENETICS

Visual Impairment in the Absence of Dystroglycan

(2009) J. S. Satz et al.   JOURNAL OF NEUROSCIENCE

Functional diversity of dystroglycan

(2009) Manuela Bozzi et al.   MATRIX BIOLOGY

Topoisomerase II  Is Required for Embryonic Development and Liver Regeneration in Zebrafish

(2009) M. Dovey et al.   MOLECULAR AND CELLULAR BIOLOGY

Fukutingene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement

(2009) Simona Saredi et al.   MUSCLE & NERVE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

An unusual presentation of Muscle–Eye–Brain disease: Severe eye abnormalities with mild muscle and brain involvement

(2009) Ercan Demir et al.   NEUROMUSCULAR DISORDERS

Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation

(2009) Rebecca L. Puckett et al.   NEUROMUSCULAR DISORDERS

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

(2009) L. Al-Qusairi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

(2008) Emma Clement et al.   ANNALS OF NEUROLOGY

Mechanisms of Muscle Degeneration, Regeneration, and Repair in the Muscular Dystrophies

(2008) Gregory Q. Wallace et al.   Annual Review of Physiology

Limb–girdle muscular dystrophies

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

Brain and Eye Malformations Resembling Walker-Warburg Syndrome Are Recapitulated in Mice by Dystroglycan Deletion in the Epiblast

(2008) J. S. Satz et al.   JOURNAL OF NEUROSCIENCE

Muscular dystrophy associated with α-dystroglycan deficiency in Sphynx and Devon Rex cats

(2008) Paul T. Martin et al.   NEUROMUSCULAR DISORDERS

Muscular dystrophies due to glycosylation defects

(2008) Francesco Muntoni et al.   Neurotherapeutics

L-Type Ca2+ Channel Function Is Linked to Dystrophin Expression in Mammalian Muscle

(2008) Oliver Friedrich et al.   PLoS One

Inhibitory Control Over Ca2+ Sparks via Mechanosensitive Channels Is Disrupted in Dystrophin Deficient Muscle but Restored by Mini-Dystrophin Expression

(2008) Martin D. H. Teichmann et al.   PLoS One