DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction

Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression

(2013) Gaëlle Bruneteau et al.   BRAIN

Factor IX expression in skeletal muscle of a severe hemophilia B patient 10 years after AAV-mediated gene transfer

(2012) G. Buchlis et al.   BLOOD

Autoimmune mechanisms in myasthenia gravis

(2012) Paola Cavalcante et al.   CURRENT OPINION IN NEUROLOGY

Intracellular transport of recombinant adeno-associated virus vectors

(2012) M Nonnenmacher et al.   GENE THERAPY

Muscle-specific expression of LARGE restores neuromuscular transmission deficits in dystrophic LARGEmyd mice

(2012) Jessica D. Gumerson et al.   HUMAN MOLECULAR GENETICS

Activation of receptor protein-tyrosine kinases from the cytoplasmic compartment

(2012) Y. Yamanashi et al.   JOURNAL OF BIOCHEMISTRY

Protein-anchoring Strategy for Delivering Acetylcholinesterase to the Neuromuscular Junction

(2012) Mikako Ito et al.   MOLECULAR THERAPY

Rapamycin Reverses Elevated mTORC1 Signaling in Lamin A/C-Deficient Mice, Rescues Cardiac and Skeletal Muscle Function, and Extends Survival

(2012) F. J. Ramos et al.   Science Translational Medicine

Increasing MuSK Activity Delays Denervation and Improves Motor Function in ALS Mice

(2012) María J. Pérez-García et al.   Cell Reports

Therapeutic in vivo gene transfer for genetic disease using AAV: progress and challenges

(2011) Federico Mingozzi et al.   NATURE REVIEWS GENETICS

Adenovirus-Associated Virus Vector–Mediated Gene Transfer in Hemophilia B

(2011) Amit C. Nathwani et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age-associated alterations of the neuromuscular junction

(2010) Youngmok C. Jang et al.   EXPERIMENTAL GERONTOLOGY

DOK7 mutations presenting as a proximal myopathy in French Canadians

(2010) Myriam Srour et al.   NEUROMUSCULAR DISORDERS

Review: Neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy

(2010) L. M. Murray et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Reduced Level of Smoothened Suppresses Intestinal Tumorigenesis by Down-Regulation of Wnt Signaling

(2009) Sumimasa Arimura et al.   GASTROENTEROLOGY

Scalable Purification of Adeno-associated Virus Serotype 1 (AAV1) and AAV8 Vectors, Using Dual Ion-Exchange Adsorptive Membranes

(2009) Takashi Okada et al.   HUMAN GENE THERAPY

Lamin A/C–mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy

(2009) Alexandre Méjat et al.   JOURNAL OF CELL BIOLOGY

Dok-7 Activates the Muscle Receptor Kinase MuSK and Shapes Synapse Formation

(2009) A. Inoue et al.   Science Signaling

Dok-7 myasthenia: Phenotypic and molecular genetic studies in 16 patients

(2008) Duygu Selcen et al.   ANNALS OF NEUROLOGY

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

(2008) Shingo Kariya et al.   HUMAN MOLECULAR GENETICS

Analysis of AAV Serotypes 1–9 Mediated Gene Expression and Tropism in Mice After Systemic Injection

(2008) Carmela Zincarelli et al.   MOLECULAR THERAPY

Increased expression of acetylcholine receptors in the diaphragm muscle ofmdxmice

(2008) Paulo C. Ghedini et al.   MUSCLE & NERVE