Related references
Note: Only part of the references are listed.Adjunctive β2-agonist treatment reduces glycogen independently of receptor-mediated acid α-glucosidase uptake in the limb muscles of mice with Pompe disease
Benjamin L. Farah et al.
FASEB JOURNAL (2014)
Glycogenosome accumulation in the arrector pili muscle in Pompe disease
Istvan Katona et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile-and adult-onset patients
Erin J. Feeney et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2014)
At the “Junction” of Spinal Muscular Atrophy Pathogenesis: The Role of Neuromuscular Junction Dysfunction in SMA Disease Progression
B. Goulet et al.
CURRENT MOLECULAR MEDICINE (2013)
Terminal Schwann Cells Participate in the Competition Underlying Neuromuscular Synapse Elimination
Ian W. Smith et al.
JOURNAL OF NEUROSCIENCE (2013)
Effects of in vivo injury on the neuromuscular junction in healthy and dystrophic muscles
Stephen J. P. Pratt et al.
JOURNAL OF PHYSIOLOGY-LONDON (2013)
Intrapleural Administration of AAV9 Improves Neural and Cardiorespiratory Function in Pompe Disease
Darin J. Falk et al.
MOLECULAR THERAPY (2013)
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy
Sean N. Prater et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
BMP4 Is a Peripherally-Derived Factor for Motor Neurons and Attenuates Glutamate-Induced Excitotoxicity In Vitro
Hui-Ju Chou et al.
PLOS ONE (2013)
Distinct Changes in Synaptic Protein Composition at Neuromuscular Junctions of Extraocular Muscles versus Limb Muscles of ALS Donors
Jing-Xia Liu et al.
PLOS ONE (2013)
The respiratory neuromuscular system in Pompe disease
David D. Fuller et al.
RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY (2013)
Structure of the neuromuscular junction: function and cooperative mechanisms in the synapse
Masaharu Takamori
MYASTHENIA GRAVIS AND RELATED DISORDERS I (2012)
Guidelines for the use and interpretation of assays for monitoring autophagy
Daniel J. Klionsky et al.
AUTOPHAGY (2012)
Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
James J. Dowling et al.
DISEASE MODELS & MECHANISMS (2012)
Supine volume drop and diaphragmatic function in adults with Pompe disease
Helene Prigent et al.
EUROPEAN RESPIRATORY JOURNAL (2012)
A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology
Melissa Bowerman et al.
NEUROMUSCULAR DISORDERS (2012)
Shared Resistance to Aging and ALS in Neuromuscular Junctions of Specific Muscles
Gregorio Valdez et al.
PLOS ONE (2012)
Retrograde Gene Delivery to Hypoglossal Motoneurons Using Adeno-Associated Virus Serotype 9
Mai K. ElMallah et al.
HUMAN GENE THERAPY METHODS (2012)
Molecular, Physiological, and Motor Performance Defects in DMSXL Mice Carrying >1,000 CTG Repeats from the Human DM1 Locus
Aline Huguet et al.
PLOS GENETICS (2012)
Pompe disease gene therapy
Barry J. Byrne et al.
HUMAN MOLECULAR GENETICS (2011)
Separation of Fast from Slow Anabolism by Site-specific PEGylation of Insulin-like Growth Factor I (IGF-I)
Friedrich Metzger et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Nerve Terminal Growth Remodels Neuromuscular Synapses in Mice following Regeneration of the Postsynaptic Muscle Fiber
Yue Li et al.
JOURNAL OF NEUROSCIENCE (2011)
Pompe disease: Design, methodology, and early findings from the Pompe Registry
Barry J. Byrne et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies
Stephanie A. Robb et al.
NEUROMUSCULAR DISORDERS (2011)
Restoration of central nervous system α-N-acetylglucosaminidase activity and therapeutic benefits in mucopolysaccharidosis IIIB mice by a single intracisternal recombinant adeno-associated viral type 2 vector delivery
Haiyan Fu et al.
JOURNAL OF GENE MEDICINE (2010)
Gel-mediated Delivery of AAV1 Vectors Corrects Ventilatory Function in Pompe Mice With Established Disease
Cathryn S. Mah et al.
MOLECULAR THERAPY (2010)
Attenuation of age-related changes in mouse neuromuscular synapses by caloric restriction and exercise
Gregorio Valdez et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice
Lingling Kong et al.
JOURNAL OF NEUROSCIENCE (2009)
Neural deficits contribute to respiratory insufficiency in Pompe disease
Lara R. DeRuisseau et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Pompe disease: A neuromuscular disease with respiratory muscle involvement
Uwe Mellies et al.
RESPIRATORY MEDICINE (2009)
Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy
James J. Dowling et al.
PLOS GENETICS (2009)
Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice
Richard L. Sidman et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2008)
Centronuclear (myotubular) myopathy
Heinz Jungbluth et al.
ORPHANET JOURNAL OF RARE DISEASES (2008)
Axonal degeneration in motor neuron disease
Lindsey R. Fischer et al.
NEURODEGENERATIVE DISEASES (2007)
Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease
Beth L. Thurberg et al.
LABORATORY INVESTIGATION (2006)
Systemic administration of IGF-I enhances oxidative status and reduces contraction-induced injury in skeletal muscles of mdx dystrophic mice
Jonathan D. Schertzer et al.
AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM (2006)
Enzyme replacement therapy in the mouse model of Pompe disease
N Raben et al.
MOLECULAR GENETICS AND METABOLISM (2003)
Perisynaptic Schwann cells at the neuromuscular junction: Nerve- and activity-dependent contributions to synaptic efficacy, plasticity, and reinnervation
DS Auld et al.
NEUROSCIENTIST (2003)
Induction, assembly, maturation and maintenance of a postsynaptic apparatus
JR Sanes et al.
NATURE REVIEWS NEUROSCIENCE (2001)
Sleep-disordered breathing and respiratory failure in acid maltase deficiency
U Mellies et al.
NEUROLOGY (2001)
Tibialis anterior muscles in mdx mice are highly susceptible to contraction-induced injury
C Dellorusso et al.
JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY (2001)
Share Paper
