相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Astrocyte roles in traumatic brain injury
Joshua E. Burda et al.
EXPERIMENTAL NEUROLOGY (2016)
Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)
Megan E. Bosch et al.
JOURNAL OF NEUROSCIENCE (2016)
Cognitive decline in classic infantile Pompe disease: An underacknowledged challenge
Berendine J. Ebbink et al.
NEUROLOGY (2016)
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study
Steven Shinn-Forng Peng et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth
Yin-Hsiu Chien et al.
JOURNAL OF PEDIATRICS (2015)
Peripheral nerve and neuromuscular junction pathology in Pompe disease
Darin J. Falk et al.
HUMAN MOLECULAR GENETICS (2015)
Transient Low-Dose Methotrexate Generates B Regulatory Cells That Mediate Antigen-Specific Tolerance to Alglucosidase Alfa
Marguerite S. Joly et al.
JOURNAL OF IMMUNOLOGY (2014)
Mammalian Target of Rapamycin Promotes Oligodendrocyte Differentiation, Initiation and Extent of CNS Myelination
Stacey E. Wahl et al.
JOURNAL OF NEUROSCIENCE (2014)
Motor skill learning requires active central myelination
Ian A. McKenzie et al.
SCIENCE (2014)
Enzyme Replacement in Neuronal Storage Disorders in the Pediatric Population
Erika F. Augustine et al.
CURRENT TREATMENT OPTIONS IN NEUROLOGY (2013)
Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency
Ni-Chung Lee et al.
NEUROBIOLOGY OF DISEASE (2013)
Systemic Delivery of Tyrosine-Mutant AAV Vectors Results in Robust Transduction of Neurons in Adult Mice
Asako Iida et al.
BIOMED RESEARCH INTERNATIONAL (2013)
Measuring Motor Coordination in Mice
Robert M. J. Deacon
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS (2013)
Measuring the Strength of Mice
Robert M. J. Deacon
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS (2013)
Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy
C. M. van Gelder et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease
Richie Khanna 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)
Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle
Dwight D. Koeberl et al.
MOLECULAR GENETICS AND METABOLISM (2011)
EXPANDING THE PHENOTYPE OF LATE-ONSET POMPE DISEASE: TONGUE WEAKNESS: A NEW CLINICAL OBSERVATION
Alberto Dubrovsky et al.
MUSCLE & NERVE (2011)
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
Marc Nicolino et al.
GENETICS IN MEDICINE (2009)
Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease
Priya S. Kishnani et al.
PEDIATRIC RESEARCH (2009)
Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment
Yin-Hsiu Chien et al.
PEDIATRICS (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)
Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice
Richard L. Sidman et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2008)
Early detection of Pompe disease by newborn screening is feasible: Results from the Taiwan screening program
Yin-Hsiu Chien et al.
PEDIATRICS (2008)
Optimized preservation of CNS morphology for the identification of glycogen in the Pompe mouse model
Tatyana V. Taksir et al.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2007)
Recombinant human acid α-glucosidase -: Major clinical benefits in infantile-onset Pompe disease
P. S. Kishnani et al.
NEUROLOGY (2007)
Long term intravenous treatment of Pompe disease with recombinant human α-glucosidase from milk
JMP Van den Hout et al.
PEDIATRICS (2004)
Recombinant human α-glucosidase from rabbit milk in Pompe patients
H Van den Hout et al.
LANCET (2000)
Modulation of disease severity in mice with targeted disruption of the acid α-glucosidase gene
N Raben et al.
NEUROMUSCULAR DISORDERS (2000)