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Biology of adeno-associated viral vectors in the central nervous systemMoving towards effective therapeutic strategies for Neuronal Ceroid LipofuscinosisTargeted approaches to induce immune tolerance for Pompe disease therapyDifferential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosisLysosomal proteins in cell death and autophagyA missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage diseaseA lysosome-centered view of nutrient homeostasisEvaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage DiseasesInduced pluripotent stem cell models of lysosomal storage disorders.Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency allelesNewborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional ProgramsProgressive retinal degeneration and accumulation of autofluorescent lipopigments in Progranulin deficient mice.Carboxyl-terminal truncations alter the activity of the human α-galactosidase ANewborn screening for lysosomal storage diseasesEvidence for aberrant astrocyte hemichannel activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL).Lack of the Lysosomal Membrane Protein, GLMP, in Mice Results in Metabolic Dysregulation in LiverRapid and Progressive Regional Brain Atrophy in CLN6 Batten Disease Affected Sheep Measured with Longitudinal Magnetic Resonance Imaging.BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors.Progress in the Development of Small Molecule Therapeutics for the Treatment of Neuronal Ceroid Lipofuscinoses (NCLs).Proteomic Profiling in the Brain of CLN1 Disease Model Reveals Affected Functional Modules.Clinical applications involving CNS gene transfer.Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination CodonsNeuroinflammatory paradigms in lysosomal storage diseases.Astrocytes and lysosomal storage diseases.Moss-made pharmaceuticals: from bench to bedside.Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI.Copackaged AAV9 Vectors Promote Simultaneous Immune Tolerance and Phenotypic Correction of Pompe Disease.Lysosomal Storage Diseases-Regulating Neurodegeneration.Age-dependent development of liver fibrosis in Glmp (gt/gt) mice.Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometryAutophagy and human diseases.Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases.Astroglial vesicular network: evolutionary trends, physiology and pathophysiology.Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators.Understanding macrophage diversity at the ontogenic and transcriptomic levels.Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.The genetic basis of hypertrophic cardiomyopathy in cats and humans.Liver-Directed Human Amniotic Epithelial Cell Transplantation Improves Systemic Disease Phenotype in Hurler Syndrome Mouse Model.Neuroinflammation as modifier of genetically caused neurological disorders of the central nervous system: Understanding pathogenesis and chances for treatment.Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.
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P2860
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Lysosomal storage diseases--the horizon expands.
@en
type
label
Lysosomal storage diseases--the horizon expands.
@en
prefLabel
Lysosomal storage diseases--the horizon expands.
@en
P2860
P1476
Lysosomal storage diseases--the horizon expands.
@en
P2093
Rose-Mary Naaman Boustany
P2860
P2888
P304
P356
10.1038/NRNEUROL.2013.163
P407
P577
2013-08-13T00:00:00Z
P5875
P6179
1006544175