GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.
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Sialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regenerationSystemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan.Crystal Structure of Human -Galactosidase: STRUCTURAL BASIS OF GM1 GANGLIOSIDOSIS AND MORQUIO B DISEASESBilateral symmetrical basal ganglia and thalamic lesions in children: an update (2015).In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.Multi-system disorders of glycosphingolipid and ganglioside metabolismThree novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity.Child neurology: Exaggerated dermal melanocytosis in a hypotonic infant: a harbinger of GM1 gangliosidosis.Candidate molecules for chemical chaperone therapy of GM1-gangliosidosis.Filipin recognizes both GM1 and cholesterol in GM1 gangliosidosis mouse brain.Ganglioside biochemistryGM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity.Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis.The Ganglioside GM-1 Inhibits Bupivacaine-Induced Neurotoxicity in Mouse Neuroblastoma Neuro2a Cells.Beyond the cherry-red spot: Ocular manifestations of sphingolipid-mediated neurodegenerative and inflammatory disorders.Pathophysiological actions of neuropathy-related anti-ganglioside antibodies at the neuromuscular junction.Inhibition of GM3 synthase attenuates neuropathology of Niemann-Pick disease Type C. by affecting sphingolipid metabolism.VaProS: a database-integration approach for protein/genome information retrieval.Quality control gone wrong: mitochondria, lysosomal storage disorders and neurodegeneration.Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.Neuronopathic lysosomal storage diseases: clinical and pathologic findings.Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs).Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation.Magnetic resonance imaging findings of central nervous system in lysosomal storage diseases: A pictorial review.Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease.Gene therapy for GM1 gangliosidosis: challenges of translational medicineCase reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis.Carrier rates of four single-gene disorders in Croatian Bayash Roma.Determination of Acid β-Galactosidase Activity: Methodology and Perspectives.Population analysis of the GLB1 gene in South Brazil.An autopsy case of infantile GM1 gangliosidosis with adrenal calcification.β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.Abnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders.Ophthalmologic Findings in Patients with Neuro-metabolic Disorders.Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.
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P2860
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 03 June 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.
@en
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.
@nl
type
label
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.
@en
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.
@nl
prefLabel
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.
@en
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.
@nl
P1476
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects
@en
P2093
Fernando Scaglia
P304
P356
10.1016/J.YMGME.2008.04.012
P577
2008-06-03T00:00:00Z