Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
about
Classification and natural history of the neuronal ceroid lipofuscinosesAtypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.The genetic spectrum of human neuronal ceroid-lipofuscinoses.A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.Spectrum of ocular manifestations in CLN2-associated batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological functionThe role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.Large-volume intrathecal enzyme delivery increases survival of a mouse model of late infantile neuronal ceroid lipofuscinosis.A reversal learning task detects cognitive deficits in a Dachshund model of late-infantile neuronal ceroid lipofuscinosis.Current state of clinical and morphological features in human NCL.Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.Assessment of disease severity in late infantile neuronal ceroid lipofuscinosis using multiparametric MR imaging.Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis.Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathwayClinical trials in rare disease: challenges and opportunities.Chronic Enzyme Replacement to the Brain of a Late Infantile Neuronal Ceroid Lipofuscinosis Mouse Has Differential Effects on Phenotypes of Disease.Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.N-glycosylation is crucial for folding, trafficking, and stability of human tripeptidyl-peptidase I.The genetics of the epilepsies.Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression.Survival advantage of neonatal CNS gene transfer for late infantile neuronal ceroid lipofuscinosis.NCL diseases - clinical perspectivesProteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.The value of a comprehensive natural history in late infantile CLN5 disease.Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis.
P2860
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P2860
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
2002年论文
@zh
2002年论文
@zh-cn
name
Late infantile neuronal ceroid ...... patients with CLN2 mutations.
@en
type
label
Late infantile neuronal ceroid ...... patients with CLN2 mutations.
@en
prefLabel
Late infantile neuronal ceroid ...... patients with CLN2 mutations.
@en
P2093
P2860
P356
P1476
Late infantile neuronal ceroid ...... patients with CLN2 mutations.
@en
P2093
Alfried Kohlschütter
Hans H Goebel
Henning von Gregory
Kerstin Meyer
Kurt Ullrich
Peter Heim
Robert Steinfeld
P2860
P304
P356
10.1002/AJMG.10660
P577
2002-11-01T00:00:00Z