(Q45089572)

English

Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease).

scientific article published in September 2004

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scholarly article

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Europe PubMed Central

9 December 2017

Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease). (English)

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Europe PubMed Central

9 December 2017

Infantile neuronal ceroid lipofuscinosis

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author name string

Richard G Weleber

1

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Europe PubMed Central

9 December 2017

Nisha Gupta

2

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Europe PubMed Central

9 December 2017

Karmen M Trzupek

3

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Europe PubMed Central

9 December 2017

Meredith S Wepner

4

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Europe PubMed Central

9 December 2017

Daryl E Kurz

5

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Europe PubMed Central

9 December 2017

Ann H Milam

6

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Europe PubMed Central

9 December 2017

publication date

1 September 2004

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Europe PubMed Central

9 December 2017

Molecular Genetics and Metabolism

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Europe PubMed Central

9 December 2017

83

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Europe PubMed Central

9 December 2017

1-2

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Europe PubMed Central

9 December 2017

128-137

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Europe PubMed Central

9 December 2017

Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients

1 reference

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7 January 2021

Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies

1 reference

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7 January 2021

Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies

1 reference

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7 January 2021

Ophthalmological findings in infantile type of so-called neuronal ceroid lipofuscinosis

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The neuronal ceroid-lipofuscinoses

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The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses

1 reference

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Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency

1 reference

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7 January 2021

Infantile neuronal ceroid-lipofuscinosis (INCL): diagnostic criteria.

1 reference

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Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

1 reference

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Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase

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CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis

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Palmitoyl protein thioesterase 1 protects against apoptosis mediated by Ras-Akt-caspase pathway in neuroblastoma cells

1 reference

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7 January 2021

Batten's disease: clues to neuronal protein catabolism in lysosomes

1 reference

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Antisense palmitoyl protein thioesterase 1 (PPT1) treatment inhibits PPT1 activity and increases cell death in LA-N-5 neuroblastoma cells

1 reference

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Acquired esotropia. A manifestation of Chiari I malformation

1 reference

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Standard for clinical electroretinography (1994 update)

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Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

1 reference

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Identification and light-dependent translocation of a cone-specific antigen, cone arrestin, recognized by monoclonal antibody 7G6

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Recoverin immunoreactivity in mammalian cone bipolar cells

1 reference

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7 January 2021

Push-pull model of the primate photopic electroretinogram: a role for hyperpolarizing neurons in shaping the b-wave

1 reference

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7 January 2021

Specific deficit of the ON response in visual transmission by targeted disruption of the mGluR6 gene.

1 reference

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7 January 2021

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

1 reference

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7 January 2021

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

1 reference

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7 January 2021

Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)

1 reference

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7 January 2021

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

1 reference

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7 January 2021

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

1 reference

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7 January 2021

Immunohistochemical analysis of the outer plexiform layer in the nob mouse shows no abnormalities

1 reference

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Retinoschisin, a photoreceptor-secreted protein, and its interaction with bipolar and muller cells

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Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis

1 reference

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Lysosomal targeting of palmitoyl-protein thioesterase

1 reference

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Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL)

1 reference

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7 January 2021

Palmitoyl protein thioesterase 1 is targeted to the axons in neurons

1 reference

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Palmitoyl-protein thioesterase, an enzyme implicated in neurodegeneration, is localized in neurons and is developmentally regulated in rat brain

1 reference

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7 January 2021

The expression of palmitoyl-protein thioesterase is developmentally regulated in neural tissues but not in nonneural tissues.

1 reference

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7 January 2021

Palmitoyl-protein thioesterase gene expression in the developing mouse brain and retina: implications for early loss of vision in infantile neuronal ceroid lipofuscinosis.

1 reference

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Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood

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The mechanism and functional roles of protein palmitoylation in the nervous system

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SV2 modulates the size of the readily releasable pool of secretory vesicles

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Signalling functions of protein palmitoylation

1 reference

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The 25 kDa synaptosomal-associated protein SNAP-25 is the major methionine-rich polypeptide in rapid axonal transport and a major substrate for palmitoylation in adult CNS

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Synaptic protein expression by regenerating adult photoreceptors

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Protein palmitoylation: a regulator of neuronal development and function

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N-terminal palmitoylation of PSD-95 regulates association with cell membranes and interaction with K+ channel Kv1.4.

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The postsynaptic density at glutamatergic synapses

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Immunocytochemical localization of the postsynaptic density protein PSD-95 in the mammalian retina

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Vesicular gamma-aminobutyric acid transporter expression in amacrine and horizontal cells

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Neuronal ceroid-lipofuscinoses in childhood

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Europe PubMed Central

9 December 2017

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Europe PubMed Central

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