Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis (Q26753109)

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1 April 2020

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15 August 2020

Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis (English)

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juvenile neuronal ceroid lipofuscinosis

1 April 2020

main subject

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24 March 2019

22 April 2019

25 April 2019

neuronal ceroid lipofuscinosis

1 reference

15 August 2020

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Michelle L Hastings

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Tammy Kielian

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Tammy Kielian

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author name string

Ryan D Geraets

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1 April 2020

Seung yon Koh

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1 April 2020

David A Pearce

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publication date

16 April 2016

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22 April 2019

25 April 2019

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1 April 2020

15 August 2020

Orphanet Journal of Rare Diseases

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24 March 2019

22 April 2019

25 April 2019

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15 August 2020

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issue

1

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page(s)

40

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Creative Commons Attribution 4.0 International

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copyright license

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on focus list of Wikimedia project

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ScienceSource

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https://scigraph.springernature.com/pub.10.1186/s13023-016-0414-2

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cites work

N-acetylcysteine (NAC) in neurological disorders: mechanisms of action and therapeutic opportunities

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A call for transparent reporting to optimize the predictive value of preclinical research

7 April 2017

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Cell-based therapy for neural disorders--anticipating challenges

7 April 2017

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Clarifying lysosomal storage diseases

7 April 2017

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A gene network regulating lysosomal biogenesis and function

7 April 2017

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Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2

7 April 2017

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Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder

7 April 2017

1 reference

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Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I

7 April 2017

1 reference

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Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

7 April 2017

1 reference

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Classification and natural history of the neuronal ceroid lipofuscinoses

7 April 2017

1 reference

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The dharma of nonsense-mediated mRNA decay in mammalian cells

7 April 2017

1 reference

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The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy

7 April 2017

1 reference

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The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis

7 April 2017

1 reference

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Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors

7 April 2017

1 reference

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Attenuation of nonsense-mediated mRNA decay enhances in vivo nonsense suppression

7 April 2017

1 reference

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Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease

7 April 2017

1 reference

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Production and characterization of recombinant human CLN2 protein for enzyme-replacement therapy in late infantile neuronal ceroid lipofuscinosis

7 April 2017

1 reference

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Lacosamide: a new approach to target voltage-gated sodium currents in epileptic disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging

7 April 2017

1 reference

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Mechanisms underlying inflammation in neurodegeneration

7 April 2017

1 reference

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Neurons derived from reprogrammed fibroblasts functionally integrate into the fetal brain and improve symptoms of rats with Parkinson's disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Antisense oligonucleotide-directed inhibition of nonsense-mediated mRNA decay

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Nonsense-mediated decay in genetic disease: friend or foe?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Antisense oligonucleotide-based therapies for diseases caused by pre-mRNA processing defects

28 September 2017

1 reference

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Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Combination-targeting to multiple endothelial cell adhesion molecules modulates binding, endocytosis, and in vivo biodistribution of drug nanocarriers and their therapeutic cargoes

28 September 2017

1 reference

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Lysosomal storage diseases: Stem cell-based cell- and gene-therapy

28 September 2017

1 reference

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The phytoestrogen genistein modulates lysosomal metabolism and transcription factor EB (TFEB) activation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Evidence for aberrant astrocyte hemichannel activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL).

28 September 2017

1 reference

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Gene therapy for the neurological manifestations in lysosomal storage disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

2-Hydroxypropyl-β-cyclodextrin promotes transcription factor EB-mediated activation of autophagy: implications for therapy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Effective intravenous therapy for neurodegenerative disease with a therapeutic enzyme and a peptide that mediates delivery to the brain

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Clinical therapy using iPSCs: hopes and challenges

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Neuroprotection and lifespan extension in Ppt1(-/-) mice by NtBuHA: therapeutic implications for INCL

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Lysosomal storage diseases--the horizon expands

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Chronic oral administration of minocycline to sheep with ovine CLN6 neuronal ceroid lipofuscinosis maintains pharmacological concentrations in the brain but does not suppress neuroinflammation or disease progression

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

What else is in store for autophagy? Exocytosis of autolysosomes as a mechanism of TFEB-mediated cellular clearance in Pompe disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Mucopolysaccharide diseases: a complex interplay between neuroinflammation, microglial activation and adaptive immunity.

28 September 2017

1 reference

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Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Progress in gene therapy for neurological disorders.

28 September 2017

1 reference

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Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

28 September 2017

1 reference

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A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.

28 September 2017

1 reference

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The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Targeting RNA splicing for disease therapy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Nonsense-mediated mRNA decay - mechanisms of substrate mRNA recognition and degradation in mammalian cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Engineering a lysosomal enzyme with a derivative of receptor-binding domain of apoE enables delivery across the blood-brain barrier

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness

28 September 2017

1 reference

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Opening Pandora's jar: a primer on the putative roles of CRMP2 in a panoply of neurodegenerative, sensory and motor neuron, and central disorders.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

A high-throughput screening assay using Krabbe disease patient cells

28 September 2017

1 reference

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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.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

A derivative of the CRMP2 binding compound lanthionine ketimine provides neuroprotection in a mouse model of cerebral ischemia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Antisense-based therapy for the treatment of spinal muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Regulation of nonsense-mediated mRNA decay

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Comparative binding, endocytosis, and biodistribution of antibodies and antibody-coated carriers for targeted delivery of lysosomal enzymes to ICAM-1 versus transferrin receptor

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Gene therapy approaches for lysosomal storage disease: next-generation treatment

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Adeno-associated virus (AAV) gene therapy for neurological disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Dysregulation of gene expression in a lysosomal storage disease varies between brain regions implicating unexpected mechanisms of neuropathology

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis: amelioration by resveratrol

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

RNA therapeutics: beyond RNA interference and antisense oligonucleotides

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

The promise of induced pluripotent stem cells in research and therapy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

The Trojan Horse Liposome Technology for Nonviral Gene Transfer across the Blood-Brain Barrier

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Protective potential of resveratrol against oxidative stress and apoptosis in Batten disease lymphoblast cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Neural stem cell transplantation as a therapeutic approach for treating lysosomal storage diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Transcriptional activation of lysosomal exocytosis promotes cellular clearance

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Neural stem cell gene therapy ameliorates pathology and function in a mouse model of globoid cell leukodystrophy.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Large-volume intrathecal enzyme delivery increases survival of a mouse model of late infantile neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Preclinical differences of intravascular AAV9 delivery to neurons and glia: a comparative study of adult mice and nonhuman primates

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Collapsin response mediator protein-2: an emerging pathologic feature and therapeutic target for neurodisease indications

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Immunosuppression alters disease severity in juvenile Batten disease mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Emerging biological importance of central nervous system lanthionines.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Mucopolysaccharidosis IIIB, a lysosomal storage disease, triggers a pathogenic CNS autoimmune response

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Proteomic identification of binding partners for the brain metabolite lanthionine ketimine (LK) and documentation of LK effects on microglia and motoneuron cell cultures

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

New biotechnological and nanomedicine strategies for treatment of lysosomal storage disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Structural aspects of therapeutic enzymes to treat metabolic disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Neural stem cell transplantation benefits a monogenic neurometabolic disorder during the symptomatic phase of disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Moving towards therapies for juvenile Batten disease?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Neural stem cell implantation extends life in Niemann-Pick C1 mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Alterations in striatal dopamine catabolism precede loss of substantia nigra neurons in a mouse model of juvenile neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Lacosamide: a review of preclinical properties.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Stop-codon read-through for patients affected by a lysosomal storage disorder.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

The status of hematopoietic stem cell transplantation in lysosomal storage disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Rapid and highly efficient transduction by double-stranded adeno-associated virus vectors in vitro and in vivo

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Transdermal fentanyl therapy for pains in children with infantile neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Prevalence of lysosomal storage disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Selenium treatment in neuronal ceroid-lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Reversal of lysosomal storage in brain of adult MPS-I mice with intravenous Trojan horse-iduronidase fusion protein

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Survival advantage of neonatal CNS gene transfer for late infantile neuronal ceroid lipofuscinosis

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Injection of mouse and human neural stem cells into neonatal Niemann-Pick A model mice.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation.

31 May 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Melatonin ineffective in neuronal ceroid lipofuscinosis patients with fragmented or normal motor activity rhythms recorded by wrist actigraphy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Circadian rhythm studies in neuronal ceroid-lipofuscinosis (NCL).

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Bone marrow transplantation in late infantile Batten disease and juvenile Batten disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Europe gives gene therapy the green light

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

AAV2-mediated CLN2 gene transfer to rodent and non-human primate brain results in long-term TPP-I expression compatible with therapy for LINCL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Enhanced survival of the LINCL mouse following CLN2 gene transfer using the rh.10 rhesus macaque-derived adeno-associated virus vector.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Adeno-associated virus terminal repeat (TR) mutant generates self-complementary vectors to overcome the rate-limiting step to transduction in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Robust spinal motor neuron transduction following intrathecal delivery of AAV9 in pigs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Early treatment is associated with improved cognition in Hurler syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Intracerebellar transplantation of neural stem cells into mice with neurodegeneration improves neuronal networks with functional synaptic transmission

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Therapeutic effects of stem cells and substrate reduction in juvenile Sandhoff mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Deletion of tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Activation of non-neuronal cells within the prenatal developing brain of sheep with neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

IgG entry and deposition are components of the neuroimmune response in Batten disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Promising CNS-directed enzyme replacement therapy for lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Lanthionine ketimine ethyl ester partially rescues neurodevelopmental defects in unc-33 (DPYSL2/CRMP2) mutants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Vitamin E deficiency and metabolic deficits in neuronal ceroid lipofuscinosis described by bioinformatics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Molecular Trojan horses for blood-brain barrier drug delivery.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4833901

Delivery of Acid Sphingomyelinase in Normal and Niemann-Pick Disease Mice Using Intercellular Adhesion Molecule-1-Targeted Polymer Nanocarriers

28 November 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0414-2

Delivery of liposome-sequestered hydrophobic proteins to lysosomes of normal and Batten disease cells

21 January 2018

1 reference

12 December 2020

Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy

1 reference

12 December 2020

Allogenic bone marrow transplantation for late-infantile neuronal ceroid lipofuscinosis

1 reference

12 December 2020

Lamotrigine therapy in juvenile neuronal ceroid lipofuscinosis

1 reference

12 December 2020

Bright light suppresses melatonin in blind patients with neuronal ceroid-lipofuscinoses

1 reference

12 December 2020

Lamotrigine therapy in infantile neuronal ceroid lipofuscinosis (INCL)

1 reference

12 December 2020

TFEB regulates lysosomal proteostasis

1 reference

12 December 2020

Neuronal ceroid lipofuscinoses

1 reference

12 December 2020

Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report

1 reference

12 December 2020

Recombinant human tripeptidyl peptidase-1 infusion to the monkey CNS: safety, pharmacokinetics, and distribution

1 reference

12 December 2020

Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis

1 reference

12 December 2020

Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation

1 reference

12 December 2020

Bone marrow transplantation in Batten disease (neuronal ceroid-lipofuscinosis). Will it work? Preliminary studies on coculture experiments and on bone marrow transplant in late infantile Batten disease

1 reference

12 December 2020

10.1186/S13023-016-0414-2

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27083890%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

1 April 2020

1049862714

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27083890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

2 references