Management of CLN1 Disease: International Clinical Consensus-Reference-Cited by-同舟云学术

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Management of CLN1 Disease: International Clinical Consensus

Published:2021-07 Issue: Volume:120 Page:38-51
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Augustine Erika F.^ORCID,Adams Heather R.,de los Reyes Emily,Drago Kristen,Frazier Margie,Guelbert Norberto,Laine Minna^ORCID,Levin Tanya^ORCID,Mink Jonathan W.^ORCID,Nickel Miriam,Peifer Danielle^ORCID,Schulz Angela,Simonati Alessandro^ORCID,Topcu Meral,Turunen Joni A.^ORCID,Williams Ruth,Wirrell Elaine C.^ORCID,King Sharon

Funder

Beyond Batten Disease Foundation

Teva Pharmaceutical Industries

Abeona Therapeutics

BioMarin Pharmaceutical

Batten Disease Support and Research Association

Taylor's Tale

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference110 articles.

1. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis;Vesa;Nature,1995

2. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses;Williams;Neurology,2012

3. Screening, diagnosis and epidemiology of Batten disease;Simpson;Expert Opin Orphan Drugs,2014

4. Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis;Sleat;Gene,2016

5. Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy;Santorelli;Orphanet J Rare Dis,2013

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Reduction of neuroinflammation and seizures in a mouse model of CLN1 batten disease using the small molecule enzyme mimetic, N-Tert-butyl hydroxylamine;Molecular Genetics and Metabolism;2024-09

2. Reduction of Neuroinflammation and Seizures in a Mouse Model of CLN1 Batten Disease using the Small Molecule Enzyme Mimetic, N-Tert-Butyl Hydroxylamine;2024-05-01

3. Behaviours and psychological symptoms of childhood dementia: two cases of psychosocial interventions;Palliative Care and Social Practice;2024-01

4. Loss of Depalmitoylation Disrupts Homeostatic Plasticity of AMPARs in a Mouse Model of Infantile Neuronal Ceroid Lipofuscinosis;The Journal of Neuroscience;2023-10-26

5. Developing Treatments for Rare Diseases on a Shoestring;GEN Biotechnology;2023-10-01

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