Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings-Reference-Cited by-同舟云学术

Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings

Published:2023-02-03 Issue:5 Volume:94 Page:405-408
ISSN:0022-3050
Container-title:Journal of Neurology, Neurosurgery & Psychiatry
language:en
Short-container-title:J Neurol Neurosurg Psychiatry

Author:

Paiva Anderson Rodrigues Brandão de^ORCID,Pessoa André Luiz Santos,Nóbrega Paulo Ribeiro,Moreno Cristiane Araujo Martins,Lynch David S^ORCID,Taniguti Lucas Mitsuo,Kitajima João Paulo,Freua Fernando^ORCID,Della-Ripa Bruno,Cunha Paulina,Peixoto de Barcelos Isabella,Macedo-Souza Lúcia Inês,Takeuchi Carlos Augusto,Garcia Antônio Milton Silva,Nardes Flávia,Fontão Ramiro,Antoniuk Sérgio Antônio,Troncoso Monica^ORCID,Spécola Norma,Durand Consuelo,Madeiro Bianca de Aguiar Coelho Silva,Doriqui Maria Juliana Rodovalho,Vergara Diane,Houlden Henry^ORCID,Kok Fernando

Publisher

BMJ

Subject

Psychiatry and Mental health,Neurology (clinical),Surgery

Reference5 articles.

1. A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis;Basak;Cell Mol Life Sci,2021

2. Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5;Simonati;Dev Med Child Neurol,2017

3. Luebben AV , Bender D , Becker S , et al . Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration. Sci Adv 2022;8:eabj8633. doi:10.1126/sciadv.abj8633

4. Guelbert G , Venier AC , Cismondi IA , et al . Neuronal ceroid lipofuscinosis in the South American-Caribbean region: an epidemiological overview. Front Neurol 2022;13:920421. doi:10.3389/fneur.2022.920421

5. Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations

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