Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis.

Authors:
Azad B; Efthymiou S; Sultan T; Scala M; Alvi JR and 5 more

Journal:
J Neurol Sci

Publication Year: 2020

DOI:
10.1016/j.jns.2020.116826

PMCID:
PMC7306150

PMID:
32302805

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Journal Information

Full Title: J Neurol Sci

Abbreviation: J Neurol Sci

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Neurology

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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"Funding BA is supported by the Higher Education Commission (HEC) in Pakistan with award IRSIP (grant no 1-8/HEC/HRD/2019/8770:IRSIP 43 BMS 64). HH is supported by the Rosetree Trust, 10.13039/501100000346Ataxia UK, 10.13039/100013128MSA Trust, 10.13039/100013790Brain Research UK, 10.13039/100011724Muscular Dystrophy UK, 10.13039/100005202Muscular Dystrophy Association (MDA USA), 10.13039/501100010221Higher Education Commission of Pakistan, The MRC (MR/S01165X/1, MR/S005021/1, G0601943), 10.13039/100010269Wellcome Trust (WT093205MA, WT104033AIA and the Synaptopathies Strategic Award, 165908) and the 10.13039/501100000272National Institute for Health Research 10.13039/501100012317University College London Hospitals Biomedical Research Centre."

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Last Updated: Aug 05, 2025