Associated Papers
The first report of ceroid lipofuscinosis type 11 in China: a novel mutation of GRN and updated clinical review.
Shi D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Clinical and Genetic Characteristics of Patients with Essential Tremor Who Develop Parkinson's Disease.
Buyukserbetci G et al.
Medicina (kaunas, Lithuania), 2025
A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-α biologic therapy.
Kennedy JC et al.
Med (new York, N.y.), 2025
Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature.
Sürücü Kara İ et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2024
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen YP et al.
Journal of Medical Genetics, 2022
34544842 (PubMed )
Supplement: jmedgenet-2021-107965supp003.pdf
The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies.
Isik E et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
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