Associated Papers
Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review.
Wang Y et al.
Frontiers in Genetics, 2025
Role of Seipin in Human Diseases and Experimental Animal Models.
Li Y et al.
Biomolecules, 2022
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
Sánchez-Iglesias S et al.
Neurogenetics, 2019
Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy.
Araújo-Vilar D et al.
European Journal of Human Genetics : Ejhg, 2018
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.
Haghighi A et al.
Clinical Genetics, 2016
Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.
Ruiz-Riquelme A et al.
Neurobiology of Disease, 2015
Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience.
Araujo-Vilar D et al.
Endocrine, 2015
A new seipin-associated neurodegenerative syndrome.
Guillén-Navarro E et al.
Journal of Medical Genetics, 2013
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.
Craveiro Sarmento AS et al.
Mutation Research. Reviews in Mutation Research, 0
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