Associated Papers
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_6_P_LP
Lipodystrophy for the Diabetologist-What to Look For.
Patni N et al.
Current Diabetes Reports, 2022
Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas.
Valera ET et al.
Acta Neuropathologica, 2018
30143858 (PubMed )
Supplement: 401_2018_1898_MOESM2_ESM.xlsx › All
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.
Haghighi A et al.
Clinical Genetics, 2016
Seipin: from human disease to molecular mechanism.
Cartwright BR et al.
Journal of Lipid Research, 2012
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.
Miranda DM et al.
Clinical Endocrinology, 2009
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