BSCL2

Publications

Auer-grumbach M et al. Phenotypes of the N88S Berardinelli–Seip congenital lipodystrophy 2 mutation. Ann Neurol. 2005;57(3):415–424. PMID: 15732094.

Chen B et al. Clincial and pathologi- cal study of distal motor neuropathy with N88S mutation in BSCL2. Neuropathology. 2009;29(5): 543–547. PMID: 19323790.

Cho H et al. Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. Muscle Nerve. 2007;36(3):384–386. PMID: 17486577.

Choi B et al. Clinical and histopathological study of Charcot–Marie–Tooth neuropathy with a novel S90W mutation in BSCL2. Neurogenetics. 2013;14(1):35–42. PMID: 23142943.

Fernández-Eulate G et al. Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study. Eur J Neurol. 2020;27(8):1364-1373. PMID: 32320108.

Hsiao C et al. Clinical and molecular characterization of BSCL2 mutations in a Taiwanese cohort with hereditary neuropathy. PLoS One. 2016;11(1):1–12. PMID: 26815532.

Irobi J et al. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain. 2004;127(Pt 9):2124–2130. PMID: 15242882.

Ito D et al. Seipinopathy: a novel endoplasmic reticulum stress-associated disease. Brain. 2009;132(Pt 1):8–15. PMID: 18790819.

Van de Warrenburg B et al. BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. Neuromuscul Disord. 2006;16(2):122–125. PMID: 16427281.

Silver JR. Familial spastic paraplegia with amyotrophy of the hands. Ann Hum Genet. 1966;30(1):69–75. PMID: 5964029.

Szymanski KM et al. The lipodystro- phy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. Proc Natl Acad Sci USA. 2007;104(52):20890–20895. PMID: 18093937.

Windpassinger C et al. Heterozygous missense mutations in BSCL2 are associ- ated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004;36(3):271–276. PMID: 14981520.