Associated Papers
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 2025
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
TOLLIP acts as a cargo adaptor to promote lysosomal degradation of aberrant ER membrane proteins.
Hayashi Y et al.
The Embo Journal, 2023
A rare double diagnosis identified via exome sequencing in a patient with complex cerebellar ataxia: a case report.
Thomas Q et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
A motor neuron disease-associated mutation produces non-glycosylated Seipin that induces ER stress and apoptosis by inactivating SERCA2b.
Saito S et al.
Elife, 2022
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
Thomas Q et al.
Journal of Medical Genetics, 2022
Rare among Rare: Phenotypes of Uncommon CMT Genotypes.
Gentile L et al.
Brain Sciences, 2021
Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.
Hauw F et al.
European Journal of Neurology, 2021
Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.
Sánchez-Iglesias S et al.
Journal of Clinical Medicine, 2021
Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
Ishihara S et al.
Journal of the Peripheral Nervous System : Jpns, 2020
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy.
Fernández-Marmiesse A et al.
Seizure, 2019
Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.
Lu C et al.
Journal of Molecular Medicine (berlin, Germany), 2018
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.
Musacchio T et al.
Journal of Neurology, 2017
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Laššuthová P et al.
Orphanet Journal of Rare Diseases, 2016
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy.
Hsiao CT et al.
Plos One, 2016
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
Drew AP et al.
Molecular Genetics & Genomic Medicine, 2015
Clinical and electrophysiological features in a French family presenting with seipinopathy.
Ollivier Y et al.
Neuromuscular Disorders : Nmd, 2015
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
Ishiura H et al.
Journal of Human Genetics, 2014
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.
Chaudhry R et al.
Muscle & Nerve, 2013
Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2.
Choi BO et al.
Neurogenetics, 2013
Seipin: from human disease to molecular mechanism.
Cartwright BR et al.
Journal of Lipid Research, 2012
Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis.
Fei W et al.
Journal of Lipid Research, 2011
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
Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes.
Brugman F et al.
Journal of Neurology, 2009
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Dierick I et al.
Brain : a Journal of Neurology, 2008
Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.
Ito D et al.
Annals of Neurology, 2007
Molecular genetics of distal hereditary motor neuropathies.
Irobi J et al.
Human Molecular Genetics, 2004
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Windpassinger C et al.
Nature Genetics, 2004