Published in Nat Genet on February 22, 2004
The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. Proc Natl Acad Sci U S A (2007) 3.11
Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast. J Cell Biol (2008) 2.85
Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nat Rev Genet (2009) 2.31
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol (2013) 2.30
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Atlastin GTPases are required for Golgi apparatus and ER morphogenesis. Hum Mol Genet (2008) 2.28
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ATP7A-related copper transport diseases-emerging concepts and future trends. Nat Rev Neurol (2011) 2.01
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The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet (2007) 1.33
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am J Hum Genet (2013) 1.32
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. Endocrinology (2009) 1.32
Tissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formation. PLoS Genet (2011) 1.30
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Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. Mol Cell Biol (2012) 1.17
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet (2012) 1.16
Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis. J Lipid Res (2011) 1.14
Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets. BMC Biol (2010) 1.14
Seipin: from human disease to molecular mechanism. J Lipid Res (2012) 1.12
Seipin is a discrete homooligomer. Biochemistry (2010) 1.09
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy. Hum Mol Genet (2011) 1.09
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RNA processing defects associated with diseases of the motor neuron. Muscle Nerve (2010) 0.99
Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy. Neurology (2012) 0.99
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. Mol Genet Genomic Med (2015) 0.99
Seipin performs dissectible functions in promoting lipid droplet biogenesis and regulating droplet morphology. Mol Biol Cell (2014) 0.97
A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. Neurogenetics (2006) 0.97
Congenital generalized lipodystrophies--new insights into metabolic dysfunction. Nat Rev Endocrinol (2015) 0.96
Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family. Diagn Pathol (2013) 0.94
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. J Neurol (2011) 0.93
Obesity and lipodystrophy--where do the circles intersect? Endocrinology (2008) 0.91
Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia. J Clin Invest (2005) 0.91
Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia. J Biol Chem (2014) 0.89
Proteome-wide analysis of single-nucleotide variations in the N-glycosylation sequon of human genes. PLoS One (2012) 0.89
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Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. Muscle Nerve (2013) 0.85
The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation. Neurol Sci (2008) 0.85
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish. Neurogenetics (2010) 0.85
Towards a mechanistic understanding of lipodystrophy and seipin functions. Biosci Rep (2014) 0.85
Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. J Inherit Metab Dis (2005) 0.84
Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP). Orphanet J Rare Dis (2013) 0.84
Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia. PLoS One (2012) 0.83
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? Neurogenetics (2009) 0.83
Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons. Neurogenetics (2010) 0.82
Charcot-Marie-Tooth disease and intracellular traffic. Prog Neurobiol (2012) 0.81
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy. BMC Med Genet (2014) 0.80
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. Am J Hum Genet (2016) 0.80
Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2. Eur J Hum Genet (2012) 0.80
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. Orphanet J Rare Dis (2016) 0.79
Neuroanatomical characterisation of the expression of the lipodystrophy and motor-neuropathy gene Bscl2 in adult mouse brain. PLoS One (2012) 0.78
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. JIMD Rep (2011) 0.78
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. JAMA Neurol (2015) 0.78
Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes. J Neurol (2009) 0.77
Suppression of adipogenesis by pathogenic seipin mutant is associated with inflammatory response. PLoS One (2013) 0.77
Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study. PLoS One (2016) 0.77
Berardinelli-Seip Congenital Lipodystrophy 2/Seipin Is Not Required for Brown Adipogenesis but Regulates Brown Adipose Tissue Development and Function. Mol Cell Biol (2016) 0.77
Motor neuron degeneration in a mouse model of seipinopathy. Cell Death Dis (2013) 0.76
Spastin, atlastin, and ER relocalization are involved in axon but not dendrite regeneration. Mol Biol Cell (2016) 0.76
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. Orphanet J Rare Dis (2013) 0.76
Berardinelli-Seip congenital lipodystrophy in two siblings. Indian Dermatol Online J (2014) 0.76
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy. PLoS One (2016) 0.75
Clinical diversity caused by novel IGHMBP2 variants. J Hum Genet (2017) 0.75
Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient. Iran Biomed J (2016) 0.75
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain (2017) 0.75
Silver syndrome. BMJ (2007) 0.75
Energy balance in congenital generalized lipodystrophy type I. Metabolism (2008) 0.75
High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome. Am J Med Genet A (2016) 0.75
Seipin mutation at glycosylation sites activates autophagy in transfected cells via abnormal large lipid droplets generation. Acta Pharmacol Sin (2015) 0.75
Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease. Acta Neuropathol Commun (2017) 0.75
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. PLoS One (2017) 0.75
Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies. Front Mol Neurosci (2017) 0.75
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. J Neurol (2016) 0.75
Fat-containing cells are eliminated during Dictyostelium development. Biol Open (2017) 0.75
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet (2004) 7.45
novoSNP, a novel computational tool for sequence variation discovery. Genome Res (2005) 7.42
Novel cancer immunotherapy agents with survival benefit: recent successes and next steps. Nat Rev Cancer (2011) 6.44
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol (2011) 5.01
Cost of disorders of the brain in Europe 2010. Eur Neuropsychopharmacol (2011) 4.63
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell (2010) 4.37
Identification of modulators of TRAIL-induced apoptosis via RNAi-based phenotypic screening. Mol Cell (2003) 4.25
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet (2004) 3.72
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol (2008) 3.49
Derivation and feeder-free propagation of human embryonic stem cells under xeno-free conditions. Cytotherapy (2011) 3.47
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet (2003) 3.22
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat Genet (2003) 3.15
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet (2006) 3.04
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med (2010) 3.01
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet (2004) 3.00
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet (2002) 2.90
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet (2004) 2.86
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet (2005) 2.79
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Genomics (2003) 2.69
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet (2003) 2.69
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SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet (2002) 2.27
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet (2009) 2.22
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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS Genet (2009) 2.12
Kisspeptin-10, a KiSS-1/metastin-derived decapeptide, is a physiological invasion inhibitor of primary human trophoblasts. J Cell Sci (2004) 2.08
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet (2002) 2.07
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul Disord (2007) 2.03
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol (2006) 1.98
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci (2012) 1.97
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol (2009) 1.94
Strategy for the creation of clinical grade hESC line banks that HLA-match a target population. EMBO Mol Med (2012) 1.93
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat (2003) 1.89
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet (2012) 1.85
The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding. J Biol Chem (2008) 1.80
The genetics of Dravet syndrome. Epilepsia (2011) 1.77
First clinical evaluation of the C-MAC D-Blade videolaryngoscope during routine and difficult intubation. Anesth Analg (2010) 1.77
α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta Neuropathol (2013) 1.75
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci U S A (2007) 1.74
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet (2003) 1.72
RAD21 mutations cause a human cohesinopathy. Am J Hum Genet (2012) 1.72
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet (2003) 1.70
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet (2010) 1.70
TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. Am J Med Genet (2002) 1.69
Mutations in SEPT9 cause hereditary neuralgic amyotrophy. Nat Genet (2005) 1.68
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet (2011) 1.66
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