The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.

PubWeight™: 4.54‹?› | Rank: Top 1%

🔗 View Article (PMID 11586297)

Published in Nat Genet on October 01, 2001

Authors

Y Yang1, A Hentati, H X Deng, O Dabbagh, T Sasaki, M Hirano, W Y Hung, K Ouahchi, J Yan, A C Azim, N Cole, G Gascon, A Yagmour, M Ben-Hamida, M Pericak-Vance, F Hentati, T Siddique

Author Affiliations

1: Department of Neurology, Northwestern University Medical School, Chicago, Illinois, USA.

Associated clinical trials:

Efficacy and Tolerability of Tauroursodeoxycholic Acid in Amyotrophic Lateral Sclerosis (TUDCA-ALS) | NCT00877604

Articles citing this

(truncated to the top 100)

Lithium delays progression of amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2008) 5.37

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol (2008) 5.33

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature (2011) 4.56

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet (2004) 4.20

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet (2004) 3.72

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science (2015) 3.46

Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. J Cell Biol (2003) 3.40

The changing scene of amyotrophic lateral sclerosis. Nat Rev Neurosci (2013) 3.16

Amyotrophic lateral sclerosis. Orphanet J Rare Dis (2009) 2.76

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis. Nat Rev Neurol (2011) 2.73

Polymorphic cis- and trans-regulation of human gene expression. PLoS Biol (2010) 2.42

Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nat Rev Genet (2009) 2.31

The genetic epidemiology of neurodegenerative disease. J Clin Invest (2005) 2.08

Retrograde axonal transport: pathways to cell death? Trends Neurosci (2010) 2.06

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2009) 2.03

Kynurenine pathway metabolites in humans: disease and healthy States. Int J Tryptophan Res (2009) 2.01

Spongiform neurodegeneration-associated E3 ligase Mahogunin ubiquitylates TSG101 and regulates endosomal trafficking. Mol Biol Cell (2007) 1.75

Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients. BMC Genomics (2009) 1.72

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet (2002) 1.64

Endocytosis and signaling: cell logistics shape the eukaryotic cell plan. Physiol Rev (2012) 1.61

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol (2006) 1.60

An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. Am J Hum Genet (2005) 1.59

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet (2007) 1.58

Genome-wide epigenetic regulation by early-life trauma. Arch Gen Psychiatry (2012) 1.57

Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am J Hum Genet (2003) 1.56

Molecular and cellular pathways of neurodegeneration in motor neurone disease. J Neurol Neurosurg Psychiatry (2005) 1.55

Is the transportation highway the right road for hereditary spastic paraplegia? Am J Hum Genet (2002) 1.53

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis. J Lipid Res (2009) 1.50

Rho guanine nucleotide exchange factors: regulators of Rho GTPase activity in development and disease. Oncogene (2013) 1.44

Loss of ALS2 function is insufficient to trigger motor neuron degeneration in knock-out mice but predisposes neurons to oxidative stress. J Neurosci (2005) 1.43

Rho-linked genes and neurological disorders. Pflugers Arch (2007) 1.39

Mammalian molybdo-flavoenzymes, an expanding family of proteins: structure, genetics, regulation, function and pathophysiology. Biochem J (2003) 1.37

Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22. Am J Hum Genet (2003) 1.35

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

Vascular endothelial growth factor overexpression delays neurodegeneration and prolongs survival in amyotrophic lateral sclerosis mice. J Neurosci (2007) 1.33

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10. Am J Hum Genet (2003) 1.32

Metabolomic analysis and signatures in motor neuron disease. Metabolomics (2005) 1.31

Local-Circuit Phenotypes of Layer 5 Neurons in Motor-Frontal Cortex of YFP-H Mice. Front Neural Circuits (2008) 1.30

Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. Am J Hum Genet (2003) 1.29

Alterations in G(1) to S phase cell-cycle regulators during amyotrophic lateral sclerosis. Am J Pathol (2003) 1.27

Rodent models of TDP-43: recent advances. Brain Res (2012) 1.24

Als2-deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalities. Proc Natl Acad Sci U S A (2006) 1.21

Complex genetics of amyotrophic lateral sclerosis. Am J Hum Genet (2004) 1.20

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. J Med Genet (2013) 1.20

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology (2010) 1.19

The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci. PLoS One (2009) 1.19

A retrograde neuronal survival response: target-derived neurotrophins regulate MEF2D and bcl-w. J Neurosci (2009) 1.19

SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments. Mamm Genome (2011) 1.17

Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein. Neurogenetics (2006) 1.15

Therapeutic vaccine for acute and chronic motor neuron diseases: implications for amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2003) 1.14

Amyotrophic lateral sclerosis 2-deficiency leads to neuronal degeneration in amyotrophic lateral sclerosis through altered AMPA receptor trafficking. J Neurosci (2006) 1.13

Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking. PLoS One (2010) 1.12

FTD and ALS: a tale of two diseases. Curr Alzheimer Res (2011) 1.12

Nonsense-mediated decay in genetic disease: friend or foe? Mutat Res Rev Mutat Res (2014) 1.10

Motor neurone disease. Postgrad Med J (2002) 1.06

Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease. J Cell Biol (2002) 1.05

The complex molecular biology of amyotrophic lateral sclerosis (ALS). Prog Mol Biol Transl Sci (2012) 1.05

Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease. Proc Natl Acad Sci U S A (2003) 1.03

A common haplotype within the PON1 promoter region is associated with sporadic ALS. Amyotroph Lateral Scler (2008) 1.02

Progression in primary lateral sclerosis: a prospective analysis. Amyotroph Lateral Scler (2009) 1.02

Hypertonia-associated protein Trak1 is a novel regulator of endosome-to-lysosome trafficking. J Mol Biol (2008) 0.99

Diagnostic investigation and multidisciplinary management in motor neuron disease. J Neurol (2005) 0.98

Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis. J Neurol (2009) 0.96

Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase. PLoS Genet (2009) 0.96

Caenorhabditis elegans RNA-processing protein TDP-1 regulates protein homeostasis and life span. J Biol Chem (2012) 0.96

Measures and markers in amyotrophic lateral sclerosis. NeuroRx (2004) 0.96

Mutant HFE H63D protein is associated with prolonged endoplasmic reticulum stress and increased neuronal vulnerability. J Biol Chem (2011) 0.95

The small heat shock proteins αB-crystallin and Hsp27 suppress SOD1 aggregation in vitro. Cell Stress Chaperones (2012) 0.95

Calcium binding is essential for plastin 3 function in Smn-deficient motoneurons. Hum Mol Genet (2013) 0.94

Sporadic ALS is not associated with VAPB gene mutations in Southern Italy. J Negat Results Biomed (2006) 0.94

Insulin-like growth factor-I for the treatment of amyotrophic lateral sclerosis. Amyotroph Lateral Scler (2009) 0.94

New considerations in the design of clinical trials for amyotrophic lateral sclerosis. Clin Investig (Lond) (2011) 0.94

The wobbler mouse, an ALS animal model. Mol Genet Genomics (2013) 0.92

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet (2009) 0.92

Role of mitochondria in mutant SOD1 linked amyotrophic lateral sclerosis. Biochim Biophys Acta (2014) 0.92

Alsin and SOD1(G93A) proteins regulate endosomal reactive oxygen species production by glial cells and proinflammatory pathways responsible for neurotoxicity. J Biol Chem (2011) 0.91

A fruitful endeavor: modeling ALS in the fruit fly. Brain Res (2014) 0.91

Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP). Neurogenetics (2008) 0.91

Familial amyotrophic lateral sclerosis, a historical perspective. Acta Myol (2011) 0.90

Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations. Arch Neurol (2011) 0.89

Endosomal accumulation of APP in wobbler motor neurons reflects impaired vesicle trafficking: implications for human motor neuron disease. BMC Neurosci (2011) 0.89

Targeting angiogenin in therapy of amyotropic lateral sclerosis. Expert Opin Ther Targets (2008) 0.89

Experimental models for the study of neurodegeneration in amyotrophic lateral sclerosis. Mol Neurodegener (2009) 0.89

Rac1 at the crossroad of actin dynamics and neuroinflammation in Amyotrophic Lateral Sclerosis. Front Cell Neurosci (2014) 0.88

Adenylyl cyclase type 3, a marker of primary cilia, is reduced in primary cell culture and in lumbar spinal cord in situ in G93A SOD1 mice. BMC Neurosci (2011) 0.88

Redox modifier genes and pathways in amyotrophic lateral sclerosis. Antioxid Redox Signal (2009) 0.88

Neuromuscular effects of G93A-SOD1 expression in zebrafish. Mol Neurodegener (2012) 0.88

Alsin related disorders: literature review and case study with novel mutations. Case Rep Genet (2014) 0.88

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis. PLoS Genet (2014) 0.87

Aberrant regulation of DNA methylation in amyotrophic lateral sclerosis: a new target of disease mechanisms. Neurotherapeutics (2013) 0.86

Redox regulation in amyotrophic lateral sclerosis. Oxid Med Cell Longev (2013) 0.86

Transgenic animal models of neurodegeneration based on human genetic studies. J Neural Transm (Vienna) (2010) 0.85

Rabex-5 protein regulates dendritic localization of small GTPase Rab17 and neurite morphogenesis in hippocampal neurons. J Biol Chem (2013) 0.85

The multifaceted role of glial cells in amyotrophic lateral sclerosis. Cell Mol Life Sci (2013) 0.85

Regulation of endosomal motility and degradation by amyotrophic lateral sclerosis 2/alsin. Mol Brain (2009) 0.85

Autophagy and Neurodegeneration: Insights from a Cultured Cell Model of ALS. Cells (2015) 0.84

Homozygosity analysis in amyotrophic lateral sclerosis. Eur J Hum Genet (2013) 0.84

Identification of pharmacological targets in amyotrophic lateral sclerosis through genomic analysis of deregulated genes and pathways. Curr Genomics (2012) 0.84

Loss of vps54 function leads to vesicle traffic impairment, protein mis-sorting and embryonic lethality. Int J Mol Sci (2013) 0.84

Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP). Orphanet J Rare Dis (2013) 0.84

Articles by these authors

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature (1993) 21.65

Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science (1994) 18.08

Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci U S A (1993) 15.04

Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN. Cell (1998) 13.98

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science (2009) 13.45

A physical map of the human genome. Nature (2001) 12.39

The DNA sequence of human chromosome 21. Nature (2000) 10.66

Small GTP-binding proteins. Physiol Rev (2001) 9.52

TRAF6 deficiency results in osteopetrosis and defective interleukin-1, CD40, and LPS signaling. Genes Dev (1999) 6.93

Hd1, a major photoperiod sensitivity quantitative trait locus in rice, is closely related to the Arabidopsis flowering time gene CONSTANS. Plant Cell (2000) 6.93

A high-density rice genetic linkage map with 2275 markers using a single F2 population. Genetics (1998) 6.82

High cancer susceptibility and embryonic lethality associated with mutation of the PTEN tumor suppressor gene in mice. Curr Biol (1998) 6.38

Condensins, chromosome condensation protein complexes containing XCAP-C, XCAP-E and a Xenopus homolog of the Drosophila Barren protein. Cell (1997) 5.86

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science (1993) 5.78

Identification of Xenopus SMC protein complexes required for sister chromatid cohesion. Genes Dev (1998) 5.78

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature (2000) 5.71

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med (1999) 5.61

Essential role of the mitochondrial apoptosis-inducing factor in programmed cell death. Nature (2001) 5.07

Induction of filopodium formation by a WASP-related actin-depolymerizing protein N-WASP. Nature (1998) 4.95

Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease. Proc Natl Acad Sci U S A (1993) 4.86

T cell-specific loss of Pten leads to defects in central and peripheral tolerance. Immunity (2001) 4.62

The osteoclast differentiation factor osteoprotegerin-ligand is essential for mammary gland development. Cell (2000) 4.53

GTP-dependent segregation of H-ras from lipid rafts is required for biological activity. Nat Cell Biol (2001) 4.42

Origin of osteoclasts: mature monocytes and macrophages are capable of differentiating into osteoclasts under a suitable microenvironment prepared by bone marrow-derived stromal cells. Proc Natl Acad Sci U S A (1990) 4.40

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet (1998) 4.38

Osteoblastic cells are involved in osteoclast formation. Endocrinology (1988) 4.37

Regulation of cell-cell adhesion by rac and rho small G proteins in MDCK cells. J Cell Biol (1997) 4.27

Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. Am J Hum Genet (1991) 4.19

Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology (2006) 4.11

Negative regulation of lymphocyte activation and autoimmunity by the molecular adaptor Cbl-b. Nature (2000) 4.08

Regulation mechanism of ERM (ezrin/radixin/moesin) protein/plasma membrane association: possible involvement of phosphatidylinositol turnover and Rho-dependent signaling pathway. J Cell Biol (1996) 4.06

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science (1999) 4.05

Golgi tubule traffic and the effects of brefeldin A visualized in living cells. J Cell Biol (1997) 3.91

Phosphorylation and activation of 13S condensin by Cdc2 in vitro. Science (1998) 3.89

Regulation of cytoplasmic division of Xenopus embryo by rho p21 and its inhibitory GDP/GTP exchange protein (rho GDI). J Cell Biol (1993) 3.87

Angiogenic and HIV-inhibitory functions of KSHV-encoded chemokines. Science (1997) 3.70

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science (1995) 3.66

Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med (1991) 3.45

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet (2000) 3.35

Regulation of protein kinase B/Akt-serine 473 phosphorylation by integrin-linked kinase: critical roles for kinase activity and amino acids arginine 211 and serine 343. J Biol Chem (2001) 3.32

Skin and hair follicle integrity is crucially dependent on beta 1 integrin expression on keratinocytes. EMBO J (2000) 3.32

Direct interaction of the Rho GDP dissociation inhibitor with ezrin/radixin/moesin initiates the activation of the Rho small G protein. J Biol Chem (1997) 3.08

Rice gibberellin-insensitive dwarf mutant gene Dwarf 1 encodes the alpha-subunit of GTP-binding protein. Proc Natl Acad Sci U S A (1999) 2.97

Involvement of rho p21 in the GTP-enhanced calcium ion sensitivity of smooth muscle contraction. J Biol Chem (1992) 2.90

Cerebral vasospasm following aneurysmal subarachnoid hemorrhage. Stroke (1985) 2.89

The bone marrow-derived stromal cell lines MC3T3-G2/PA6 and ST2 support osteoclast-like cell differentiation in cocultures with mouse spleen cells. Endocrinology (1989) 2.83

Bni1p and Bnr1p: downstream targets of the Rho family small G-proteins which interact with profilin and regulate actin cytoskeleton in Saccharomyces cerevisiae. EMBO J (1997) 2.80

Large-scale EST sequencing in rice. Plant Mol Biol (1997) 2.80

Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients. Mol Psychiatry (2005) 2.78

Involvement of rho p21 and its inhibitory GDP/GTP exchange protein (rho GDI) in cell motility. Mol Cell Biol (1993) 2.71

Morphological structure of the vocal cord as a vibrator and its variations. Folia Phoniatr (Basel) (1974) 2.62

Rab GDP dissociation inhibitor as a general regulator for the membrane association of rab proteins. J Biol Chem (1993) 2.62

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet (1999) 2.59

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp Neurol (1989) 2.58

Rapid reorganization of resistance gene homologues in cereal genomes. Proc Natl Acad Sci U S A (1998) 2.53

Characteristics of macrolide-resistant Mycoplasma pneumoniae strains isolated from patients and induced with erythromycin in vitro. Microbiol Immunol (2001) 2.52

Rho as a regulator of the cytoskeleton. Trends Biochem Sci (1995) 2.52

Clinical characteristics of African Americans vs Caucasian Americans with multiple sclerosis. Neurology (2004) 2.50

Expression of Xa1, a bacterial blight-resistance gene in rice, is induced by bacterial inoculation. Proc Natl Acad Sci U S A (1998) 2.49

MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol (1992) 2.48

CD45 is a JAK phosphatase and negatively regulates cytokine receptor signalling. Nature (2001) 2.47

Paraoxonase cluster polymorphisms are associated with sporadic ALS. Neurology (2006) 2.38

A new probe for the diagnosis of myotonic muscular dystrophy. Science (1987) 2.35

Translocation of activated Rho from the cytoplasm to membrane ruffling area, cell-cell adhesion sites and cleavage furrows. Oncogene (1995) 2.32

SHIP is a negative regulator of growth factor receptor-mediated PKB/Akt activation and myeloid cell survival. Genes Dev (1999) 2.31

An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics (1992) 2.29

Endostatin inhibits VEGF-induced endothelial cell migration and tumor growth independently of zinc binding. EMBO J (1999) 2.28

Isolation and characterization of a novel actin filament-binding protein from Saccharomyces cerevisiae. Oncogene (1998) 2.27

Vav is a regulator of cytoskeletal reorganization mediated by the T-cell receptor. Curr Biol (1998) 2.26

Cloning and characterization of cell adhesion kinase beta, a novel protein-tyrosine kinase of the focal adhesion kinase subfamily. J Biol Chem (1995) 2.26

CAKbeta/Pyk2 kinase is a signaling link for induction of long-term potentiation in CA1 hippocampus. Neuron (2001) 2.22

Hd6, a rice quantitative trait locus involved in photoperiod sensitivity, encodes the alpha subunit of protein kinase CK2. Proc Natl Acad Sci U S A (2001) 2.22

Risk factors for primary dysfunction after liver transplantation--a multivariate analysis. Transplantation (1993) 2.20

Mmh/Ogg1 gene inactivation results in accumulation of 8-hydroxyguanine in mice. Proc Natl Acad Sci U S A (2000) 2.19

The Pib gene for rice blast resistance belongs to the nucleotide binding and leucine-rich repeat class of plant disease resistance genes. Plant J (1999) 2.18

Suppression of the heterotrimeric G protein causes abnormal morphology, including dwarfism, in rice. Proc Natl Acad Sci U S A (1999) 2.15

Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology (2001) 2.13

rac p21 is involved in insulin-induced membrane ruffling and rho p21 is involved in hepatocyte growth factor- and 12-O-tetradecanoylphorbol-13-acetate (TPA)-induced membrane ruffling in KB cells. Mol Cell Biol (1994) 2.12

Identification of a new variable sequence in the P1 cytadhesin gene of Mycoplasma pneumoniae: evidence for the generation of antigenic variation by DNA recombination between repetitive sequences. Infect Immun (1999) 2.11

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA (2000) 2.08

VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel-Lindau disease. Neurology (1999) 2.08

A vital role for glycosphingolipid synthesis during development and differentiation. Proc Natl Acad Sci U S A (1999) 2.05

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet (1995) 2.03

An informative linkage map of soybean reveals QTLs for flowering time, leaflet morphology and regions of segregation distortion. DNA Res (2001) 2.03

Role of vascular endothelial growth factor C expression in the development of lymph node metastasis in gastric cancer. Clin Cancer Res (1999) 2.03

INE: a rice genome database with an integrated map view. Nucleic Acids Res (2000) 2.00

A putative Ca2+-binding protein: structure of the light subunit of porcine calpain elucidated by molecular cloning and protein sequence analysis. Proc Natl Acad Sci U S A (1985) 1.99

Infusion of platelets transiently reduces nucleoside overload in MNGIE. Neurology (2006) 1.98

Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes. EMBO J (1990) 1.98

'Outbreak' of optic and peripheral neuropathy in Cuba? JAMA (1993) 1.97

The integrin alpha(9)beta(1) binds to a novel recognition sequence (SVVYGLR) in the thrombin-cleaved amino-terminal fragment of osteopontin. J Biol Chem (1999) 1.97

Numbers and proportions of GABA-immunoreactive neurons in different areas of monkey cerebral cortex. J Neurosci (1987) 1.95