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X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/ajmg.1320170126openalex-snapshot
X‐linked mental retardation associated with bilateral clasp thumb anomaly
inferredcites →https://doi.org/10.1002/ajmg.1320170127openalex-snapshot
Mental retardation‐clasped thumb syndrome
inferredcites →https://doi.org/10.1002/ajmg.1320360222openalex-snapshot
Complicated hereditary spastic paraparesis with cerebral white matter lesions
inferredcites →https://doi.org/10.1002/ajmg.1320410104openalex-snapshot
MASA syndrome: Clinical variability and linkage analysis
inferredcites →https://doi.org/10.1002/ajmg.1320430162openalex-snapshot
Clasped‐thumb mental retardation (MASA) syndrome: Confirmation of linkage to Xq28
inferredcites →https://doi.org/10.1007/bf00273999openalex-snapshot
MASA syndrome: further clinical delineation and chromosomal localisation
inferredcites →https://doi.org/10.1007/bf00401241openalex-snapshot
Linkage studies of X-linked recessive spastic paraplegia using DNA probes
inferredcites →https://doi.org/10.1007/bf02919404openalex-snapshot
Variants of human L1 cell adhesion molecule arise through alternate splicing of RNA
inferredcites →https://doi.org/10.1016/0014-5793(91)80915-popenalex-snapshot
Molecular cloning of cDNA encoding the rat neural cell adhesion molecule L1 Two L1 isoforms in the cytoplasmic region are produced by differential splicing
inferredcites →https://doi.org/10.1016/0304-3940(89)90666-6openalex-snapshot
Immunocytochemical localization of cell adhesion molecule L1 in developing rat pyramidal tract
inferredcites →https://doi.org/10.1016/0888-7543(90)90294-5openalex-snapshot
Assignment of X-linked hydrocephalus to Xq28 by linkage analysis
inferredcites →https://doi.org/10.1016/0888-7543(91)90150-dopenalex-snapshot
Molecular structure and functional testing of human L1CAM: An interspecies comparison
inferredcites →https://doi.org/10.1016/0888-7543(92)90377-5openalex-snapshot
Detecting single base substitutions as heteroduplex polymorphisms
inferredcites →https://doi.org/10.1016/0896-6273(89)90048-2openalex-snapshot
L1-mediated axon outgrowth occurs via a homophilic binding mechanism
inferredcites →https://doi.org/10.1016/0896-6273(89)90111-6openalex-snapshot
Neural cell adhesion molecules influence second messenger systems
inferredcites →https://doi.org/10.1016/0896-6273(92)90197-lopenalex-snapshot
Neural cell adhesion molecules modulate tyrosine phosphorylation of tubulin in nerve growth cone membranes
inferredcites →https://doi.org/10.1016/0955-0674(89)90056-2openalex-snapshot
Neural-cell-to-cell adhesion and recognition
inferredcites →https://doi.org/10.1016/0959-4388(91)90055-copenalex-snapshot
Cell adhesion molecules and their subgroups in the nervous system
inferredcites →https://doi.org/10.1016/s0888-7543(05)80254-xopenalex-snapshot
The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52
inferredcites →https://doi.org/10.1038/305427a0openalex-snapshot
L1 mono- and polyclonal antibodies modify cell migration in early postnatal mouse cerebellum
inferredcites →https://doi.org/10.1038/334701a0openalex-snapshot
Neural adhesion molecule L1 as a member of the immunoglobulin superfamily with binding domains similar to fibronectin
inferredcites →https://doi.org/10.1038/ng0394-257openalex-snapshot
X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus
inferredcites →https://doi.org/10.1038/ng0893-331openalex-snapshot
A missense mutation confirms the L1 defect in X–linked hydrocephalus (HSAS)
inferredcites →https://doi.org/10.1038/ng0893-421openalex-snapshot
A duplication in the L1CAM gene associated with X–linked hydrocephalus
inferredcites →https://doi.org/10.1038/ng1092-107openalex-snapshot
Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X–linked hydrocephalus
inferredcites →https://doi.org/10.1083/jcb.115.4.1113openalex-snapshot
Neurite outgrowth on immobilized axonin-1 is mediated by a heterophilic interaction with L1(G4).
inferredcites →https://doi.org/10.1083/jcb.119.4.883openalex-snapshot
Calcium influx into neurons can solely account for cell contact-dependent neurite outgrowth stimulated by transfected L1.
inferredcites →https://doi.org/10.1083/jcb.119.6.1387openalex-snapshot
Regulation of axonal growth in the vertebrate nervous system by interactions between glycoproteins belonging to two subgroups of the immunoglobulin superfamily.
inferredcites →https://doi.org/10.1093/brain/72.2.246openalex-snapshot
HEREDITARY STENOSIS OF THE AQUEDUCT OF SYLVIUS AS A CAUSE OF CONGENITAL HYDROCEPHALUS
inferredcites →https://doi.org/10.1093/hmg/1.6.391openalex-snapshot
Rapid and simultaneous detection of multiple mutations by pooled and multiplex single nucleotide primer extension: application to the study of insulin-responsive glucose transporter and insulin receptor mutations in non-insulindependent diabetes
inferredcites →https://doi.org/10.1093/hmg/1.7.497openalex-snapshot
Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome
inferredcites →https://doi.org/10.1097/00019605-199310000-00005openalex-snapshot
Agenesis of the corpus callosum associated with MASA syndrome
inferredcites →https://doi.org/10.1111/j.1399-0004.1974.tb01697.xopenalex-snapshot
The MASA syndrome: A new heritable mental retardation syndrome
inferredcites →https://doi.org/10.1111/j.1471-4159.1989.tb08540.xopenalex-snapshot
A Protein Kinase Activity Is Associated with and Specifically Phosphorylates the Neural Cell Adhesion Molecule LI
inferredcites →https://doi.org/10.1136/adc.36.189.481openalex-snapshot
Sex-linked Hydrocephalus: Report of a Family with 15 Affected Members
inferredcites →https://doi.org/10.1136/jmg.23.1.23openalex-snapshot
X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia.
inferredcites →https://doi.org/10.1136/jmg.27.11.688openalex-snapshot
MASA syndrome: new clinical features and linkage analysis using DNA probes.
inferredcites →https://doi.org/10.1136/jmg.28.6.429-aopenalex-snapshot
X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28.
inferredcites →https://doi.org/10.1136/jmg.30.3.214openalex-snapshot
Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
inferredcites →https://doi.org/10.1523/jneurosci.13-11-04764.1993openalex-snapshot
Several extracellular domains of the neural cell adhesion molecule L1 are involved in neurite outgrowth and cell body adhesion
inferredcites →https://doi.org/10.17615/64pe-ab26openalex-snapshot
Further localization of X-linked hydrocephalus in the chromosomal region Xq28
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.1001/archneur.56.8.943openalex-snapshot
Clinical Heterogeneity of Autosomal Recessive Spastic Paraplegias
inferred← citeshttps://doi.org/10.1001/archneur.59.2.281openalex-snapshot
Spectrum of SPG4 Mutations in a Large Collection of North American Families With Hereditary Spastic Paraplegia
inferred← citeshttps://doi.org/10.1001/archneur.61.1.49openalex-snapshot
Three Novel Mutations of the Spastin Gene in Chinese Patients With Hereditary Spastic Paraplegia
inferred← citeshttps://doi.org/10.1002/(sici)1096-8628(19960712)64:1<169::aid-ajmg29>3.0.co;2-kopenalex-snapshot
Study of X-linked mental retardation (XLMR): Summary of 61 families in the Miami Greenwood study
inferred← citeshttps://doi.org/10.1002/(sici)1096-8628(19960712)64:1<73::aid-ajmg11>3.0.co;2-popenalex-snapshot
The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule
inferred← citeshttps://doi.org/10.1002/(sici)1096-8628(19970221)74:1<26::aid-ajmg7>3.0.co;2-topenalex-snapshot
Familial spastic paraparesis: Evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2
inferred← citeshttps://doi.org/10.1002/(sici)1096-8628(19970516)70:2<114::aid-ajmg2>3.0.co;2-yopenalex-snapshot
Heterogeneity in adducted thumbs sequence
inferred← citeshttps://doi.org/10.1002/(sici)1096-8628(19970822)71:3<336::aid-ajmg15>3.0.co;2-lopenalex-snapshot
Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait
inferred← citeshttps://doi.org/10.1002/(sici)1096-8628(19980113)75:2<200::aid-ajmg16>3.0.co;2-topenalex-snapshot
Somatic and germ line mosaicism and mutation origin for a mutation in theL1 gene in a family with X-linked hydrocephalus
inferred← citeshttps://doi.org/10.1002/(sici)1096-8628(19980113)75:2<200::aid-ajmg16>3.3.co;2-hopenalex-snapshot
Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X‐linked hydrocephalus
inferred← citeshttps://doi.org/10.1002/(sici)1096-8628(19990312)83:2<132::aid-ajmg9>3.0.co;2-yopenalex-snapshot
Evidence for a new X-linked mental retardation gene in Xp21-Xp22: Clinical and molecular data in one family
inferred← citeshttps://doi.org/10.1002/(sici)1096-8628(19990423)83:5<392::aid-ajmg10>3.0.co;2-fopenalex-snapshot
Genetic anticipation in a large family with pure autosomal dominant hereditary spastic paraplegia
inferred← citeshttps://doi.org/10.1002/(sici)1096-8628(19990423)83:5<409::aid-ajmg13>3.0.co;2-sopenalex-snapshot
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II
inferred← citeshttps://doi.org/10.1002/(sici)1096-8628(19990423)83:5<411::aid-ajmg14>3.0.co;2-bopenalex-snapshot
X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: Linkage study and neuropsychological data in a large family
inferred← citeshttps://doi.org/10.1002/(sici)1096-8628(19990730)85:3<236::aid-ajmg10>3.0.co;2-9openalex-snapshot
X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28
inferred← citeshttps://doi.org/10.1002/(sici)1096-8628(19991222)87:5<440::aid-ajmg14>3.0.co;2-#openalex-snapshot
Familial lissencephaly with cleft palate and severe cerebellar hypoplasia
inferred← citeshttps://doi.org/10.1002/(sici)1096-8628(20000515)92:2<122::aid-ajmg8>3.0.co;2-bopenalex-snapshot
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin
inferred← citeshttps://doi.org/10.1002/(sici)1097-0215(19991029)83:3<401::aid-ijc17>3.0.co;2-aopenalex-snapshot
Anti-neuroblastoma antibody chCE7 binds to an isoform of L1-CAM present in renal carcinoma cells
inferred← citeshttps://doi.org/10.1002/(sici)1097-0223(199606)16:6<543::aid-pd878>3.0.co;2-iopenalex-snapshot
TRANSVAGINAL SONOGRAPHIC DETECTION OF ADDUCTED THUMBS, HYDROCEPHALUS, AND AGENESIS OF THE CORPUS CALLOSUM AT 22 POSTMENSTRUAL WEEKS: THE MASA SPECTRUM OR L1 SPECTRUM. A CASE REPORT AND REVIEW OF THE LITERATURE
inferred← citeshttps://doi.org/10.1002/(sici)1098-1004(1996)8:4<384::aid-humu17>3.0.co;2-zopenalex-snapshot
A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia
inferred← citeshttps://doi.org/10.1002/(sici)1098-1004(1997)9:6<512::aid-humu3>3.0.co;2-3openalex-snapshot
Nine novel L1 CAM mutations in families with X-linked hydrocephalus
inferred← citeshttps://doi.org/10.1002/(sici)1098-1004(1998)11:3<222::aid-humu7>3.0.co;2-jopenalex-snapshot
Multiple exon screening using restriction endonuclease fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene
inferred← citeshttps://doi.org/10.1002/(sici)1098-1004(1998)12:4<259::aid-humu7>3.0.co;2-aopenalex-snapshot
Identification of novelL1CAM mutations using fluorescence-assisted mismatch analysis
inferred← citeshttps://doi.org/10.1002/(sici)1098-2299(199707/08)41:3/4<129::aid-ddr4>3.0.co;2-nopenalex-snapshot
Positional cloning: A review and perspective
inferred← citeshttps://doi.org/10.1002/(sici)1098-2779(1998)4:3<171::aid-mrdd4>3.0.co;2-ropenalex-snapshot
Axon growth promoting and inhibitory molecules involved in regeneration in the adult mammalian central nervous system
inferred← citeshttps://doi.org/10.1002/(sici)1521-1878(199808)20:8<668::aid-bies10>3.0.co;2-xopenalex-snapshot
Neural cell adhesion molecule L1: relating disease to function
inferred← citeshttps://doi.org/10.1002/1096-8628(20000904)94:1<1::aid-ajmg1>3.0.co;2-vopenalex-snapshot
Novel syndromic form of X-linked complicated spastic paraplegia
inferred← citeshttps://doi.org/10.1002/1096-8628(200023)97:3<174::aid-ajmg1034>3.0.co;2-4openalex-snapshot
Splitting and lumping in the nosology of XLMR
inferred← citeshttps://doi.org/10.1002/1096-8628(20010722)102:1<68::aid-ajmg1411>3.0.co;2-ropenalex-snapshot
Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci
inferred← citeshttps://doi.org/10.1002/1097-0223(200012)20:12<1012::aid-pd963>3.0.co;2-xopenalex-snapshot
MASA syndrome: ultrasonographic evidence in a male fetus
inferred← citeshttps://doi.org/10.1002/1097-0223(200103)21:3<202::aid-pd4>3.0.co;2-uopenalex-snapshot
Prenatal diagnosis of hereditary spastic paraplegia
inferred← citeshttps://doi.org/10.1002/9780470015902.a0021451openalex-snapshot
Molecular Genetics of Hereditary Spastic Paraplegias
inferred← citeshttps://doi.org/10.1002/9781118661895.ch15openalex-snapshot
Hereditary Spastic Paraplegia
inferred← citeshttps://doi.org/10.1002/9781444314342.ch11openalex-snapshot
Molecular Genetics and Prenatal Diagnosis
inferred← citeshttps://doi.org/10.1002/ajmg.10185openalex-snapshot
Hydrocephalus and intestinal aganglionosis: Is L1CAM a modifier gene in Hirschsprung disease?
inferred← citeshttps://doi.org/10.1002/ajmg.10551openalex-snapshot
Further evidence for a fourth gene causing X‐linked pure spastic paraplegia
inferred← citeshttps://doi.org/10.1002/ajmg.1320590419openalex-snapshot
Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: A new syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.1425openalex-snapshot
Mitochondria and degenerative disorders
inferred← citeshttps://doi.org/10.1002/ajmg.a.30793openalex-snapshot
Congenital idiopathic intestinal pseudo‐obstruction and hydrocephalus with stenosis of the aqueduct of sylvius
inferred← citeshttps://doi.org/10.1002/ajmg.a.31536openalex-snapshot
Contiguous gene deletion involving L1CAM and AVPR2 causes X‐linked hydrocephalus with nephrogenic diabetes insipidus
inferred← citeshttps://doi.org/10.1002/ajmg.a.33688openalex-snapshot
Familial hydrocephalus with normal cognition and distinctive radiological features
inferred← citeshttps://doi.org/10.1002/ajmg.a.36934openalex-snapshot
Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification
inferred← citeshttps://doi.org/10.1002/ajmg.b.30683openalex-snapshot
Different‐sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections
inferred← citeshttps://doi.org/10.1002/ajmg.b.32984openalex-snapshot
KCNJ3 is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia identified using whole genome sequencing
inferred← citeshttps://doi.org/10.1002/ana.10757openalex-snapshot
Hereditary spastic paraparesis: Disrupted intracellular transport associated with spastin mutation
inferred← citeshttps://doi.org/10.1002/ar.20731openalex-snapshot
Why Decussate? Topological Constraints on 3D Wiring
inferred← citeshttps://doi.org/10.1002/bdr2.2287openalex-snapshot
Genetic etiologies and diagnostic methods for congenital ventriculomegaly and hydrocephalus: A scoping review
inferred← citeshttps://doi.org/10.1002/cbf.4034openalex-snapshot
Functional study of a rare L1CAM gene c.1759G>C variant prove its pathogenicity
inferred← citeshttps://doi.org/10.1002/dvdy.22269openalex-snapshot
“CRASH”ing with the worm: Insights into L1CAM functions and mechanisms
inferred← citeshttps://doi.org/10.1002/humu.10105openalex-snapshot
Mutation analysis of thespastingene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
inferred← citeshttps://doi.org/10.1002/humu.1144openalex-snapshot
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in theL1CAMgene
inferred← citeshttps://doi.org/10.1002/humu.1380110177openalex-snapshot
Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree
inferred← citeshttps://doi.org/10.1002/humu.1380110189openalex-snapshot
Evidence for somatic and germline mosaicism in CRASH syndrome
inferred← citeshttps://doi.org/10.1002/humu.21172openalex-snapshot
An updated and upgradedL1CAMmutation database
inferred← citeshttps://doi.org/10.1002/humu.22032openalex-snapshot
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia
inferred← citeshttps://doi.org/10.1002/humu.9242openalex-snapshot
Intronic mutations in theL1CAMgene may cause X-linked hydrocephalus by aberrant splicing
inferred← citeshttps://doi.org/10.1002/j.1460-2075.1996.tb00993.xopenalex-snapshot
Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.
inferred← citeshttps://doi.org/10.1002/jnr.1227openalex-snapshot
Disulfide‐mediated dimerization of L1 Ig domains
inferred← citeshttps://doi.org/10.1002/jnr.22695openalex-snapshot
Human L1CAM carrying the missense mutations of the fibronectin‐like type III domains is localized in the endoplasmic reticulum and degraded by polyubiquitylation
inferred← citeshttps://doi.org/10.1002/mds.26527openalex-snapshot
N omenclature of genetic movement disorders: R ecommendations of the international P arkinson and movement disorder society task force
inferred← citeshttps://doi.org/10.1002/pd.184openalex-snapshot
Prenatal diagnosis of hydrocephalus‐stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases
inferred← citeshttps://doi.org/10.1002/pd.865openalex-snapshot
Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum
inferred← citeshttps://doi.org/10.1002/pd.978openalex-snapshot
A novel L1CAM mutation with L1 spectrum disorders
inferred← citeshttps://doi.org/10.1002/wrna.1418openalex-snapshot
Microexons: discovery, regulation, and function
inferred← citeshttps://doi.org/10.1006/bbrc.2001.4420openalex-snapshot
DSCAM, a Highly Conserved Gene in Mammals, Expressed in Differentiating Mouse Brain
inferred← citeshttps://doi.org/10.1006/exnr.1997.6638openalex-snapshot
Hydrocephalus in the Otx2+/−Mutant Mouse
inferred← citeshttps://doi.org/10.1006/geno.1997.4688openalex-snapshot
Molecular Characterization of Human Neogenin, a DCC-Related Protein, and the Mapping of Its Gene (NEO1) to Chromosomal Position 15q22.3–q23
inferred← citeshttps://doi.org/10.1006/geno.1997.4782openalex-snapshot
Cloning of a Novel Human Neural Cell Adhesion Molecule Gene (NCAM2) That Maps to Chromosome Region 21q21 and Is Potentially Involved in Down Syndrome
inferred← citeshttps://doi.org/10.1006/geno.1999.5818openalex-snapshot
Identification and Characterization of AFG3L2, a Novel Paraplegin-Related Gene
inferred← citeshttps://doi.org/10.1006/geno.2000.6136openalex-snapshot
Identification and Characterization of YME1L1, a Novel Paraplegin-Related Gene
inferred← citeshttps://doi.org/10.1006/mcne.1998.0702openalex-snapshot
Role of L1 in Neural Development: What the Knockouts Tell Us
inferred← citeshttps://doi.org/10.1007/978-0-387-30379-6_8openalex-snapshot
Protein Alterations in Mental Retardation
inferred← citeshttps://doi.org/10.1007/978-1-4614-1037-9_53openalex-snapshot
Congenital Hydrocephalus
inferred← citeshttps://doi.org/10.1007/978-1-4614-6430-3_53-2openalex-snapshot
Congenital Hydrocephalus
inferred← citeshttps://doi.org/10.1007/978-1-4614-8090-7_9openalex-snapshot
The L1 Family of Cell Adhesion Molecules: A Sickening Number of Mutations and Protein Functions
inferred← citeshttps://doi.org/10.1007/978-1-4939-2401-1_53openalex-snapshot
Congenital Hydrocephalus
inferred← citeshttps://doi.org/10.1007/978-1-59259-200-5_6openalex-snapshot
Transduction of Inhibitory Signals by the Axonal Growth Cone
inferred← citeshttps://doi.org/10.1007/978-1-59259-353-8_4openalex-snapshot
What Can the Study of Behavioral Phenotypes Teach Us About the Pathway from Genes to Behavior?
inferred← citeshttps://doi.org/10.1007/978-1-59259-726-0_99openalex-snapshot
Amyotrophic Lateral Sclerosis and Related Motor Neuron Diseases
inferred← citeshttps://doi.org/10.1007/978-1-59259-963-9_115openalex-snapshot
Amyotrophic Lateral Sclerosis and Related Motor Neuron Disorders
inferred← citeshttps://doi.org/10.1007/978-1-59745-285-4_12openalex-snapshot
Caenorhabditis elegans Models of Human Neurodegenerative Diseases
inferred← citeshttps://doi.org/10.1007/978-1-60327-161-5_41openalex-snapshot
Congenital Hydrocephalus
inferred← citeshttps://doi.org/10.1007/978-3-031-26098-8_6openalex-snapshot
Development and Developmental Disorders of the Spinal Cord
inferred← citeshttps://doi.org/10.1007/978-3-319-31512-6_21-1openalex-snapshot
X-Linked Hydrocephalus
inferred← citeshttps://doi.org/10.1007/978-3-319-61304-8_4openalex-snapshot
Understanding Hydrocephalus: Genetic View
inferred← citeshttps://doi.org/10.1007/978-3-319-66816-1_1689-1openalex-snapshot
Adducted Thumb Syndrome
inferred← citeshttps://doi.org/10.1007/978-3-642-54687-7_6openalex-snapshot
Development and Developmental Disorders of the Spinal Cord
inferred← citeshttps://doi.org/10.1007/978-3-642-60905-3_7openalex-snapshot
The Eph family: a multitude of receptors that mediate cell recognition signals
inferred← citeshttps://doi.org/10.1007/978-3-642-72074-1_15openalex-snapshot
Malformationen des Gehirns
inferred← citeshttps://doi.org/10.1007/978-3-642-72074-1_21openalex-snapshot
Spastische Spinalparalyse
inferred← citeshttps://doi.org/10.1007/978-3-662-07096-3_10openalex-snapshot
Genetik neurologischer Erbkrankheiten — eine Übersicht
inferred← citeshttps://doi.org/10.1007/978-94-011-9635-2_3openalex-snapshot
DNA diagnosis of X-linked adrenoleukodystrophy
inferred← citeshttps://doi.org/10.1007/978-981-13-2218-1_14openalex-snapshot
Modeling Hereditary Spastic Paraplegias in Fruit Flies: Potential of Its Genetic Paraphernalia
inferred← citeshttps://doi.org/10.1007/978-981-15-8171-7_7openalex-snapshot
Neuroimaging and Genetics in Brain Maldevelopment
inferred← citeshttps://doi.org/10.1007/b95865openalex-snapshot
Protein quality control in mitochondria and neurodegeneration in hereditary spastic paraplegia
inferred← citeshttps://doi.org/10.1007/bf00261591openalex-snapshot
A new mutation of the L1CAM gene in an X-linked hydrocephalus family
inferred← citeshttps://doi.org/10.1007/bf00711427openalex-snapshot
DNA diagnosis of X‐linked adrenoleukodystrophy
inferred← citeshttps://doi.org/10.1007/bf01876336openalex-snapshot
A novel mutation in LICAM gene in a Japanese patient with x-linked hydrocephalus
inferred← citeshttps://doi.org/10.1007/bf02185770openalex-snapshot
A deletion of five nucleotides in the LICAM gene in a Japanese family with X-linked hydrocephalus
inferred← citeshttps://doi.org/10.1007/bf02740643openalex-snapshot
The role of glycoproteins in neural development, function, and disease
inferred← citeshttps://doi.org/10.1007/s00109-024-02454-4openalex-snapshot
Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder
inferred← citeshttps://doi.org/10.1007/s00381-021-05230-8openalex-snapshot
Genomics of human congenital hydrocephalus
inferred← citeshttps://doi.org/10.1007/s00401-013-1115-8openalex-snapshot
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms
inferred← citeshttps://doi.org/10.1007/s004150050503openalex-snapshot
The hereditary spastic paraplegias
inferred← citeshttps://doi.org/10.1007/s00439-003-1021-6openalex-snapshot
Refinement of the "Silver syndrome locus" on chromosome 11q12-q14 in four families and exclusion of eight candidate genes
inferred← citeshttps://doi.org/10.1007/s00439-015-1536-7openalex-snapshot
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology
inferred← citeshttps://doi.org/10.1007/s004390050223openalex-snapshot
Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family
inferred← citeshttps://doi.org/10.1007/s004390050507openalex-snapshot
Evidence of a third locus in X-linked recessive spastic paraplegia
inferred← citeshttps://doi.org/10.1007/s004390051076openalex-snapshot
Genomic structure and expression analysis of the spastic paraplegia gene, SPG7
inferred← citeshttps://doi.org/10.1007/s00441-012-1345-4openalex-snapshot
Role of L1CAM for axon sprouting and branching
inferred← citeshttps://doi.org/10.1007/s004410050926openalex-snapshot
The Eph family: a multitude of receptors that mediate cell recognition signals
inferred← citeshttps://doi.org/10.1007/s10038-004-0153-4openalex-snapshot
Hydrocephalus and Hirschsprung’s disease with a mutation of L1CAM
inferred← citeshttps://doi.org/10.1007/s100380050063openalex-snapshot
Expression and chromosomal localization of KIAA0369, a putative kinase structurally related to Doublecortin
inferred← citeshttps://doi.org/10.1007/s10048-010-0243-8openalex-snapshot
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish
inferred← citeshttps://doi.org/10.1007/s10048-011-0307-4openalex-snapshot
Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus
inferred← citeshttps://doi.org/10.1007/s10048-023-00717-9openalex-snapshot
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice
inferred← citeshttps://doi.org/10.1007/s10072-020-04981-7openalex-snapshot
Hereditary spastic paraplegia
inferred← citeshttps://doi.org/10.1007/s10354-008-0584-1openalex-snapshot
Akute Verhaltensstörung bei einem Patienten mit Verdacht auf X-chromosomal hereditären Normaldruckhydrozephalus
inferred← citeshttps://doi.org/10.1007/s11910-996-0011-1openalex-snapshot
Hereditary spastic paraplegia
inferred← citeshttps://doi.org/10.1007/s12311-016-0803-zopenalex-snapshot
Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks
inferred← citeshttps://doi.org/10.1007/s15016-024-3829-3openalex-snapshot
Hereditäre spastische Spinalparalysen erkennen und behandeln
inferred← citeshttps://doi.org/10.1016/0022-510x(95)00349-7openalex-snapshot
Molecular genetics of familial spastic paraplegia: a multitude of responsible genes
inferred← citeshttps://doi.org/10.1016/0166-2236(95)93896-6openalex-snapshot
Mutations in the cell adhesion molecule LI cause mental retardation
inferred← citeshttps://doi.org/10.1016/0169-328x(95)00027-popenalex-snapshot
Exon 2 of the gene for neural cell adhesion molecule Ll is alternatively spliced in B cells
inferred← citeshttps://doi.org/10.1016/0306-4522(96)00276-xopenalex-snapshot
Expression of the neural adhesion molecule L1 in the deafferented dentate gyrus
inferred← citeshttps://doi.org/10.1016/0955-0674(95)80103-0openalex-snapshot
Cell adhesion molecules as morphoregulators
inferred← citeshttps://doi.org/10.1016/0959-437x(95)80051-4openalex-snapshot
Finding genes involved in human developmental disorders
inferred← citeshttps://doi.org/10.1016/0959-4388(94)90016-7openalex-snapshot
Neural recognition molecules in disease and regeneration
inferred← citeshttps://doi.org/10.1016/b0-12-226870-9/00796-6openalex-snapshot
Hereditary Spastic Paraplegia
inferred← citeshttps://doi.org/10.1016/b978-0-12-383834-6.00126-9openalex-snapshot
Hereditary Spastic Paraplegia
inferred← citeshttps://doi.org/10.1016/b978-0-12-383834-6.00168-3openalex-snapshot
Arthrogryposes (Multiple Congenital Contractures)
inferred← citeshttps://doi.org/10.1016/b978-0-12-385157-4.01150-7openalex-snapshot
Hereditary Spastic Paraplegia
inferred← citeshttps://doi.org/10.1016/b978-0-12-405195-9.00073-1openalex-snapshot
Drosophila Models of Hereditary Spastic Paraplegia
inferred← citeshttps://doi.org/10.1016/b978-0-12-410529-4.00077-2openalex-snapshot
Hereditary Spastic Paraplegia
inferred← citeshttps://doi.org/10.1016/b978-0-12-411573-6.00016-4openalex-snapshot
Hereditary Spastic Paraplegia
inferred← citeshttps://doi.org/10.1016/b978-0-12-801238-3.05632-4openalex-snapshot
Arthrogryposes (Multiple Congenital Contractures)
inferred← citeshttps://doi.org/10.1016/b978-0-12-813866-3.00010-2openalex-snapshot
The hereditary spastic paraplegias
inferred← citeshttps://doi.org/10.1016/b978-0-12-820552-5.00021-8openalex-snapshot
Hereditary Spastic Paraplegia
inferred← citeshttps://doi.org/10.1016/b978-0-323-03354-1.50073-0openalex-snapshot
HEREDITARY SPASTIC PARAPLEGIAS
inferred← citeshttps://doi.org/10.1016/b978-0-323-98817-9.00022-3openalex-snapshot
The hereditary spastic paraplegias
inferred← citeshttps://doi.org/10.1016/b978-0-323-99417-0.00008-2openalex-snapshot
Ataxia and spasticity
inferred← citeshttps://doi.org/10.1016/b978-0-443-19176-3.00037-6openalex-snapshot
The hereditary spastic paraplegias
inferred← citeshttps://doi.org/10.1016/b978-0-444-64076-5.00041-7openalex-snapshot
Hereditary spastic paraplegia
inferred← citeshttps://doi.org/10.1016/b978-1-56053-433-4.50024-9openalex-snapshot
Disorders Affecting Motor Neurons
inferred← citeshttps://doi.org/10.1016/b978-141603618-0.10028-1openalex-snapshot
Developmental Structural Disorders
inferred← citeshttps://doi.org/10.1016/b978-141603618-0.10036-0openalex-snapshot
Degenerative Motor, Sensory, and Autonomic Disorders
inferred← citeshttps://doi.org/10.1016/j.ajhg.2026.01.014openalex-snapshot
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome
inferred← citeshttps://doi.org/10.1016/j.bbadis.2017.04.007openalex-snapshot
Spastin regulates VAMP7-containing vesicles trafficking in cortical neurons
inferred← citeshttps://doi.org/10.1016/j.braindev.2008.12.014openalex-snapshot
Is oxidative damage in operation in patients with hereditary spastic paraparesis?
inferred← citeshttps://doi.org/10.1016/j.cca.2020.08.018openalex-snapshot
Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing
inferred← citeshttps://doi.org/10.1016/j.celrep.2018.07.081openalex-snapshot
Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation
inferred← citeshttps://doi.org/10.1016/j.celrep.2024.113818openalex-snapshot
ESCRT-I protein UBAP1 controls ventricular expansion and cortical neurogenesis via modulating adherens junctions of radial glial cells
inferred← citeshttps://doi.org/10.1016/j.cub.2004.06.058openalex-snapshot
The Hereditary Spastic Paraplegia Gene, spastin, Regulates Microtubule Stability to Modulate Synaptic Structure and Function
inferred← citeshttps://doi.org/10.1016/j.emcn.2003.12.002openalex-snapshot
Ataxies et paraplégies spastiques héréditaires
inferred← citeshttps://doi.org/10.1016/j.expneurol.2014.06.011openalex-snapshot
Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
inferred← citeshttps://doi.org/10.1016/j.expneurol.2022.114203openalex-snapshot
Hereditary spastic paraplegia: Genetic heterogeneity and common pathways
inferred← citeshttps://doi.org/10.1016/j.expneurol.2023.114433openalex-snapshot
X-linked hydrocephalus genes: Their proximity to telomeres and high A + T content compared to Parkinson's disease
inferred← citeshttps://doi.org/10.1016/j.jgg.2019.04.002openalex-snapshot
Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development
inferred← citeshttps://doi.org/10.1016/j.jns.2008.07.038openalex-snapshot
Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum
inferred← citeshttps://doi.org/10.1016/j.jns.2012.03.025openalex-snapshot
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
inferred← citeshttps://doi.org/10.1016/j.mcn.2004.01.008openalex-snapshot
Reduced GABAergic transmission and number of hippocampal perisomatic inhibitory synapses in juvenile mice deficient in the neural cell adhesion molecule L1
inferred← citeshttps://doi.org/10.1016/j.mcn.2016.08.005openalex-snapshot
The role of cell adhesion molecules in brain wiring and neuropsychiatric disorders
inferred← citeshttps://doi.org/10.1016/j.molmed.2006.04.002openalex-snapshot
Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia
inferred← citeshttps://doi.org/10.1016/j.nbd.2010.05.029openalex-snapshot
L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms
inferred← citeshttps://doi.org/10.1016/j.neuro.2006.11.008openalex-snapshot
L1 cell adhesion molecule is neuroprotective of alcohol induced cell death
inferred← citeshttps://doi.org/10.1016/j.neurobiolaging.2004.11.013openalex-snapshot
Elevated levels of neural recognition molecule L1 in the cerebrospinal fluid of patients with Alzheimer disease and other dementia syndromes
inferred← citeshttps://doi.org/10.1016/j.neurobiolaging.2006.09.004openalex-snapshot
Loss of spastic paraplegia gene atlastin induces age-dependent death of dopaminergic neurons in Drosophila
inferred← citeshttps://doi.org/10.1016/j.neurol.2015.02.017openalex-snapshot
Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting
inferred← citeshttps://doi.org/10.1016/j.neurol.2017.03.034openalex-snapshot
Hereditary spastic paraplegia: More than an upper motor neuron disease
inferred← citeshttps://doi.org/10.1016/j.neuron.2019.02.009openalex-snapshot
Axo-axonic Innervation of Neocortical Pyramidal Neurons by GABAergic Chandelier Cells Requires AnkyrinG-Associated L1CAM
inferred← citeshttps://doi.org/10.1016/j.neuroscience.2011.02.018openalex-snapshot
L1 cell adhesion molecule promotes resistance to alcohol-induced silencing of growth cone responses to guidance cues
inferred← citeshttps://doi.org/10.1016/j.pharmthera.2005.06.001openalex-snapshot
Traffic accidents: Molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias
inferred← citeshttps://doi.org/10.1016/j.semcdb.2020.11.004openalex-snapshot
Importance of lipids for upper motor neuron health and disease
inferred← citeshttps://doi.org/10.1016/j.stemcr.2021.04.006openalex-snapshot
Neuroglian regulates Drosophila intestinal stem cell proliferation through enhanced signaling via the epidermal growth factor receptor
inferred← citeshttps://doi.org/10.1016/j.tjog.2020.03.022openalex-snapshot
L1CAM mutations in three fetuses diagnosed by medical exome sequencing
inferred← citeshttps://doi.org/10.1016/j.ygeno.2006.07.012openalex-snapshot
A 360-kb interchromosomal duplication of the human HYDIN locus
inferred← citeshttps://doi.org/10.1016/s0005-2728(98)00164-9openalex-snapshot
Mitochondrial involvement in Parkinson’s disease, Huntington’s disease, hereditary spastic paraplegia and Friedreich’s ataxia
inferred← citeshttps://doi.org/10.1016/s0021-9258(20)30074-0openalex-snapshot
Expression of the neural axon adhesion molecule L1 in the developing and adult rat brain
inferred← citeshttps://doi.org/10.1016/s0022-510x(03)00011-xopenalex-snapshot
A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family
inferred← citeshttps://doi.org/10.1016/s0022-510x(98)00097-5openalex-snapshot
Familial congenital hydrocephalus and aqueduct stenosis with probably autosomal dominant inheritance and variable expression
inferred← citeshttps://doi.org/10.1016/s0031-3955(05)70369-2openalex-snapshot
DEVELOPMENTAL NEUROTOXICITY
inferred← citeshttps://doi.org/10.1016/s0072-9752(07)80008-xopenalex-snapshot
Chapter 5 Cytopathology of the motor neuron
inferred← citeshttps://doi.org/10.1016/s0072-9752(07)80020-0openalex-snapshot
Chapter 17 Hereditary spastic paraparesis
inferred← citeshttps://doi.org/10.1016/s0074-7742(02)53008-7openalex-snapshot
Hereditary spastic paraplegia
inferred← citeshttps://doi.org/10.1016/s0092-8674(00)81203-9openalex-snapshot
Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease
inferred← citeshttps://doi.org/10.1016/s0140-6736(95)90170-1openalex-snapshot
Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus
inferred← citeshttps://doi.org/10.1016/s0140-6736(99)05226-5openalex-snapshot
Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects
inferred← citeshttps://doi.org/10.1016/s0161-813x(01)00034-1openalex-snapshot
L1 Cell Adhesion Molecule Signal Cascades: Targets for Ethanol Developmental Neurotoxicity
inferred← citeshttps://doi.org/10.1016/s0165-0173(97)00034-9openalex-snapshot
Gene regulation of cell adhesion: a key step in neural morphogenesis1Published on the World Wide Web on 4 November 1997.1
inferred← citeshttps://doi.org/10.1016/s0246-0378(19)30218-0openalex-snapshot
10.1016/s0246-0378(19)30218-0
inferred← citeshttps://doi.org/10.1016/s0306-9877(96)90069-9openalex-snapshot
Genes for Prader Willi syndrome/angelman syndrome and fragile X syndrome are homologous, with genetic imprinting and unstable trinucleotide repeats causing mental retardation, autism and aggression
inferred← citeshttps://doi.org/10.1016/s0378-1119(97)00614-8openalex-snapshot
The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu
inferred← citeshttps://doi.org/10.1016/s0387-7604(97)00079-xopenalex-snapshot
L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling
inferred← citeshttps://doi.org/10.1016/s0733-8619(02)00007-5openalex-snapshot
Hereditary spastic paraplegia
inferred← citeshttps://doi.org/10.1016/s0896-6273(00)80025-2openalex-snapshot
Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development
inferred← citeshttps://doi.org/10.1016/s0959-437x(00)00199-4openalex-snapshot
Molecular basis of inherited spastic paraplegias
inferred← citeshttps://doi.org/10.1016/s0960-9822(98)70017-xopenalex-snapshot
Errors in corticospinal axon guidance in mice lacking the neural cell adhesion molecule L1
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