Disease: Spastic paraplegia type 1- X-linked
- A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22
- Adducted thumb as an isolated morphologic finding: an early sonographic sign of impaired neurodevelopment: A STROBE compliant study
- Amelioration of the abnormal phenotype of a new L1 syndrome mouse mutation with L1 mimetics
- Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports
- Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations
- Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease
- CRASH syndrome: does it teach us about neurotrophic functions of cell adhesion molecules?
- Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression
- Effects of Intron 1 Sequences on Human PLP1 Expression: Implications for PLP1-Related Disorders
- Effects of L1 adhesion molecule agonistic mimetics on signal transduction in neuronal functions
- First report of Ageratum yellow vein virus infecting papaya in Lampung, Indonesia
- Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene
- Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15
- Genetic mimics of cerebral palsy
- Genetics of hereditary spastic paraplegias
- Genotype-phenotype correlation in L1 associated diseases
- Grip and slip of L1-CAM on adhesive substrates direct growth cone haptotaxis
- Hereditary spastic paraplegia: report of two siblings
- Human ankyrins and their contribution to disease biology: An update
- Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome
- In Silico Structural Analysis Predicting the Pathogenicity of PLP1 Mutations in Multiple Sclerosis
- Induced knockouts provide insights into human L1 syndrome
- L1 Syndrome
- L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains
- L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant
- L1-associated diseases: clinical geneticists divide, molecular geneticists unite
- L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling
- L1CAM mutations in three fetuses diagnosed by medical exome sequencing
- L1CAM whole gene deletion in a child with L1 syndrome
- Locus and allelic heterogeneity in five families with hereditary spastic paraplegia
- Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype
- Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder
- Neural cell adhesion proteins and neurological diseases
- NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges
- Novel <em>PLP1</em> Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes
- Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2
- Pelizaeus-Merzbacher Disease
- Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis
- PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1
- PLP1 gene mutations cause spastic paraplegia type 2 in three families
- Prenatal diagnosis of X-linked hydrocephalus in a family with a novel mutation in L1CAM gene
- Processing of PLP in a model of Pelizaeus-Merzbacher disease/SPG2 due to the rumpshaker mutation
- Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease
- Role of the cytoplasmic domain of the L1 cell adhesion molecule in brain development
- Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury
- Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy
- Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome
- The molecular and cellular defects underlying Pelizaeus-Merzbacher disease
- The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu
- The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease
- Three cases with L1 syndrome and two novel mutations in the L1CAM gene
- Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia
- X-linked hereditary spastic paraplegia due to mutation in the L1CAM gene: three cases reports of CRASH syndrome
- X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant
- Xq22.1 contiguous gene deletion syndrome of X-linked agammaglobulinemia and Mohr-Tranebjærg syndrome