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LUPSKI, JAMES
One or more keywords matched the following items that are connected to LUPSKI, JAMES
Item TypeName
Academic Article Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
Academic Article Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.
Academic Article Settling the myelin protein zero question in CMT1B.
Academic Article Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.
Academic Article Molecular genetics of Charcot-Marie-Tooth neuropathy.
Academic Article A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.
Academic Article Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.
Academic Article Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1.
Academic Article Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP.
Academic Article Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1.
Academic Article Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17.
Academic Article Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.
Academic Article A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
Academic Article Charcot-Marie-Tooth disease and related inherited neuropathies.
Academic Article Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
Academic Article Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies.
Academic Article Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
Academic Article Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.
Academic Article Molecular mechanisms for Charcot-Marie-Tooth disease and related demyelinating peripheral neuropathies.
Academic Article Detection of tandem duplications and implications for linkage analysis.
Academic Article Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
Academic Article Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.
Academic Article Recessive Charcot-Marie-tooth disease.
Academic Article Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease.
Academic Article Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy.
Academic Article A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.
Academic Article Visualization of the CMT1A duplication and HNPP deletion by FISH on stretched chromosome fibers.
Academic Article An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.
Academic Article Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.
Academic Article Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
Academic Article Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A.
Academic Article Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.
Academic Article Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A.
Academic Article Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.
Academic Article Molecular-evolutionary mechanisms for genomic disorders.
Academic Article The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
Academic Article Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.
Academic Article The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.
Academic Article Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
Academic Article DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
Academic Article Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome.
Academic Article Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms.
Academic Article Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.
Academic Article Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
Academic Article Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.
Academic Article SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.
Academic Article Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L)
Academic Article New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis.
Academic Article The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP.
Academic Article Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Academic Article The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.
Academic Article Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy.
Academic Article T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
Academic Article Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.
Academic Article Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies.
Academic Article A girl with duplication 17p10-p12 associated with a dicentric chromosome.
Academic Article SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
Academic Article Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.
Academic Article Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management.
Academic Article Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Academic Article Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.
Academic Article Charcot-Marie-Tooth disease.
Academic Article Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
Academic Article Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
Academic Article Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
Academic Article Detection of =1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.
Academic Article Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT.
Academic Article A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
Academic Article Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication.
Academic Article Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders.
Academic Article Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition.
Academic Article Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.
Academic Article Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
Academic Article Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
Academic Article DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies.
Academic Article Charcot-Marie-Tooth disease: a gene-dosage effect.
Academic Article Charcot-Marie-Tooth disease: lessons in genetic mechanisms.
Academic Article Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.
Academic Article Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization.
Academic Article Molecular mechanisms for CMT1A duplication and HNPP deletion.
Academic Article Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.
Academic Article Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Academic Article CMT4A: identification of a Hispanic GDAP1 founder mutation.
Academic Article Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
Academic Article MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Academic Article Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.
Academic Article A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination.
Academic Article Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
Academic Article Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
Academic Article GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.
Academic Article Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.
Concept Charcot-Marie-Tooth Disease
Academic Article Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.
Academic Article Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
Academic Article Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
Academic Article Charcot-Marie-Tooth disease and pathways to molecular based therapies.
Academic Article The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
Academic Article Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
Academic Article Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Academic Article Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Academic Article The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Academic Article Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.
Academic Article Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.
Academic Article A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Academic Article Prenatal Diagnosis of Charcot-Marie-Tooth Disease Type 1A.
Academic Article Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Academic Article Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.
Grant CMT Peripheral Neuropathy: IV. Genes and Pathogenesis
Grant STRUCTURAL VARIATION IN NEUROLOGICAL DISEASE
Grant COMPLEX GENOMIC REARRANGEMENTS IN NEUROLOGICAL DISEASE
Academic Article Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.
Academic Article Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
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