JAMES LUPSKI to Charcot-Marie-Tooth Disease
This is a "connection" page, showing publications JAMES LUPSKI has written about Charcot-Marie-Tooth Disease.
Connection Strength
11.192
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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 08 03; 110(8):1394-1413.
Score: 0.693
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Charcot-Marie-Tooth disease and pathways to molecular based therapies. Clin Genet. 2014 Nov; 86(5):422-31.
Score: 0.367
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Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. Am J Hum Genet. 2014 Mar 06; 94(3):462-9.
Score: 0.361
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Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 May; 16(5):386-394.
Score: 0.353
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GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease. Neurogenetics. 2010 Oct; 11(4):465-70.
Score: 0.279
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Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet. 2010 Jun 11; 86(6):892-903.
Score: 0.278
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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 Apr 01; 362(13):1181-91.
Score: 0.275
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Charcot-Marie-Tooth disease. Eur J Hum Genet. 2009 Jun; 17(6):703-10.
Score: 0.256
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Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene. Acta Myol. 2007 Oct; 26(2):108-11.
Score: 0.232
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T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurol. 2006 Feb; 59(2):358-64.
Score: 0.207
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Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genet Med. 2006 Feb; 8(2):86-92.
Score: 0.207
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Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies. Neuromolecular Med. 2006; 8(1-2):243-54.
Score: 0.206
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SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat. 2005 Apr; 25(4):372-83.
Score: 0.195
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A girl with duplication 17p10-p12 associated with a dicentric chromosome. Am J Med Genet A. 2004 Jan 15; 124A(2):173-8.
Score: 0.179
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Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies. J Investig Med. 2003 Sep; 51(5):261-83.
Score: 0.175
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CMT4A: identification of a Hispanic GDAP1 founder mutation. Ann Neurol. 2003 Mar; 53(3):400-5.
Score: 0.169
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Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol. 2002 Feb; 51(2):190-201.
Score: 0.157
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The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy. Curr Neurol Neurosci Rep. 2002 Jan; 2(1):70-7.
Score: 0.156
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Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy. Genet Med. 2001 Sep-Oct; 3(5):335-42.
Score: 0.152
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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. Genome Res. 2001 Jul; 11(7):1205-10.
Score: 0.150
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New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis. Clin Chem. 2001 May; 47(5):838-43.
Score: 0.149
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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. Neurogenetics. 2001 Mar; 3(2):107-9.
Score: 0.147
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Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L) Am J Hum Genet. 2000 Jul; 67(1):8-10.
Score: 0.140
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Recessive Charcot-Marie-tooth disease. Ann Neurol. 2000 Jan; 47(1):6-8.
Score: 0.136
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Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest. 2019 12 02; 129(12):5568-5583.
Score: 0.135
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Molecular mechanisms for CMT1A duplication and HNPP deletion. Ann N Y Acad Sci. 1999 Sep 14; 883:22-35.
Score: 0.133
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Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity. Pediatr Res. 1999 Feb; 45(2):159-65.
Score: 0.127
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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. Mol Genet Metab. 2018 11; 125(3):302-304.
Score: 0.123
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Charcot-Marie-Tooth disease: lessons in genetic mechanisms. Mol Med. 1998 Jan; 4(1):3-11.
Score: 0.118
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Charcot-Marie-Tooth disease: a gene-dosage effect. Hosp Pract (1995). 1997 May 15; 32(5):83-4, 89-91, 94-5 passim.
Score: 0.113
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Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet. 1997 Mar 31; 69(3):325-31.
Score: 0.112
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Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. Genomics. 1997 Jan 01; 39(1):99-103.
Score: 0.110
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Visualization of the CMT1A duplication and HNPP deletion by FISH on stretched chromosome fibers. J Peripher Nerv Syst. 1997; 2(4):319-22.
Score: 0.110
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Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron. 1996 Sep; 17(3):451-60.
Score: 0.108
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Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine (Baltimore). 1996 Sep; 75(5):233-50.
Score: 0.108
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DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies. Clin Chem. 1996 Jul; 42(7):995-8.
Score: 0.106
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A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. Genomics. 1996 May 15; 34(1):128-33.
Score: 0.105
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Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy. Hum Genet. 1996 May; 97(5):642-9.
Score: 0.105
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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet. 1996 Mar; 12(3):288-97.
Score: 0.104
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Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy. Muscle Nerve. 1996 Jan; 19(1):74-8.
Score: 0.103
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Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Hum Mutat. 1996; 7(1):36-45.
Score: 0.103
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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. Hum Mutat. 1996; 8(4):362-5.
Score: 0.103
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Molecular mechanisms for Charcot-Marie-Tooth disease and related demyelinating peripheral neuropathies. Cold Spring Harb Symp Quant Biol. 1996; 61:659-71.
Score: 0.103
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Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 Nov 05; 97(5):691-707.
Score: 0.102
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Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication. Neurology. 1995 Nov; 45(11):2090-3.
Score: 0.102
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Settling the myelin protein zero question in CMT1B. Nat Genet. 1995 Oct; 11(2):119-20.
Score: 0.101
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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016 05; 18(5):443-51.
Score: 0.101
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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep. 2015 Aug 18; 12(7):1169-83.
Score: 0.100
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Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet. 2015 Jun; 134(6):671-3.
Score: 0.098
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Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders. Baillieres Clin Neurol. 1994 Aug; 3(2):373-85.
Score: 0.093
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Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet. 1994 Apr; 10(4):128-33.
Score: 0.091
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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet. 1994 Feb; 3(2):223-8.
Score: 0.090
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Molecular genetics of Charcot-Marie-Tooth neuropathy. Adv Hum Genet. 1994; 22:117-52.
Score: 0.089
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Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP. JAMA. 1993 Nov 17; 270(19):2326-30.
Score: 0.089
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Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet. 1993 Oct; 53(4):853-63.
Score: 0.088
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Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nat Genet. 1993 Oct; 5(2):189-94.
Score: 0.088
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Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition. Am J Med Sci. 1993 Sep; 306(3):177-84.
Score: 0.087
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Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med. 1993 Jul 08; 329(2):96-101.
Score: 0.087
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Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A. Prog Clin Biol Res. 1993; 384:187-205.
Score: 0.083
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Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1. Am J Med Genet. 1993 Jan 01; 45(1):92-6.
Score: 0.083
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Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet. 1992 Dec; 2(4):292-300.
Score: 0.083
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An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A. Clin Res. 1992 Dec; 40(4):645-52.
Score: 0.083
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Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A. Brain Pathol. 1992 Oct; 2(4):337-49.
Score: 0.082
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Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Apr; 1(1):29-33.
Score: 0.079
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A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Hum Mutat. 2012 Jan; 33(1):244-53.
Score: 0.077
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DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991 Jul 26; 66(2):219-32.
Score: 0.076
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Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT. Amino Acids. 2012 May; 42(5):1661-8.
Score: 0.074
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Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy. Int J Neurol. 1991-1992; 25-26:97-107.
Score: 0.073
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Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids. Am J Hum Genet. 1990 Dec; 47(6):926-34.
Score: 0.072
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Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet. 2010 Oct 08; 87(4):560-6.
Score: 0.071
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Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet. 1990 Apr; 46(4):801-9.
Score: 0.069
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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. Neurogenetics. 2009 10; 10(4):275-87.
Score: 0.064
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Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics. 2007 Nov; 8(4):257-62.
Score: 0.058
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Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 2007 Jul 05; 448(7149):68-72.
Score: 0.057
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Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Hum Genet. 2006 Sep; 120(2):227-37.
Score: 0.053
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MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain. 2006 Aug; 129(Pt 8):2093-102.
Score: 0.053
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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet. 2005 Apr; 42(4):358-65.
Score: 0.049
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SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. Neurology. 2004 Aug 10; 63(3):577-80.
Score: 0.047
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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain. 2003 Mar; 126(Pt 3):590-7.
Score: 0.042
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Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev. 2002 Jun; 12(3):312-9.
Score: 0.040
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Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype. Clin Genet. 2001 Nov; 60(5):336-44.
Score: 0.038
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The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res. 2001 Jun; 11(6):1018-33.
Score: 0.037
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Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease. Muscle Nerve. 2000 Feb; 23(2):182-8.
Score: 0.034
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Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A. Ann N Y Acad Sci. 1999 Sep 14; 883:457-9.
Score: 0.033
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Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Mol Genet. 1999 Jul; 8(7):1245-51.
Score: 0.033
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Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization. Prenat Diagn. 1999 May; 19(5):446-9.
Score: 0.032
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Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms. Annu Rev Med. 1999; 50:263-75.
Score: 0.032
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Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome. Clin Genet. 1998 Nov; 54(5):413-6.
Score: 0.031
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Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet. 1998 May; 62(5):1023-33.
Score: 0.030
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Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 1998 Apr; 18(4):382-4.
Score: 0.030
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The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet. 1997 Sep; 6(9):1595-603.
Score: 0.029
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Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. Genomics. 1997 May 15; 42(1):161-4.
Score: 0.028
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Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent. J Med Genet. 1997 Jan; 34(1):43-9.
Score: 0.028
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Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies. Eur J Hum Genet. 1996; 4(6):329-33.
Score: 0.026
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A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Am J Hum Genet. 1995 Jan; 56(1):91-8.
Score: 0.024
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Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1. Neurology. 1993 Dec; 43(12):2664-7.
Score: 0.022
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Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology. 1993 Sep; 43(9):1806-8.
Score: 0.022
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The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Jun; 1(3):159-65.
Score: 0.020
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Detection of =1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn. 2012 Jan; 32(1):10-20.
Score: 0.019
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A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. Am J Hum Genet. 2006 Nov; 79(5):890-902.
Score: 0.014
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Detection of tandem duplications and implications for linkage analysis. Am J Hum Genet. 1994 Jun; 54(6):1110-21.
Score: 0.006
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Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am J Med Genet. 1993 Sep 15; 47(4):504-11.
Score: 0.005