-
Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.
Am J Hum Genet. 1982 May;34(3):388-94
PMID: 6952764
-
Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy.
J Neurosci. 1997 Jun 15;17(12):4662-71
PMID: 9169527
-
Interstitial deletion of (17)(p11.2p11.2) in nine patients.
Am J Med Genet. 1986 Jul;24(3):393-414
PMID: 2425619
-
Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17.
Exp Neurol. 1989 May;104(2):186-9
PMID: 2707366
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
Cell. 1991 Jul 26;66(2):219-32
PMID: 1677316
-
Trembler mouse carries a point mutation in a myelin gene.
Nature. 1992 Mar 19;356(6366):241-4
PMID: 1552943
-
A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.
Proc Natl Acad Sci U S A. 1992 May 15;89(10):4382-6
PMID: 1374899
-
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.
Neuromuscul Disord. 1991;1(2):93-7
PMID: 1822787
-
Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A.
Neurology. 1992 Dec;42(12):2295-9
PMID: 1461382
-
DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
Cell. 1993 Jan 15;72(1):143-51
PMID: 8422677
-
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
Nat Genet. 1992 Apr;1(1):29-33
PMID: 1301995
-
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
PMID: 1303228
-
The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.
Nat Genet. 1992 Jun;1(3):166-70
PMID: 1303229
-
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.
Nat Genet. 1992 Jun;1(3):171-5
PMID: 1303230
-
Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.
Nat Genet. 1992 Jun;1(3):176-9
PMID: 1303231
-
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.
Nat Genet. 1992 Dec;2(4):288-91
PMID: 1303281
-
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
PMID: 1303282
-
Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
N Engl J Med. 1993 Jul 8;329(2):96-101
PMID: 8510709
-
Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17.
Neurology. 1993 Sep;43(9):1806-8
PMID: 8414036
-
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
PMID: 8256814
-
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
Nat Genet. 1993 Nov;5(3):269-73
PMID: 8275092
-
Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A.
Ann Neurol. 1994 Apr;35(4):445-50
PMID: 7512319
-
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
PMID: 8004087
-
A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies.
Nat Genet. 1994 Mar;6(3):263-6
PMID: 8012388
-
Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice.
Nat Genet. 1995 Nov;11(3):274-80
PMID: 7581450
-
Chromosomal duplications in bacteria, fruit flies, and humans.
Am J Hum Genet. 1996 Jan;58(1):21-7
PMID: 8554058
-
Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy.
Muscle Nerve. 1996 Jan;19(1):74-8
PMID: 8538673
-
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
PMID: 8589720
-
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
PMID: 8655146
-
A transgenic rat model of Charcot-Marie-Tooth disease.
Neuron. 1996 May;16(5):1049-60
PMID: 8630243
-
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
Eur J Hum Genet. 1996;4(1):25-33
PMID: 8800924
-
DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies.
Clin Chem. 1996 Jul;42(7):995-8
PMID: 8674212
-
Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA.
Hum Mol Genet. 1996 May;5(5):563-9
PMID: 8733121
-
Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage.
J Neurosci. 1996 Sep 1;16(17):5351-60
PMID: 8757248
-
Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot.
Hum Mol Genet. 1996 Jun;5(6):745-53
PMID: 8776588
-
Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin.
Neuron. 1996 Sep;17(3):435-49
PMID: 8816707
-
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
PMID: 8816708
-
Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.
Hum Genet. 1996 Dec;98(6):710-8
PMID: 8931707
-
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
PMID: 8956042
-
Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.
J Med Genet. 1997 Jan;34(1):43-9
PMID: 9032649
-
A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies.
Neurology. 1997 Feb;48(2):450-2
PMID: 9040737
-
Clinical and morphological phenotype of HMSN 1A mosaicism.
Neuromuscul Disord. 1997 Jan;7(1):27-31
PMID: 9132137
-
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
PMID: 9096765
-
Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.
Genomics. 1997 May 15;42(1):161-4
PMID: 9177788
-
Molecular mechanisms for Charcot-Marie-Tooth disease and related demyelinating peripheral neuropathies.
Cold Spring Harb Symp Quant Biol. 1996;61:659-71
PMID: 9246492
-
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
PMID: 9285799
-
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
Nat Genet. 1997 Oct;17(2):154-63
PMID: 9326934
-
X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.
Hum Genet. 1985;70(1):38-42
PMID: 2987105