| 1 | CMT1B, MPZ
|
| Late-onset Charcot-Marie-Tooth disease type 1B due to a novel mutation in the extracellular disulfide bridge of MPZ gene.
|
| Nishiyama S, Sugeno N, Tateyama M, Aoki M.
|
| Clin Neurol Neurosurg 115(2):208-9. doi: 10.1016/j.clineuro.2012.04.016. Epub 2012 May 24. No abstract available.
2013
|
| 2 | CMT1B, MPZ
|
| A new truncating MPZ mutation associated with a very mild CMT1 B phenotype.
|
| Piazza S, Baldinotti F, Fogli A, Conidi ME, Michelucci A, Ienco EC, Mancuso M, Simi P, Siciliano G.
|
| Neuromuscul Disord 20(12):817-9. Epub 2010 Sep 17.
2010
|
| 3 | CMT1B, CMT2I, CMT2J, CMT3A, MPZ
|
| Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
|
| Mandich P, Fossa P, Capponi S, Geroldi A, Acquaviva M, Gulli R, Ciotti P, Manganelli F, Grandis M, Bellone E.
|
| Eur J Hum Genet 17(9):1129-34. Epub 2009 Mar 18.PMID: 19293842 2009
|
| 4 | CMT1B, MPZ
|
| Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
|
| Grandis M, Vigo T, Passalacqua M, Jain M, Scazzola S, La Padula V, Brucal M, Benvenuto F, Nobbio L, Cadoni A, Mancardi GL, Kamholz J, Shy ME, Schenone A.
|
| Hum Mol Genet 17(13):1877-89. Epub 2008 Mar 12.
2008
|
| 5 | CMT1B, MPZ
|
| A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression.
|
| Magot A, Latour P, Mussini JM, Mourtada R, Guiheneuc P, Pereon Y.
|
| Muscle Nerve 38(2):1055-9.
2008
|
| 6 | CMT1B, MPZ
|
| New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.
|
| Floroskufi P, Panas M, Karadima G, Vassilopoulos D.
|
| Muscle Nerve 35(5):667-9.
2007
|
| 7 | CMT1B, MPZ
|
| Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.
|
| Fabrizi GM, Pellegrini M, Angiari C, Cavallaro T, Morini A, Taioli F, Cabrini I, Orrico D, Rizzuto N.
|
| Neuromuscul Disord 16(3):183-7. Epub 2006 Feb 20. 2006
|
| 8 | MPZ, CMT1B
|
| Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.
|
| Matsuyama W, Nakagawa M, Takashima H, Osame M.
|
| Acta Neuropathol (Berl) 103(5):501-8. Epub 2002 Jan 31. 2002
|
| 9 | CMT1B, MPZ
|
| Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible hotspot on Thr124Met.
|
| Senderek J, Hermanns B, Lehmann U, Bergmann C, Marx G, Kabus C, Timmerman V, Stoltenburg-Didinger G, Schroder JM.
|
| Brain Pathol 10(2):235-48. 2000
|
| 10 | CMT1B
|
| Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome.
|
| Fabrizi GM, et al.
|
| J Neurol Neurosurg Psychiatry 66(3):386-9. 1999
|
| 11 | MPZ, CMT1B
|
| A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.
|
| Nakagawa M, et al.
|
| Neurology 52(6):1271-5. 1999
|
| 12 | CMT1B, MPZ
|
| Germline mosaicism of MPZ gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomatocytosis.
|
| Takashima H, et al.
|
| Neuromuscul Disord 9(4):232-8 1999
|
| 13 | CMTDID, CMT1B, CMT3A, MPZ
|
| Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.
|
| Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG.
|
| J Neurol Neurosurg Psychiatry 67(2):174-9. 1999
|
| 14 | CMT1B
|
| A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype.
|
| Tachi N, et al.
|
| J Neurol Sci 156 : 167-171. 1998
|
| 15 | CMT1B, MPZ
|
| Novel mutation of the myelin PO gene in a CMT1B family.
|
| Sorour E, et al.
|
| Hum Mutat 9 : 74-77. 1997
|
| 16 | CMT1B, MPZ
|
| Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B : a 20-year study.
|
| Bird TD, et al.
|
| Ann Neurol 41 : 463-469. 1997
|
| 17 | CMT1B, MPZ
|
| De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B.
|
| Komiyama A, Ohnishi A, Izawa K, Yamamori S, Ohashi H, Hasegawa O.
|
| J Neurol Sci 149(1):103-9. 1997
|
| 18 | CMT1B, MPZ
|
| Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B.
|
| Ikegami T, Ikeda H, Mitsui T, Hayasaka K, Ishii S.
|
| Am J Med Genet 71(2):246-8. No abstract available. 1997
|
| 19 | CMT1B, MPZ
|
| Identification of a 4 bp deletion (1560del4) in Po gene in a family withsevere Charcot-Marie-Tooth disease.
|
| Bellone E, et al.
|
| Hum Mutat 7 : 377. 1996
|
| 20 | CMT1B, MPZ
|
| Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
|
| Roa BB, et al.
|
| Hum Mutat 7 : 36-45. 1996
|
| 21 | CMT1B, MPZ
|
| A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
|
| Ikegami T, et al.
|
| Biochem Biophys Res Commun 222 : 107-110. 1996
|
| 22 | CMT1B, CMT3A, HNPP, MPZ
|
| Clinical phenotypes of different MPZ (Po) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
|
| Warner LE, et al.
|
| Neuron 17 : 451-460. 1996
|
| 23 | CMT1B, MPZ
|
| Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies.
|
| Meijerink PHS, et al.
|
| Ann Neurol 40 : 672-675. 1996
|
| 24 | CMT1B, MPZ
|
| Settling the myelin protein zero question in CMT1B.
|
| Warner LE, et al.
|
| Nat Genet 11 : 119-120. 1995
|
| 25 | CMT1B, MPZ
|
| Charcot-Marie-Tooth type 1B neuropathy : third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene.
|
| Blanquet-Grossard F, et al.
|
| Clin Genet 48 : 281-283. 1995
|
| 26 | CMT1B, MPZ
|
| Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.
|
| Latour P, et al.
|
| Hum Mutat 6 : 50-54. 1995
|
| 27 | CMT1A, CMT1B, HNPP
|
| Genetic basis of inherited peripheral neuropathies.
|
| Suter U, et al.
|
| Hum Mutat 3 : 95-102. 1994
|
| 28 | CMT1B
|
| Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.
|
| Thomas FP, et al.
|
| Acta Neuropathol 87 : 91-97. 1994
|
| 29 | CMT1B, MPZ
|
| Identification of a De novo insertional mutation in Po in a patient with a Dˇjˇrine-Sottas syndrome (DSS) phenotype.
|
| Rautenstrauss B, et al.
|
| Hum Mol Genet 3 : 1701-1702. 1994
|
| 30 | CMT1B
|
| Rapid screening of myelin genes in CMT1 patients by SSCP analysis : identification of new mutations and polymorphisms in the Po gene.
|
| Nelis E, et al.
|
| Hum Genet 94 : 653-657. 1994
|
| 31 | CMT1B
|
| Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
|
| Nelis E, et al.
|
| J Med Genet 31 : 811-815. 1994
|
| 32 | MPZ, CMT1B
|
| Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B patients.
|
| Su Y, et al.
|
| Proc Natl Acad Sci U S A 90 : 10856-10860. 1993
|
| 33 | CMT1B, MPZ
|
| New mutation of the myelin Po gene in a pedigree of Charcot-Marie-Tooth neuropathy type-1.
|
| Himoro M, et al.
|
| Biochem Mol Biol Int 31 : 169-174. 1993
|
| 34 | CMT1B, MPZ
|
| Mutation of the myelin Po gene in Charcot-Marie-Tooth neuropathy type 1B.
|
| Hayasaka K, et al.
|
| Hum Mol Genet 2 : 1369-1372. 1993
|
| 35 | MPZ, CMT1B
|
| Deletion of the serine 34 codon from the major peripheral myelin protein Po gene in Charcot-Marie-Tooth disease type 1B.
|
| Kulkens T, et al.
|
| Nat Genet 5 : 35-39. 1993
|
| 36 | MPZ, CMT1B
|
| Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin Po gene.
|
| Hayasaka K, et al.
|
| Nat Genet 5 : 31-34. 1993
|
| 37 | MPZ, CMT1B
|
| Mutation of the myelin Po gene in Charcot-Marie-Tooth neuropathy type 1.
|
| Hayasaka K, et al.
|
| Biochem Biophys Res Commun 194 : 1317-1322. 1993
|
| 38 | MPZ, CMT1B
|
| De novo mutation of the myelin Po gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
|
| Hayasaka K, et al.
|
| Nat Genet 5 : 266-268. 1993
|
| 39 | CMT1B
|
| Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcgamma receptor gene region.
|
| Lebo RV, et al.
|
| Hum Genet 88 : 1-12. 1991
|
| 40 | CMT1B
|
| Multicolor fluorescence in situ hybridization and pulsed field electrophoresis dissect CMT1B gene region.
|
| Lebo RV, et al.
|
| Hum Genet 88 : 13-20. 1991
|
| 41 | CMT1B
|
| Isolation and use of chromosome 1 probes for linkage studies on Charcot-Marie-Tooth disease.
|
| Griffiths LR, et al.
|
| Ann Hum Genet 54 : 31-37. 1990
|
| 42 | CMT1A, CMT1B
|
| Linkage studies in Charcot-Marie-Tooth disease type 2 (CMT2): evidence that CMT type 2 and type 1 are distinct genetic entities.
|
| Loprest L, et al.
|
| Am J Hum Genet 47 : A190. 1990
|
| 43 | CMT1A, CMT1B
|
| Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).
|
| Chance PF, et al.
|
| Am J Hum Genet 47 : 915-925. 1990
|
| 44 | CMT1A, CMT1B
|
| Genetic linkage of hereditary motor and sensory neuropathy type 1 (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17.
|
| Defesche JC, et al.
|
| Neurology 40 : 1450-1453. 1990
|
| 45 | CMT1B
|
| Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers
|
| Middleton-Price HR, Harding AE, Berciano J, Pastor JM, Huson SM, Malcolm S.
|
| Genomics 4 : 192-197. 1989
|
| 46 | CMT1B
|
| Linkage analysis of the Duffy blood group marker with several chromosome 1 genes in an extended pedigree with Charcot-Marie-Tooth disease.
|
| Raeymaekers P, et al.
|
| Hum Genet 81 : 231-233. 1989
|
| 47 | CMT1B
|
| Exclusion analysis of Charcot-Marie-Tooth neuropathy (CMT1) with chromosome 1p markers.
|
| Raeymaekers P, et al.
|
| Cytogenet Cell Genet 50 : 178-180. 1989
|
| 48 | CMT1B
|
| Chromosome 1 Charcot-Marie-Tooth locus in Fc-gamma-RII gene region.
|
| Lebo RV, et al.
|
| Am J Hum Genet 45 : A148. 1989
|
| 49 | CMT1B
|
| [Genetic linkage of the autosomal dominant form of Charcot-Marie-Tooth amyotrophy and 3 genetic markers on chromosome 1]
|
| Ferak V, Kadasi L, Hrubisko M, Sivakova D, Veghova E.
|
| Besk Neurol Neurochir 52 : 200-207. 1989
|
| 50 | CMT1B
|
| Absence of linkage with the Duffy blood group in a family with Charcot-Marie-Tooth neuropathy.
|
| Raeymaekers P, et al.
|
| J Neurol Sci 88 : 145-150. 1988
|
| 51 | CMT1B, GBA
|
| Linkage between the loci for autosomal dominant Charcot-Marie-Tooth neuropathy type 1 and human glucocerebrosidase.
|
| Ionasescu V, et al.
|
| Cytogenet Cell Genet 47 : 173-174. 1988
|
| 52 | APCS, CMT1B
|
| Linkage between the loci for autosomal dominant neuronal Charcot-Marie-Tooth neuropathy (CMT1) and serum amyloid P component (APCS) on human chromosome 1.
|
| Ionasescu V, et al.
|
| Cytogenet Cell Genet 47 : 175-176. 1988
|
| 53 | APOA2, CMT1B
|
| Evidence for linkage of Charcot-Marie-Tooth neuropathy (CMTI) to apolipoprotein A2 (Apo-A2).
|
| Ionasescu V, et al.
|
| Am J Hum Genet 42 : 74-76. 1988
|
| 54 | CMT1B
|
| Chromosome 1 linkage studies in Charcot-Marie-Tooth neuropathy type 1.
|
| Griffiths LR, et al.
|
| Am J Hum Genet 42 : 756-771. 1988
|
| 55 | CMT1B
|
| Linkage studies on Charcot-Marie-Tooth neuropathy type 1.
|
| Griffiths LR, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 624. 1987
|
| 56 | CMT1B
|
| Linkage relationships of Charcot-Marie-Tooth neuropathy (HMSNIb) to chromosome 1 markers.
|
| Chance P, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 592. 1987
|
| 57 | APOA2, CMT1B
|
| Linkage between autosomal dominant Charcot-Marie-Tooth neuropathy type 1 (CMT1) and apolipoprotein A2 (APOA2).
|
| Ionasescu V, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 633. 1987
|
| 58 | ACKR1, CMT1B
|
| No linkage between autosomal dominant Charcot-Marie-Tooth neuropathy type 1 (CMT1) and Duffy blood group (FY).
|
| Ionasescu V, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 633. 1987
|
| 59 | CMT1B
|
| Linkage between autosomal dominant Charcot-Marie-Tooth neuropathy type 1 (CMT1) and human glucocerebrosidase (GBA).
|
| Ionasescu V, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 633. 1987
|
| 60 | CMT1B
|
| Regional chromosomal assignment of human renin gene to 1q12-qter and use in linkage studies in Charcot-Marie-Tooth disease.
|
| Griffiths LR, et al.
|
| Cytogenet Cell Genet 45 : 231-233. 1987
|
| 61 | CMT1B
|
| Genetic linkage relationships of Charcot-Marie-Tooth disease (HMNS-Ib) to chromosome 1 markers.
|
| Chance PF, et al.
|
| Neurology 37 : 325-329. 1987
|
| 62 | CMT1B
|
| Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I).
|
| Bird TD, et al.
|
| Ann Neurol 14 : 679-684. 1983
|
| 63 | CMT1B
|
| Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.
|
| Bird TD, Ott J, Giblett ER.
|
| Am J Hum Genet 34 : 388-394. 1982
|
| 64 | CMT1B
|
| Evidence for linkage of type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1.
|
| Guiloff RJ, Thomas PK, Contreras M, Armitage S, Schwarz G, Sedgwick EM.
|
| Ann Hum Genet 46 : 25-27. 1982
|