578 related articles for article (PubMed ID: 23224996)
21. A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.
Moszyńska I; Kabzińska D; Sinkiewicz-Darol E; Kochański A
Acta Biochim Pol; 2009; 56(4):627-30. PubMed ID: 19830275
[TBL] [Abstract][Full Text] [Related]
22. Genetic basis of inherited peripheral neuropathies.
Suter U; Patel PI
Hum Mutat; 1994; 3(2):95-102. PubMed ID: 7515304
[TBL] [Abstract][Full Text] [Related]
23. PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1.
Zhan Y; Zi X; Hu Z; Peng Y; Wu L; Li X; Jiang M; Liu L; Xie Y; Xia K; Tang B; Zhang R
Muscle Nerve; 2015 Jul; 52(1):69-75. PubMed ID: 25522693
[TBL] [Abstract][Full Text] [Related]
24. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
Roa BB; Garcia CA; Pentao L; Killian JM; Trask BJ; Suter U; Snipes GJ; Ortiz-Lopez R; Shooter EM; Patel PI; Lupski JR
Nat Genet; 1993 Oct; 5(2):189-94. PubMed ID: 8252046
[TBL] [Abstract][Full Text] [Related]
25. A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia.
Zambon AA; Pitt M; Laurà M; Polke JM; Reilly MM; Muntoni F
J Peripher Nerv Syst; 2020 Sep; 25(3):303-307. PubMed ID: 32412171
[TBL] [Abstract][Full Text] [Related]
26. Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies.
Kawamoto N; Hamada Y; Kobayashi S; Naruse H; Ishiura H; Matsukawa T; Mitsui J; Tsuji S; Sonoo M; Toda T
J Peripher Nerv Syst; 2023 Sep; 28(3):513-517. PubMed ID: 37170477
[TBL] [Abstract][Full Text] [Related]
27. Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.
Li J; Ghandour K; Radovanovic D; Shy RR; Krajewski KM; Shy ME; Nicholson GA
Arch Neurol; 2007 Jul; 64(7):974-8. PubMed ID: 17620487
[TBL] [Abstract][Full Text] [Related]
28. Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy.
Liao YC; Tsai PC; Lin TS; Hsiao CT; Chao NC; Lin KP; Lee YC
Sci Rep; 2017 Nov; 7(1):15363. PubMed ID: 29127354
[TBL] [Abstract][Full Text] [Related]
29. Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele.
Adlkofer K; Naef R; Suter U
J Neurosci Res; 1997 Sep; 49(6):671-80. PubMed ID: 9335255
[TBL] [Abstract][Full Text] [Related]
30. Charcot-Marie-Tooth disease and related peripheral neuropathies.
De Jonghe P; Timmerman V; Nelis E; Martin JJ; Van Broeckhoven C
J Peripher Nerv Syst; 1997; 2(4):370-87. PubMed ID: 10975746
[TBL] [Abstract][Full Text] [Related]
31. Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development.
Lopez-Anido C; Poitelon Y; Gopinath C; Moran JJ; Ma KH; Law WD; Antonellis A; Feltri ML; Svaren J
Hum Mol Genet; 2016 Jul; 25(14):3055-3069. PubMed ID: 27288457
[TBL] [Abstract][Full Text] [Related]
32. Inherited peripheral neuropathy.
Keller MP; Chance PF
Semin Neurol; 1999; 19(4):353-62. PubMed ID: 10716658
[TBL] [Abstract][Full Text] [Related]
33. Variable phenotypes are associated with PMP22 missense mutations.
Russo M; Laurá M; Polke JM; Davis MB; Blake J; Brandner S; Hughes RA; Houlden H; Bennett DL; Lunn MP; Reilly MM
Neuromuscul Disord; 2011 Feb; 21(2):106-14. PubMed ID: 21194947
[TBL] [Abstract][Full Text] [Related]
34. A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
Kleopa KA; Georgiou DM; Nicolaou P; Koutsou P; Papathanasiou E; Kyriakides T; Christodoulou K
Neurogenetics; 2004 Sep; 5(3):171-5. PubMed ID: 15205993
[TBL] [Abstract][Full Text] [Related]
35. Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies.
Hanemann CO; Stoll G; D'Urso D; Fricke W; Martin JJ; Van Broeckhoven C; Mancardi GL; Bartke I; Müller HW
J Neurosci Res; 1994 Apr; 37(5):654-9. PubMed ID: 8028042
[TBL] [Abstract][Full Text] [Related]
36. The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease.
Sinkiewicz-Darol E; Kabzińska D; Moszyńska I; Kochański A
Acta Biochim Pol; 2010; 57(3):373-7. PubMed ID: 20842290
[TBL] [Abstract][Full Text] [Related]
37. Tetraspan myelin protein PMP22 and demyelinating peripheral neuropathies: new facts and hypotheses.
Müller HW
Glia; 2000 Jan; 29(2):182-5. PubMed ID: 10625337
[TBL] [Abstract][Full Text] [Related]
38. Screening for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsy in archival nerve biopsy samples by direct-double-differential PCR.
Beckmann A; Schröder JM
Acta Neuropathol; 2000 Nov; 100(5):459-63. PubMed ID: 11045666
[TBL] [Abstract][Full Text] [Related]
39. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
Mersiyanova IV; Ismailov SM; Polyakov AV; Dadali EL; Fedotov VP; Nelis E; Löfgren A; Timmerman V; van Broeckhoven C; Evgrafov OV
Hum Mutat; 2000; 15(4):340-7. PubMed ID: 10737979
[TBL] [Abstract][Full Text] [Related]
40. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice.
Adlkofer K; Martini R; Aguzzi A; Zielasek J; Toyka KV; Suter U
Nat Genet; 1995 Nov; 11(3):274-80. PubMed ID: 7581450
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]