[1]
Drac H., Rowińska-Marcińska K.: Genetycznie uwarunkowane neuropatie ruchowo-czuciowe, [w:] Choroby nerwowo-mięśniowe, Hausmanowa-Petrusewicz I. (red.), PWN, Warszawa 1999.
[2]
De Jonghe P.J.L.: The inherited neuropathies of the peripheral nervous
system in the DNA era: genotype-phenotype correlations. Praca doktorska, Antwerpia 1998.
[3]
Steiner I., Gotkine M., Steiner-Birmanns B. et al.: Severity over generations of Charcot-Marie-Tooth disease type 1A. J. Neurol., 2008:255,
813.
[4]
Shy M.E.: Hereditary motor and sensory neuropathies: An overview of
clinical, genetic, electrophysiologic, and pathologic features, [w:] Peripheral Neuropathy. Dyck P.J., Thomas P.K (red.), Elsevier Saunders, 2005.
[5]
Krajewski K.M., Lewis R.A., Fuerst A.R. et al.: Neurological dysfunction
and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain,
2000: 123, 1516.
[6]
Schröder J.M.: Hereditary motor and sensory neuropathies, [w:] Pathology of peripheral nerves, Schröder J.M. (red.), Springer, 2001.
[7]
Raeymaekers P., Timmerman V., Nelis E. et al.: Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a).
Neuromusc. Disord., 1991, 1, 93.
[8]
Lupski J.R., de Oca-Luna R.M., Slaugenhaupt S. et al: DNA duplication
associated with Charcot-Marie-Tooth disease type 1A. Cell, 1991: 66,
219.
[9]
Patel P.I. Roa B.B., Welcher A.A. et al: The gene for the peripheral myelin
protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
Nat. Genet., 1992: 1, 159.
[10]
Lupski J.R., Wise C., Cuvano A. et al.: Gene dosage is a mechanism for
Charcot-Marie-Tooth disease type 1A. Nat. Genet., 1992: 1, 29.
[11]
Roa B.B., Greenberg F, Gunartne E. et al.: Duplication of the PMP22 gene
in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy. Hum. Genet., 1996: 97, 642.
[12]
Roa B.B., Garcia C.A., Suter U. et al.: Charcot-Marie-Tooth disease type
1A. Association with a spontaneous point mutation in the PMP22 gene.
N. Engl. J. Med., 1993: 329, 96.
[13]
Warner L.E., Roa B.B., Lupski J.R.: 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. Mut., 1996: 8, 362.
[14]
Chance P.F., Anderson P.K., Lepig K.A. et al.: Deletion associated with
hereditary neuropathy with liability to pressure palsies. Cell, 1993: 72,
143.
[15]
Nicholson G.A., Valentijn R.J., Cherryson A.K.: A frame shift mutation
in the PMP22 gene in hereditary neuropathy with liability to pressure
palsies. Nat. Genet., 1994: 6, 263.
[16]
Le Guern E., Gouidier B., Mabin D. et al.: Patients homozygous for the
17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. Ann.
Neurol., 1997: 41, 104.
[17]
Huxley C., Passage C., Robertson A.M. et al.: Correlation between varying levels of PMP22 expression and the degree of demyelination and
reduction in nerve conduction velocity in transgenic mice. Hum. Mol.
Genet., 1998: 7, 449.
[18]
Schenone A., Nobio L., Mandich P. et al.: Underexpression of messenger
RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. Neurology, 1997: 48, 445.
[19]
Yoshikawa H., Nishimura T., Nakatsuji Y. et al.: Elevated expression of
messenger RNA for peripheral myelin protein 22 in biopsed peripheral
nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann.
Neurol., 1994: 35, 445.
[20]
Koenig H.L., Schumacher M., Ferraz B.: Progesterone synthesis and
myelin formation by Schwann cells. Science, 1995: 268, 1500.
[21]
Désernaud F., Do Thi A.N., Brown A.M. et al.: Progesterone stimulates
the activity of the promoters of Peripheral myelin protein-22 and protein
zero genes in Schwann cells. J. Neuroch., 1998: 71, 1765.
[22]
Sereda M.W., zu Horste G.M., Suter U. et al.: Therapeutic administration
of progesterone antagonist in a model of Charcot-Marie-Tooth disease
(CMT-1A). Nat. Med., 2003: 9, 1533.
[23]
Kaya F., Belin S., Bourgeois P. et al.: Ascorbic acid inhibits PMP22
expression by reducing cAMP levels. Neuromusc. Disord., 2007: 17,
248.
[24]
Passage E., Norreel J.C., Noack-Fraissignes P. et al.: Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth
disease. Nat. Med., 2004: 10, 396.
[25]
Pareyson D., Schenone A., Fabrizi G.A. et al.: A multicenter, randomized,
double-blind, placebo-controlled trial of long-term ascorbic treatment in
Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): The study protocol
[EudraCT no: 2006-000032-27]. Pharmacol. Res., 2006: 54, 436.
[26]
Gopalkrishnan K., Katkam L.R., Sahdeva D. et al.: Effects of an antiprogestin onapristone on the endometrium of bonnet monkeys: morpphometric and ultrastructural studies. Biol. Reprod., 2003: 68, 1959.
Scholar Google
PubMed