|
|
|
|
Acta Neuropathol 2002,Sep,01;104(3):287-96; (PMID: 12172915)
[...]Charcot-Marie-Tooth type 1 disease (CMT1) is a group of inherited demyelinating neuropathies caused by mutations in genes expressed by myelinating Schwann cells.[...]The study was performed by immunohistochemical analysis using antibodies against collagen types I, III, IV, V, and VI and the glycoproteins fibronectin, laminin, vitronectin and tenascin. Up-regulation of collagens, fibronectin and laminin was commonly found in nerve[...]
|
|
|
Acta Neuropathol 2002,Jul,01;104(1):45-52; (PMID: 12070663)
[...]chronic inflammatory demyelinating polyneuropathy (CIDP) (n=6), vasculitic neuropathy (n=6), Charcot-Marie-Tooth disease type I (CMT I) (n=4)] and 4 normal controls. CML was detected in the perineurium[...]
|
|
|
Srp Arh Celok Lek 2002,Mar,01;130(3-4):59-63; (PMID: 12154515)
Charcot-Marie-Tooth type 1A disease (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are common inherited disorders of the peripheral nervous system associated with duplication and [...]
|
|
|
Neurogenetics 2002,Mar,01;4(1):37-41; (PMID: 12030330)
[...]Dominant and recessive mutations in EGR2 are associated with peripheral myelinopathies, such as Charcot-Marie-Tooth disease type 1, Dejerine-Sottas syndrome, and congenital hypomyelinating neuropathy. One recessive mutation (I268N) is known to affect the [...]
|
|
|
Curr Neurol Neurosci Rep 2002,Jan,01;2(1):70-7; (PMID: 11898586)
Charcot-Marie-Tooth (CMT) disease represents a clinically and genetically heterogeneous group of inherited neuropathies caused by aberration of the intimate relationship between the myelin sheath[...]
|
|
|
Br J Haematol 2001,Nov,01;115(2):323-5; (PMID: 11703329)
[...] type 1 (HMSN-1) is an autosomal dominant disorder, which is usually not associated with neoplastic diseases. The disease predisposes to severe vincristine neurotoxicity. We report a 31-year-old women with recurrent Hodgkin's lymphoma[...]
|
|
|
Kaohsiung J Med Sci 2001,Sep,01;17(9):484-8; (PMID: 11842652)
[...]superior mesenteric artery (SMA) syndrome associated with hereditary motor and sensory neuropathy (HMSN) type II is reported. The initial presentations of HMSN type II were developmental delay and gait disturbance[...]
|
|
|
Pharmacogenomics 2001,Aug,01;2(3):263-72; (PMID: 11535114)
[...]) gene that causes Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia Type 2 (SPG2) disorders of CNS myelination. Similarities are drawn with the peripheral neuropathies Charcot-Marie-Tooth disease Type 1 (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) that are also caused by dosage effects and mutations in a single [...]
|
|
|
Neurology 2001,Jul,10;57(1):101-5; (PMID: 11445635)
OBJECTIVE: To identify the molecular basis of a demyelinating Charcot-Marie-Tooth disease type 1 (CMT1) with presumed autosomal recessive inheritance. BACKGROUND: CMT1, an inherited motor and [...]
|
|
|
Neurogenetics 2001,Jul,01;3(3):153-7; (PMID: 11523566)
[...] including congenital hypomyelinating neuropathy, Dejerine-Sottas neuropathy (DSN), and Charcot-Marie-Tooth disease type 1. We screened 170 unrelated neuropathy patients without mutations involving the peripheral myelin protein 22 gene[...]
|
 1 2 3 4 5 6 7 8 
|
|
