Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation.
about
Molecular regulators of nerve conduction - Lessons from inherited neuropathies and rodent genetic modelsActive gene repression by the Egr2.NAB complex during peripheral nerve myelinationUnsupervised assessment of microarray data quality using a Gaussian mixture modelThe PMP22 gene and its related diseases.Progesterone synthesis in the nervous system: implications for myelination and myelin repair.Molecular genetics of charcot-marie-tooth disease: from genes to genomes.Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Animal models of Charcot-Marie-Tooth disease type 1A.Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B miceAn axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient.Signals to promote myelin formation and repair.Endoplasmic Reticulum Protein Quality Control Failure in Myelin Disorders.A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients.A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease.Caveats in the Established Understanding of CMT1A.PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models.Sox2 expression in Schwann cells inhibits myelination in vivo and induces influx of macrophages to the nerve.Hereditary neuropathy with liability to pressure palsies: description of seven patients without known family history.Spotlight on...Ned Mantei. Interview by Daniela Ruffell.Aging of myelinating glial cells predominantly affects lipid metabolism and immune response pathways.Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models
P2860
Q28084798-2FE13ABD-366F-4A37-88DB-F443BD5C1AA1Q28564369-07E5EBBD-F894-4E23-8CA1-1C2571646978Q33471828-17E9021A-24FC-46C0-B710-48639708A109Q34316615-4B84E61E-ABC8-4A77-8106-8A1AD6D449E8Q35743169-FCCB880D-1339-45BF-9D58-5E0630D623C2Q36493294-45C4455E-855D-4F48-B9F8-1645EF7C75F8Q36507140-7A72F4B8-97AE-4578-B472-CDDAAB4B3F1DQ36507179-552C7AED-DA99-4176-9EDB-C12D75400F59Q36507183-92C17002-D51A-49E6-8828-A9511F46ACAAQ36750041-CADEB786-6F8E-40B6-A0D9-1EB16CA444E2Q37277663-42E0A598-47DA-4ABF-BA37-AA151124B857Q37734207-0B7F0D2A-A41E-49A6-945D-DC885479D99AQ39094240-3781FD74-34E6-4C66-96FF-C05B9B4D8A7FQ39673261-A7C74238-340D-4DFF-8446-A9C0B67BB6CAQ41295377-B6765B36-11CA-4EAA-B7A9-FB23522153EAQ41357926-EBAA2E7D-159C-49DA-88B4-160753771862Q45875397-B7D6634A-19D9-4B66-AFDC-CAF9E708A8B8Q46129780-42FDE3CC-AADE-4F3E-A735-3A6EC4F5FCD5Q46206367-DDC9CC65-3013-4C27-8D8C-C5C75528B453Q48557159-F75639B2-2DA5-4263-9568-FF0D98C77C22Q53662944-C70782C5-D77D-4676-BAD8-7304EFEB3CB8Q55670527-6DFBF873-861F-49F0-8265-D4947D735E7F
P2860
Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
Distinct disease mechanisms in ...... age or a Pmp22 point mutation.
@en
Distinct disease mechanisms in ...... age or a Pmp22 point mutation.
@nl
type
label
Distinct disease mechanisms in ...... age or a Pmp22 point mutation.
@en
Distinct disease mechanisms in ...... age or a Pmp22 point mutation.
@nl
prefLabel
Distinct disease mechanisms in ...... age or a Pmp22 point mutation.
@en
Distinct disease mechanisms in ...... age or a Pmp22 point mutation.
@nl
P2093
P1476
Distinct disease mechanisms in ...... age or a Pmp22 point mutation.
@en
P2093
Guya Giambonini-Brugnoli
Johanna Buchstaller
Lukas Sommer
Ned Mantei
Ueli Suter
P304
P356
10.1016/J.NBD.2004.10.023
P577
2005-04-01T00:00:00Z