From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins.
about
Purification and cloning of PZR, a binding protein and putative physiological substrate of tyrosine phosphatase SHP-2Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descentThe first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis.Human nerve pathology caused by different mutational mechanisms of the PMP22 gene.The Roussy-Lévy family: from the original description to the gene.Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.Nerve-dependent changes in skeletal muscle myosin heavy chain after experimental denervation and cross-reinnervation and in a demyelinating mouse model of Charcot-Marie-Tooth disease type 1A.Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathySteroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I.Epitope-tagged P(0) glycoprotein causes Charcot-Marie-Tooth-like neuropathy in transgenic mice.New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood.Molecular basis of genetic heterogeneity: role of the clinical neurologist.Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease.Many facets of the peripheral myelin protein PMP22 in myelination and disease.Distal axonopathy in peripheral nerves of PMP22-mutant mice.Transient deafness in young candidates for cochlear implants.Altered gene expression in Schwann cells of connexin32 knockout animals.Peripheral neuropathies: Molecular diagnosis of Charcot-Marie-Tooth disease.Psychiatric disorders appear equally in patients with myotonic dystrophy, facioscapulohumeral dystrophy, and hereditary motor and sensory neuropathy type I.What's the Function of Connexin 32 in the Peripheral Nervous System?
P2860
Q22004162-D6535F58-0C5B-4C8A-B86A-8226C62B179AQ33678294-B70846B3-6ED8-443D-8C2B-513FF2A03806Q33680424-A6032C34-94A9-4064-B8ED-BBA88923D866Q33735702-17929916-2E00-44D7-A704-BBA88623130AQ33748114-F58C3963-1678-4446-9741-8FAE3ECDAF5EQ33787386-FD1FA184-4021-4AAD-8ED2-7AE5CF8B64DBQ33879547-1840219F-2D58-42E7-99FC-B392DFD2C912Q34044153-1C9A6319-83B1-41B8-B7DE-AE1C72542BE6Q34141813-A1E8269A-1AB3-431E-9134-C6A6C54DB290Q34432090-4BBA88BE-B358-40EB-9CDC-7818B0B1148CQ35452187-CCCC2267-134F-4D1B-90E0-3891F66D01E9Q35460098-9A36D62D-5712-4CBF-968F-965AE39682A0Q35484335-02F87992-1020-42FC-A08F-D07B904599FFQ36326426-C2FAE6A7-3889-47D8-9AAA-C0A9B2B427C7Q37876789-FE989F40-3875-40A7-BEB0-0F8C28C248E8Q41177365-86CF9D73-23DC-4C0C-8EAA-D427207F15D3Q41735698-4D2648F6-BA6B-4CE4-ADE2-EDDCF6803296Q47671827-C00E20B0-E791-488C-8A22-21C6E9F86028Q47808553-D1598EE0-2267-4826-82FE-45D730191E4CQ48147302-A98FDFD2-FE88-4926-B794-07DB3CCBD2D3Q48152820-FC311890-52A6-4528-92D3-D4E3CFDE5F5DQ48746526-1259A906-B58C-4F11-85AC-C33B3D8D5617Q50536282-4BDF02AD-2896-4BB2-9EF4-623BC374E554Q51905620-3A48BAE4-043B-4918-9757-B2FBE9CC6EECQ57176565-604B8D61-23B7-4375-9176-FAEC5ED62D39
P2860
From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins.
@en
type
label
From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins.
@en
prefLabel
From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins.
@en
P356
P1433
P1476
From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins.
@en
P2093
Harding AE
P304
P356
10.1093/BRAIN/118.3.809
P407
P478
118 ( Pt 3)
P577
1995-06-01T00:00:00Z