about
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skinA frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyHDAC1/2-Dependent P0 Expression Maintains Paranodal and Nodal Integrity Independently of Myelin Stability through Interactions with NeurofascinsCrystal structure of the extracellular domain of human myelin protein zeroProtein interactions in human genetic diseases.Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome.Classification and diagnosis of the inherited neuropathies.P0 (protein zero) mutation S34C underlies instability of internodal myelin in S63C mice.A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.Charcot-Marie-Tooth disease subtypes and genetic testing strategiesP0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B mice.Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain.Myelin protein zero/P0 phosphorylation and function require an adaptor protein linking it to RACK1 and PKC alpha.Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation.Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis.Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.Update on Charcot-Marie-Tooth disease.Molecular mechanisms of inherited demyelinating neuropathies.Phenotypic presentation of the Ser63Del MPZ mutationProtein-protein interactions in the membrane: sequence, structural, and biological motifs.Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyExperimental therapeutics in hereditary neuropathies: the past, the present, and the future.Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.Diagnosis of Charcot-Marie-Tooth disease.Phylogeny of proteolipid proteins: divergence, constraints, and the evolution of novel functions in myelination and neuroprotection.Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutationsCharcot-marie-tooth disease: seventeen causative genes.Pes cavus and hereditary neuropathies: when a relationship should be suspected.Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Cholesterol: a novel regulatory role in myelin formation.
P2860
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P2860
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Phenotypic clustering in MPZ mutations.
@ast
Phenotypic clustering in MPZ mutations.
@en
type
label
Phenotypic clustering in MPZ mutations.
@ast
Phenotypic clustering in MPZ mutations.
@en
prefLabel
Phenotypic clustering in MPZ mutations.
@ast
Phenotypic clustering in MPZ mutations.
@en
P2093
P356
P1433
P1476
Phenotypic clustering in MPZ mutations.
@en
P2093
Agnes Jáni
Jack Lilien
James Y Garbern
Janne Balsamo
John Kamholz
Karen Krajewski
Marina Grandis
Michael E Shy
Richard A Lewis
P304
P356
10.1093/BRAIN/AWH048
P407
P577
2004-01-07T00:00:00Z