Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.
about
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) geneA novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth diseaseMapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathiesManagement of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approachCharcot-Marie-Tooth disease and intracellular trafficRare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesSIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerveThe p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.Auditory nerve is affected in one of two different point mutations of the neurofilament light gene.Ultralate cerebral potentials in a patient with hereditary motor and sensory neuropathy type I indicate preserved C-fibre function.MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.Diaphragmatic weakness in hereditary motor and sensory neuropathyDetection of hereditary motor sensory neuropathy type I in childhood.Hereditary motor and sensory neuropathies.Peroneal muscular atrophy with pyramidal featuresChronic inflammatory demyelinating polyneuropathy in two siblings.Genetic aspects of hereditary motor and sensory neuropathy (types I and II)A family study of Charcot-Marie-Tooth disease.Sensory neuropathy in hereditary spastic paraplegia.Investigation of peripheral neuropathyFamilial bulbospinal neuronopathy with optic atrophy: a distinct entityCamKII inhibitors reduce mitotic instability, connexon anomalies and progression of the in vivo behavioral phenotype in transgenic animals expressing a mutated Gjb1 gene.Should Charcot-Marie-Tooth disease be genetically subgrouped on motor conduction velocity.Linkage of autosomal dominant type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal.Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.Multiple endocrine neoplasia, type 2b: phenotype recognition; neurological features and their pathological basis.The PMP22 gene and its related diseases.Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutationsPhenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.Proximal nerve magnetization transfer MRI relates to disability in Charcot-Marie-Tooth diseasesA molecular basis for hereditary motor and sensory neuropathy disorders.The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.A recessively inherited mixed polyneuropathy of early onset.The nosology of the spinal muscular atrophies.The function of the Periaxin gene during nerve repair in a model of CMT4F.Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2
P2860
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P2860
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.
description
1968 nî lūn-bûn
@nan
1968 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1968 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1968年の論文
@ja
1968年論文
@yue
1968年論文
@zh-hant
1968年論文
@zh-hk
1968年論文
@zh-mo
1968年論文
@zh-tw
1968年论文
@wuu
name
Lower motor and primary sensor ...... n hereditary polyneuropathies.
@ast
Lower motor and primary sensor ...... n hereditary polyneuropathies.
@en
Lower motor and primary sensor ...... n hereditary polyneuropathies.
@nl
type
label
Lower motor and primary sensor ...... n hereditary polyneuropathies.
@ast
Lower motor and primary sensor ...... n hereditary polyneuropathies.
@en
Lower motor and primary sensor ...... n hereditary polyneuropathies.
@nl
prefLabel
Lower motor and primary sensor ...... n hereditary polyneuropathies.
@ast
Lower motor and primary sensor ...... n hereditary polyneuropathies.
@en
Lower motor and primary sensor ...... n hereditary polyneuropathies.
@nl
P1433
P1476
Lower motor and primary sensor ...... n hereditary polyneuropathies.
@en
P2093
P304
P356
10.1001/ARCHNEUR.1968.00470360025002
P577
1968-06-01T00:00:00Z