Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
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Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approachThe Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel SequencingGenetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.Recent advances in the genetic neuropathies.Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.Hereditary Neuropathies.Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3' UTR in NEFH.Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.
P2860
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P2860
Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Diagnostic algorithms in Charc ...... basis of 1206 index patients.
@en
type
label
Diagnostic algorithms in Charc ...... basis of 1206 index patients.
@en
prefLabel
Diagnostic algorithms in Charc ...... basis of 1206 index patients.
@en
P2093
P2860
P356
P1433
P1476
Diagnostic algorithms in Charc ...... basis of 1206 index patients.
@en
P2093
D Wieczorek
K Eggermann
M Elbracht
M von der Hagen
S Rudnik-Schöneborn
P2860
P356
10.1111/CGE.12594
P577
2015-04-08T00:00:00Z