Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.
about
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.Lentivirus vector-mediated mitofusin-2 overexpression in rat ovary changes endocrine function and promotes follicular development in vivo.MFN2 mutations cause severe phenotypes in most patients with CMT2A.Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family.Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction.Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria.MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.Mitochondrial fusion proteins and human diseases.Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.Acute optic neuropathy associated with a novel MFN2 mutation.Late onset autosomal dominant Charcot-Marie-Tooth 2 neuropathy in a Costa Rican family.Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs.Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.Genetic epidemiology of Charcot-Marie-Tooth disease.Missense mutations ofmitofusin 2in axonal Charcot–Marie–Tooth neuropathy: polymorphic or incomplete penetration?Mutational mechanisms inMFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations
P2860
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P2860
Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.
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
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-hant
name
Charcot-Marie-Tooth with pyram ...... th and without MFN2 mutations.
@en
Charcot-Marie-Tooth with pyram ...... th and without MFN2 mutations.
@nl
type
label
Charcot-Marie-Tooth with pyram ...... th and without MFN2 mutations.
@en
Charcot-Marie-Tooth with pyram ...... th and without MFN2 mutations.
@nl
prefLabel
Charcot-Marie-Tooth with pyram ...... th and without MFN2 mutations.
@en
Charcot-Marie-Tooth with pyram ...... th and without MFN2 mutations.
@nl
P2093
P1433
P1476
Charcot-Marie-Tooth with pyram ...... th and without MFN2 mutations.
@en
P2093
G A Nicholson
G Walizada
M L Kennerson
P304
P356
10.1212/01.WNL.0000171345.62270.29
P407
P577
2005-08-01T00:00:00Z