Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
about
Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approachCell signaling and mitochondrial dynamics: Implications for neuronal function and neurodegenerative diseaseA mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover.Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesMitochondrial dynamics--fusion, fission, movement, and mitophagy--in neurodegenerative diseasesMFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.Classification and diagnosis of the inherited neuropathies.The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in TaiwanHereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement.Mitophagy: therapeutic potentials for liver disease and beyond.MFN2 mutations cause severe phenotypes in most patients with CMT2A.Cup to disc ratio by optical coherence tomography is abnormal in multiple sclerosis.Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction.Mitofusin 2 (Mfn2) links mitochondrial and endoplasmic reticulum function with insulin signaling and is essential for normal glucose homeostasis.Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication.Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations.The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria.Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutationsRapidly Progressive Polyneuropathy in a Patient With Monoclonal Gammopathy: A Case Report of POEMS Syndrome and Beyond.Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel SequencingImproving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysisSegregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutationsInherited neuropathies: clinical overview and update.A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene.Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Neurodegeneration as a consequence of failed mitochondrial maintenance.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.A review of genetic counseling for Charcot Marie Tooth disease (CMT).Mitochondrial fusion proteins and human diseases.Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.Ophthalmic manifestations of inherited neurodegenerative disorders.Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease.
P2860
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P2860
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
Early onset severe and late-on ...... mitofusin 2 (MFN2) mutations.
@en
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2
@nl
type
label
Early onset severe and late-on ...... mitofusin 2 (MFN2) mutations.
@en
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2
@nl
prefLabel
Early onset severe and late-on ...... mitofusin 2 (MFN2) mutations.
@en
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2
@nl
P2093
P356
P1433
P1476
Early onset severe and late-on ...... mitofusin 2 (MFN2) mutations.
@en
P2093
P304
P356
10.1093/BRAIN/AWL174
P407
P577
2006-07-10T00:00:00Z