MFN2 mutations cause severe phenotypes in most patients with CMT2A.
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Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approachMitochondrial Quality Control and Muscle Mass MaintenanceThe genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and managementThe dynamics of the mitochondrial organelle as a potential therapeutic targetThe Interplay between Oncogenic Signaling Networks and Mitochondrial Dynamics.Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability.Mitochondrial fusion is frequent in skeletal muscle and supports excitation-contraction couplingRecommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy.Genetic spectrum of hereditary neuropathies with onset in the first year of lifeThe mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in TaiwanTransient Cerebral Ischemia Promotes Brain Mitochondrial Dysfunction and Exacerbates Cognitive Impairments in Young 5xFAD Mice.CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.Mice Hemizygous for a Pathogenic Mitofusin-2 Allele Exhibit Hind Limb/Foot Gait Deficits and Phenotypic Perturbations in Nerve and MuscleInherited peripheral neuropathies.Update on Charcot-Marie-Tooth disease.Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.Inherited 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.Advances in the laboratory evaluation of peripheral neuropathies.Mitochondrial dynamics: the intersection of form and function.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.A review of genetic counseling for Charcot Marie Tooth disease (CMT).Mitochondrial dynamics: biology and therapy in lung cancer.Charcot-Marie-Tooth disease and pathways to molecular based therapies.Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.Disturbed mitochondrial dynamics and neurodegenerative disorders.Deficiencies in mitochondrial dynamics sensitize Caenorhabditis elegans to arsenite and other mitochondrial toxicants by reducing mitochondrial adaptability.Review: Central nervous system involvement in mitochondrial diseaseTowards a functional pathology of hereditary neuropathies.Mitochondrial dynamics as regulators of cancer biology.Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model.Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.Ethambutol toxicity exacerbating the phenotype of CMT2A2.A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.Structure, function, and regulation of mitofusin-2 in health and disease.Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.Mfn2 ablation causes an oxidative stress response and eventual neuronal death in the hippocampus and cortex.A chronic leg ulcer presenting with Charcot-Marie-Tooth disease and type 2 diabetes: a case report.ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
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P2860
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
description
2011 nî lūn-bûn
@nan
2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
@ast
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
@en
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
@nl
type
label
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
@ast
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
@en
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
@nl
prefLabel
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
@ast
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
@en
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
@nl
P2093
P2860
P1433
P1476
MFN2 mutations cause severe phenotypes in most patients with CMT2A
@en
P2093
C E Siskind
M M Reilly
S M E Feely
V S Gibbons
P2860
P304
P356
10.1212/WNL.0B013E31821A441E
P407
P50
P577
2011-04-20T00:00:00Z