ITALIA

• Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A
• Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts.
• Neuropathic pain in Charcot-Marie-Tooth disease: A clinical and laser-evoked potential study.
• Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.
• Mitofusin 2: The missing link between mtDNA maintenance defects and neurotransmitter disorders.
• Frequency, entity and determinants of fatigue in Charcot-Marie-Tooth disease.
• Expanding the Spectrum of Genes Responsible for Hereditary Motor Neuropathies
• Finding a new balance to cure Charcot-Marie-Tooth 2A.
• Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art.
• Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations.
• A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.
• Highlighting the endoplasmic reticulum-mitochondria connection: Focus on Mitofusin 2.
• Mitofusin 2: from functions to disease.
• Recruitment of mitofusin 2 into “lipid rafts” drives mitochondria fusion induced by Mdivi-1.
• Newly Discovered MFN2 Gene Mutation Linked to Severe Form of CMT Type 2A, Study Reports
• Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance.
• Superimposed inflammatory neuropathy in patients affected by Charcot-Marie-Tooth neuropathy
• Testing overwork weakness in Charcot-Marie-Tooth (CMT) disease: is it true or false?
• Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.
• Charcot-Marie-Tooth neuropathy misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy
• Quantifying gait impairment in individuals affected by Charcot-Marie-Tooth disease: the usefulness of gait profile score and gait variable score.
• Sport activity in Charcot–Marie–Tooth disease: A case study of a Paralympic swimmer
• Pseudomyopathic course in a patient with charcot-marie-tooth disease: report of a novel MFN2 mutation
• Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: clinical, neurophysiological and genetic finding from a single centre experience
• Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.
• Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.
• Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability
• Malattie genetiche della forma dei mitocondri: approcci integrati per comprenderne la patogenesi e definirne strategie terapeutiche. Studio in corso.
• Mitochondrial dynamics and inherited peripheral nerve diseases.
• Acute optic neuropathy associated with a novel MFN2 mutation.
• MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.
• Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations.
• Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.
• The influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot-Marie-Tooth disease.
• Mitochondrial dynamics and inherited peripheral nerve diseases.
• Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2 (CMT2A)
• Mitochondrial fusion proteins and human diseases
• Mitochondria and melanosomes establish physical contacts modulated by Mfn2 and involved in organelle biogenesis.
• The role of rab proteins in neuronal cells and in the trafficking of neurotrophin receptors.
• Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
• Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
• Dominant Charcot-Marie-Tooth syndrome and cognate disorders
• Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.
• Developmental defects and neuromuscular alterations due to mitofusin 2 gene (MFN2) silencing in zebrafish: a new model for Charcot-Marie-Tooth type 2A neuropathy.
• Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene.
• Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation.
• Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.
• The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.
• A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.
• An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient.
• Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
• A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy

FRANCIA

• Clinical Phenotype in an Early-Onset French Pediatric Population: Charcot–Marie–Tooth‘s Disease Type 2A.
• In vivo real-time dynamics of ATP and ROS production in axonal mitochondria show decoupling in mouse models of peripheral neuropathies.
• Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.

• Mitofusin gain and loss of function drive pathogenesis in Drosophila models of CMT2A neuropathy.

• Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.

• Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features

• The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy ‘plus’ phenotype.

• Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function

• A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations

• Mitochondria and peripheral neuropathies

• Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations

• Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation.

• [Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations].
  
• Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

• Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations.
  
• Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease.

GRAN BRETAGNA

• Enhancing folic acid metabolism suppresses defects associated with loss of Drosophila mitofusin.

• Severe cognitive impairment in a patient with CMT2A.

• Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

• MFN2 deletion of exons 7 and 8: founder mutation in the UK population.

• Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

• A pilot study of proximal strength training in Charcot-Marie-Tooth disease.

• Interventions for fatigue in peripheral neuropathy.

• Axonal Transport Defects in a Mitofusin 2 Loss of Function Model of Charcot-Marie-Tooth Disease in Zebrafish

• Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

SPAGNA

• Genetic epidemiology, demographic and clinical characteristics of Charcot-Marie-Tooth disease in the island of Gran Canaria (Spain).

• Mitofusin 2 as a driver that controls energy metabolism and insulin signaling.

• Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction.

• Mitofusin 2 as a driver that controls energy metabolism and insulin signaling.

• [Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].

• Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene.

• Phenotypic spectrum of MFN2 mutations in the Spanish population

• Regulation of mitofusin-2 expression in skeletal muscle

• Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.

BELGIO

• Development of Improved HDAC6 Inhibitors as Pharmacological Therapy for Axonal Charcot-Marie-Tooth Disease

• HDAC6 Inhibitors: Translating Genetic and Molecular Insights Into a Therapy for Axonal CMT

• Genetic spectrum of hereditary neuropathies with onset in the first year of life.
• MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

GERMANIA

• Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

• Mitofusin 2 is required to maintain mitochondrial coenzyme Q levels.

• Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion

• Insights on altered mitochondrial function and dynamics in the pathogenesis of neurodegeneration

• Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population

• Late onset autosomal dominant Charcot-Marie-Tooth 2 neuropathy in a Costa Rican family.

• Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.
  
• Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

• Mitofusin 2 builds a bridge between ER and mitochondria

• Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A).

ISLANDA

• Prevalence of symptomatic Charcot-Marie-Tooth disease in Iceland: a study of a well-defined population.

SVEZIA

• Exploratory study of physical activity in persons with Charcot-Marie-Tooth disease

• Adaptation by alternative RNA splicing of slow troponin T isoforms in type 1 but not type 2 Charcot-Marie-Tooth disease.

• Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.
• Charcot-Marie-Tooth disease in northern Sweden: an epidemiological and clinical study

SVIZZERA

• Mfn2 is critical for brown adipose tissue thermogenic function.
• Less than perfect divorces: dysregulated mitochondrial fission and neurodegeneration.

• An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle

• Expression of mitofusin 2R94Q in a transgenic mouse leads to Charcot–Marie–Tooth neuropathy type 2A

• Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A.

SERBIA

• Epidemiology of Charcot-Marie-Tooth disease in the population of Belgrade, Serbia.

AUSTRIA

• SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.

NORVEGIA

• Genetic epidemiology of Charcot-Marie-Tooth disease.

• MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

• Genetic epidemiology of Charcot-Marie-Tooth in the general population.

• Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies

CIPRO

• Aberrant Mitochondrial Dynamics and Exacerbated Response to Neuroinflammation in a Novel Mouse Model of CMT2A.
• Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.

POLONIA

• Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity.

• The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.

• Mitofusin 2 expression dominates over mitofusin 1 exclusively in mouse dorsal root ganglia – a possible explanation for peripheral nervous system involvement in Charcot-Marie-Tooth 2A.

• 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.

• [Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease].

TURCHIA

• Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).

USA

• Tetrahydroquinoline-Capped Histone Deacetylase 6 Inhibitor SW-101 Ameliorates Pathological Phenotypes in a Charcot-Marie-Tooth Type 2A Mouse Model.
• HDAC6 inhibition promotes α-tubulin acetylation and ameliorates CMT2A peripheral neuropathy in mice.
• Validation of the Italian version of the pediatric CMT quality of life outcome measure.
• A SARM1-mitochondrial feedback loop drives neuropathogenesis in a Charcot-Marie-Tooth disease type 2A rat model.
• Charcot-Marie-Tooth Disease Associated With a Novel Mutation in MFN2 Presenting With Subacute Vision Loss.
• Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review.
• MFN2 Deficiency Impairs Mitochondrial Transport and Downregulates Motor Protein Expression in Human Spinal Motor Neurons.
• Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation.
• Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation.
• Mitochondrial Dysfunction and Pharmacodynamics of Mitofusin Activation in Murine Charcot-Marie-Tooth Disease Type 2A.
• Mitochondria Clumping vs. Mitochondria Fusion in CMT2A Diseases
• Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities.
• Mitofusin activation enhances mitochondrial motility and promotes neuroregeneration in CMT2A.
• Regional anesthesia in patients with Charcot-Marie-Tooth disease: a historical cohort study of 53 patients.
• Optic Neuropathy in Charcot-Marie-Tooth Disease.
• SARM1/mitochondrial feedback loop drives neuropathogenesis in a Charcot-Marie-Tooth disease type 2A rat model
• The Audiologic Profile of Patients With Charcot-Marie Tooth Neuropathy Can Be Characterised by Both Cochlear and Neural Deficits
• Identification of a mitofusin specificity region that confers unique activities to Mfn1 and Mfn2.
• Charcot-Marie-Tooth: From Molecules to Therapy.
• A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.
• MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics
• Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model.
• Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp)
• Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2
• Characterization of Charcot-Marie-Tooth optic neuropathy.
• A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.
• Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A.
• Mitofusin 2 Regulates Axonal Transport of Calpastatin to Prevent Neuromuscular Synaptic Elimination in Skeletal Muscles.
• MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A
• Natural history of Charcot-Marie-Tooth disease during childhood.
• Mice Hemizygous for a Pathogenic Mitofusin-2 Allele Exhibit Hind Limb/Foot Gait Deficits and Phenotypic Perturbations in Nerve and Muscle.
• Correcting mitochondrial fusion by manipulating mitofusin conformations
• CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.
• Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.
• Prospective study of muscle cramps in Charcot-Marie-Tooth disease
• Update on Charcot-Marie-Tooth disease.
• Proximal nerve magnetization transfer MRI relates to disability in Charcot-Marie-Tooth diseases.
• The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
• Charcot-Marie-Tooth Neuropathy Type 2A
• TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.
• Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.
• MFN2 mutations cause severe phenotypes in most patients with CMT2A.
• Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.
• A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy.
• Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria.
• Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults.
• Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A.
• Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.
• Experimental therapeutics in hereditary neuropathies: the past, the present, and the future.
• Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations.
• Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.
• MITOFUSIN 2; MFN2
• Researchers Studying CMT1B, CMT2A, CMT4A, CMT4C, Others
• CONCERNING THE IMMUNITIES OF TOLERANCE: A PRELIMINARY COMMUNICATION.
  
• Charcot-Marie-Tooth Neuropathy Type 2A.

BRASILE

• Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
• Sleep pattern in Charcot-Marie-Tooth disease type 2: report of family case series.
• Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2.

MESSICO

• [Diagnosis of the peripheral hereditary neuropathies and its molecular genetics].

KOREA

• A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.

• Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement.

• A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A.

• Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement.

• Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.

• Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

• Charcot-Marie-Tooth Disease: Seventeen Causative Genes

• Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.
  

RUSSIA

• [MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic].

• A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

• Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients

CINA

• Mitochondrial Dysfunction and Pharmacodynamics of Mitofusin Activation in Murine Charcot-Marie-Tooth Disease Type 2A.
• Metabolic and biophysical study of the MFN2Ile213Thr mutant causing Hereditary Motor and Sensory Neuropathy (HMSN).
• The Pathological Features of Common Hereditary Mitochondrial Dynamics Neuropathy.
• The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort.
• Generation of Induced Pluripotent Stem Cell Line, ZJUCHi002-A, From Charcot-Marie-Tooth Disease Type 2A (CMT2A) Patient With a Mutation of c.752C>T in MFN2
• Corrigendum to ‘Generation of Induced Pluripotent Stem Cell Line (ZZUi0012-a) From a Patient With Fahr’s Disease Caused by a Novel Mutation in SLC20A2 Gene’ [Stem Cell Research Volume 35, March 2019, 101,395]
• Structural Insights of Human mitofusin-2 Into Mitochondrial Fusion and CMT2A Onset
• Genetic Spectrum and Clinical Profiles in a Southeast Chinese Cohort of Charcot-Marie-Tooth Disease
• A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2.
• Late-onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of MFN2-related diseases.
• Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot-Marie-Tooth type 2A.
• Missense mutations of mitofusin 2 in axonal Charcot–Marie–Tooth neuropathy: polymorphic or incomplete penetration?
• Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses.
• A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease
• Mitofusin-2 is a novel direct target of p53.
• Mitofusin-2 protects against cold stress-induced cell injury in HEK293 cells.
• [Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease].
  
• Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.

GIAPPONE

• An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness.
• Clinical genetics of Charcot-Marie-Tooth disease
• Multiple respiratory complications in a patient with Charcot-Marie-Tooth disease with MFN2 mutation
• Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease.
• Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
• Late-onset CMT2 associated with a novel missense mutation in the cytoplasmic domain of the MPZ gene.
• The mood stabilizer valproic acid improves defective neurite formation caused by Charcot-Marie-Tooth disease-associated mutant Rab7 through the JNK signaling pathway
• Mitofusin 2 inhibits mitochondrial antiviral signaling.
• Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A

TAIWAN

• The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

AUSTRALIA

• Structure, function, and regulation of mitofusin-2 in health and disease.
• Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.

CANADA

• The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology.
• CMT2A Study Links Genetic Variants to Disease Severity

 FINLANDIA

• Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study.

• Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

• Novel mitofusin 2 splice-site mutation causes Charcot-Marie-Tooth disease type 2 with prominent sensory dysfunction.

• Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.

• [MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic].

• Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

• Charcot-Marie-Tooth disease in northern Finland.

MAROCCO

• [Review of the recent literature on hereditary neuropathies].

ALGERIA

• Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update

GRECIA

• Modeling protein misfolding in charcot-marie-tooth disease.

IRLANDA

• A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland.

ARABIA SUDITA

• Novel MFN2 Missense Mutation Induces Hereditary Axonal Motor and Sensory Neuropathy in a Saudi Arabian Family.

• Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases.

• Mitochondrial Dynamics and Proteins Related to Neurodegenerative Diseases.

UNGHERIA

• Activation of mitochondrial fusion provides a new treatment for mitochondria-related diseases.

UCRAINA

• Stem Cell Therapy Enhances Motor Activity of Triceps Surae Muscle in Mice with Hereditary Peripheral Neuropathy.

PACHISTAN

• Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approach.
• Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.
• Activation of mitochondrial fusion provides a new treatment for mitochondria-related diseases.

GIORDANIA

• Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 gene.

VIETNAM

• Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease.

MALI-SUDAFRICA

• Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.

INDIA

• Isolated Asymmetric Progressive Optic Neuropathy as a First Presentation of Charcot-Marie-Tooth Disease Type 2A.
• CMT2A-linked mitochondrial hyperfusion-driving mutant MFN2 perturbs ER-mitochondrial associations and Ca2+ homeostasis