ITALY

• Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A
• A SARM1/mitochondrial feedback loop drives neuropathogenesis in a Charcot-Marie-Tooth disease type 2A rat model
• Expanding the Spectrum of Genes Responsible for Hereditary Motor Neuropathies

• 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

---

FRANCE

• 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.

 

---

GREAT BRITAIN

• 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

---

SPAIN

• 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.

---

ICELAND

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

---

SWITZERLAND

• 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.

---

SWEDEN

• Mfn2 is critical for brown adipose tissue thermogenic function.
• 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

---

BELGIUM

• 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.

---

GERMANY

• 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).

---

NORWAY

• 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

---

AUSTRIA

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

---

CYPRUS

• Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.

---

POLAND

• 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].

---

TURKEY

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

---

USA

• The Audiologic Profile of Patients With Charcot-Marie Tooth Neuropathy Can Be Characterised by Both Cochlear and Neural Deficits

• Characterization of Charcot-Marie-Tooth optic neuropathy.

• 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.

---

BRASIL

• Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2.

---

MEXICO

• [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

---

CHINA

• 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.

---

JAPAN

• 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

• http://www.ncbi.nlm.nih.gov/20865121
• CMT2A Study Links Genetic Variants to Disease Severity

---

 FINLAND

• 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.

---

GREECE

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

IRELAND

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

SAUDI ARABIA

• Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases.
• Mitochondrial Dynamics and Proteins Related to Neurodegenerative Diseases.

HUNGARY

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

PAKISTAN

• • Affected Children of Healthy Parents: Multiple Pediatric Cases of Autosomal Recessive Charcot-Marie-Tooth Disease in a Pakistani Family