ITALIA

• 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