Charcot‐Marie‐Tooth disease: frequency of genetic subtypes in a Southern Italy population

Fiore Manganelli, Stefano Tozza, Chiara Pisciotta, +7

Journal of the Peripheral Nervous System

Genetic SubtypesGeneticsGenetic EpidemiologyPathologyCmt Cases +17

HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients

Simona Capponi, Alessandro Geroldi, Paola Fossa, +6

Journal of the Peripheral Nervous System

Hspb8 Exons 1GeneticsPathologyNeurochemical BiomarkersDisease Gene Identification +14

Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1

Simona Capponi, Thomas Geuens, Alessandro Geroldi, +12

Human Mutation

Neurodegenerative DiseasesMolecular ChaperonesAmyotrophic Lateral SclerosisCandidate Gene Hspb1Hspb1 Mutations +12

Expanding the spectrum of genes responsible for hereditary motor neuropathies

Stefano C. Previtali, Edward Zhao, Dejan Lazarević, +27

Journal of Neurology Neurosurgery & Psychiatry

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies

Paola Mandich, Paola Fossa, Simona Capponi, +7

European Journal of Human Genetics

Systems BiologyNeurological DisorderClinical FeaturesNeurologyNeuroscience +6

TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149

Daniela Palmieri, Simona Capponi, Alessandro Geroldi, +3

Biochemical and Biophysical Research Communications

InflammationEndothelial Cell PathobiologyTranscriptional RegulationAngiogenesisMolecular Physiology +9

A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)

Davide Pareyson, Tanya Stojkovic, Mary M. Reilly, +39

Annals of Neurology

Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype

Ilaria Callegari, Chiara Gemelli, Alessandro Geroldi, +8

Journal of Neurology

Neurodegenerative DiseasesNeurological DisorderMedicineGeneticsGenetic Disorder +7

Severe Neuropathy After Diphtheria-Tetanus-Pertussis Vaccination in a Child Carrying a Novel Frame-Shift Mutation in the Small Heat-Shock Protein 27 Gene

Paola Mandich, Marina Grandis, Alessandra Varese, +10

Journal of Child Neurology

GeneticsImmunologyDiphtheria-tetanus-pertussis VaccinationPathologyNovel Frame-shift Mutation +17

Role of <b><i>MAPT</i></b> in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients

Paola Origone, Alessandro Geroldi, Merit Lamp, +9

Neurodegenerative Diseases