Convergence between Microglia and Peripheral Macrophages Phenotype during Development and Neuroinflammation

Francesca Grassivaro, Ramesh Menon, Massimo Acquaviva, +6

Journal of Neuroscience

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

Assessment of copy number variations in 120 patients with Poland syndrome

Carlotta Maria Vaccari, Elisa Tassano, Michele Torre, +15

BMC Medical Genetics

Inferring Multiple Sclerosis Stages from the Blood Transcriptome via Machine Learning

Massimo Acquaviva, Ramesh Menon, Marco Di Dario, +7

Cell Reports Medicine

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

<scp>WES</scp> in a family trio suggests involvement of <scp>TECPR2</scp> in a complex form of progressive motor neuron disease

Angela Elvira Covone, Chiara Fiorillo, Massimo Acquaviva, +4

Clinical Genetics

Motor Control DisordersNeurological DisorderComplex FormGeneticsFamily Trio +18

Design of a multi-signature ensemble classifier predicting neuroblastoma patients' outcome

Andrea Cornero, Massimo Acquaviva, Paolo Fardin, +7

BMC Bioinformatics

Transcriptome analysis defines myocardium gene signatures in children with ToF and ASD and reveals disease-specific molecular reprogramming in response to surgery with cardiopulmonary bypass

Federica Raggi, Davide Cangelosi, Pamela Becherini, +9

Journal of Translational Medicine

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

Paola Mandich, Marina Grandis, Alessandro Geroldi, +5

Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsX-linked Charcot-marie-tooth DiseasePathology +6

Loss of Circulating CD8+ CD161high T Cells in Primary Progressive Multiple Sclerosis

Massimo Acquaviva, Claudia Bassani, Nicole Sarno, +7

Frontiers in Immunology