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Acta Neuropathologica Communications|September 13, 2014
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samplesMarco Savarese, Giuseppina Di Fruscio, Margherita Mutarelli, et al.Frontiers in Cellular Neuroscience|January 4, 2021
Electrophysiological Profile Remodeling <i>via</i> Selective Suppression of Voltage-Gated Currents by <i>CLN1</i>/PPT1 Overexpression in Human Neuronal-Like CellsGian Carlo Demontis, Francesco Pezzini, Elisa Margari, et al.Frontiers in Neuroscience|June 24, 2024
Proteomics and lipidomic analysis reveal dysregulated pathways associated with loss of sacsinDaniele Galatolo, Silvia Rocchiccioli, Nicoletta Di Giorgi, et al.Journal of the Peripheral Nervous System : JPNS|May 14, 2021
Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFHFrancesco Aruta, Daniele Severi, Aniello Iovino, et al.International Journal of Molecular Sciences|August 12, 2023
A Variant in <i>TBCD</i> Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case ReportMaria Caputo, Ilaria Martinelli, Nicola Fini, et al.Neuromuscular Disorders : NMD|May 24, 2016
TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvementGuja Astrea, Ilaria Pezzini, Ester Picillo, et al.Medical Hypotheses|June 14, 2011
Is the ataxia of Charlevoix-Saguenay a developmental disease?José Gazulla, Ana Carmen Vela, Miguel Angel Marín, et al.Neuropediatrics|January 24, 2023
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH DeficiencyCarolina Croci, Matteo Cataldi, Serena Baratto, et al.International Journal of Molecular Sciences|September 2, 2020
Tumor Suppressor Role of hsa-miR-193a-3p and -5p in Cutaneous MelanomaBeatrice Polini, Sara Carpi, Stefano Doccini, et al.Frontiers in Neurology|February 15, 2021
Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic TechnologyFederica Morani, Stefano Doccini, Giovanna Chiorino, et al.Pageof 20