Betaine, Dimethyl Sulfoxide, and 7-Deaza-dGTP, a Powerful Mixture for Amplification of GC-Rich DNA Sequences

Marco Musso, Renata Bocciardi, Sara Parodi, +2

Journal of Molecular Diagnostics

Dimethyl SulfoxideBioorganic ChemistryBiochemistryNatural SciencesGlycobiology +9

Protein Arginine Methyltransferase 6 Enhances Polyglutamine-Expanded Androgen Receptor Function and Toxicity in Spinal and Bulbar Muscular Atrophy

Chiara Scaramuzzino, Ian Casci, Sara Parodi, +15

Neuron

Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet

Anna Rocchi, Carmelo Milioto, Sara Parodi, +18

Acta Neuropathologica

Mutation in<i>CPT1C</i>Associated With Pure Autosomal Dominant Spastic Paraplegia

Carlo Rinaldi, Thomas Schmidt, Alan J. Situ, +21

JAMA Neurology

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome

Sara Parodi, Tiziana Bachetti, Francesca Lantieri, +6

Human Mutation

Development and validation of a robotic multifactorial fall-risk predictive model: A one-year prospective study in community-dwelling older adults

Alberto Cella, Alice De Luca, Valentina Squeri, +11

PLoS ONE

Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy

María José Polanco, Sara Parodi, Diana Piol, +17

Science Translational Medicine

Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome

Tiziana Bachetti, Sara Parodi, Marco Di Duca, +3

Journal of Molecular Medicine

Developmental AnomalyLow AmountsAsymptomatic ParentsGenetic DisorderGenetics +8

Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism

Mathilde Chivet, Caterina Marchioretti, Marco Pirazzini, +15

Cells

Androgen ReceptorMuscle MetabolismNeuroendocrinologySkeletal Muscle AtrophyCellular Physiology +14

Robotic balance assessment in community-dwelling older people with different grades of impairment of physical performance

Alberto Cella, Alice De Luca, Valentina Squeri, +11

Aging Clinical and Experimental Research

Fall PreventionRehabilitation RoboticsAssistive TechnologyGeriatricsMedicine +8