Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease

Marialuisa Quadri, Antonio Federico, Tianna Zhao, +16

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderParkinson DiseaseGeneticsChronic Liver Disease +6

The spectrum of<i>WRN</i>mutations in Werner syndrome patients

Shurong Huang, Lin Lee, Nancy Hanson, +31

Human Mutation

Mutations in ZBTB20 cause Primrose syndrome

Viviana Cordeddu, B. Redeker, Emilia Stellacci, +24

Nature Genetics

Genetic DisorderGeneticsInherited Metabolic DiseaseMolecular GeneticsMedicine

Prevalence and impact of COVID-19 in Parkinson’s disease: evidence from a multi-center survey in Tuscany region

Eleonora Del Prete, Alessio Francesconi, Giovanni Palermo, +17

Journal of Neurology

Parkinson DiseaseCovid-19 PandemicMulti-center SurveyPrevalenceTuscany Region +5

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Angelica D’Amore, Alessandra Tessa, Carlo Casali, +49

Frontiers in Neurology

A Rett syndrome MECP2 mutation that causes mental retardation in men

Maria Teresa Dotti, Alfredo Orrico, Nicola De Stefano, +7

Neurology

Two cases of hemichorea-hemiballism with nonketotic hyperglycemia: a new point of view

Carla Battisti, Francesca Forte, Elisa Rubenni, +5

Neurological Sciences

DiabetesHematologyNew PointNonketotic HyperglycemiaHyperglycemia +1

Schnyder corneal crystalline dystrophy: Description of a new family with evidence of abnormal lipid storage in skin fibroblasts

Carla Battisti, Maria Teresa Dotti, Alessandro Malandrini, +3

American Journal of Medical Genetics

Ocular DiseaseDermatologyNeurologyAbnormal Lipid StorageNeuropathology +15

A Novel NOTCH3 Frameshift Deletion and Mitochondrial Abnormalities in a Patient With CADASIL

Maria Teresa Dotti, Nicola De Stefano, Silvia Bianchi, +4

Archives of Neurology

Screening of ARHSP-TCC patients expands the spectrum of<i>SPG11</i>mutations and includes a large scale gene deletion

Paola S. Denora, David Schlesinger, Carlo Casali, +51

Human Mutation

ImmunodeficienciesGeneticsPathologyDisease Gene IdentificationGenomics +15