Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

Yuejuan Qin, Li Yao, Elizabeth E. King, +14

Nature Genetics

Genetic DisorderMedicineGeneticsPathogenesisPathology +4

Spectrum and Prevalence of <i>FP/TMEM127</i> Gene Mutations in Pheochromocytomas and Paragangliomas

Li Yao, Francesca Schiavi, Alberto Cascón, +31

JAMA

A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype

Gianluca Occhi, Daniela Regazzo, Giampaolo Trivellin, +13

PLoS Genetics

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

Francesca Giusti, Luisella Cianferotti, Francesca Boaretto, +24

Endocrine

Type 1Data AnalysisEndocrine OncologyEndocrine DiseaseMedicine +9

Loss-of-function mutations in the<i>SIGMAR1</i>gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca²⁺signalling

Elisa Gregianin, Giorgia Pallafacchina, Sofia Zanin, +16

Human Molecular Genetics

A New Locus for Autosomal Recessive Spastic Paraplegia Associated with Mental Retardation and Distal Motor Neuropathy, SPG14, Maps to Chromosome 3q27-q28

Giovanni Vazza, M. Zortea, Francesca Boaretto, +3

The American Journal of Human Genetics

Down SyndromeDistal Motor NeuropathyMendelian DisorderNeurological DisorderMedicine +9

Familial mesial temporal lobe epilepsy (FMTLE)

Pasquale Striano, Antonio Gambardella, Antonietta Coppola, +17

Journal of Neurology

Neuropsychological FunctioningNeuropsychologyNeurological DisorderNeuropsychiatryNeurology +6

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel

Francesca Boaretto, Deborah Snijders, Cecilia Salvoro, +9

Journal of Molecular Diagnostics

DiagnosisPathologyNeurologyNeuropathologyMedicine +1

Von Hippel-Lindau disease: an evaluation of natural history and functional disability

Alberto Feletti, Mariagiulia Anglani, Bruno Scarpa, +10

Neuro-Oncology

Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26

Giovanni Vazza, Cinzia Bertolin, E. Scudellaro, +7

Molecular Psychiatry

PsychiatryPsychotic DisorderGeneticsPsychiatric GeneticsSchizophrenia +6