2 Works

Data from: Age and sex prevalence estimate of Joubert Syndrome in Italy

Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino, Roberta Battini, Enrico Bertini, Renato Borgatti, Antonella Casella, Alessia Micalizzi, Marta Nardella, Romina Romaniello, Valentina Serpieri, Ginevra Zanni, Enza Maria Valente & Nicola Vanacore
Objective: To estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology, and to provide a molecular characterization of the described patients cohort. Methods: We enrolled all patients with a neuroradiologically confirmed diagnosis of JS and resident in Italy in 2018, and calculated age and sex prevalence, assuming a Poisson distribution. We also investigated the correlation between proband chronological age and age at diagnosis, and performed Next-Generation Sequencing (NGS) analysis on...

Data from: Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

Valentina Muto, Elisabetta Flex, Zachary Kupchinsky, Guido Primiano, Hamid Galehdari, Mohammadreza Dehghani, Serena Cecchetti, Giovanna Carpentieri, Teresa Rizza, Neda Mazaheri, Alireza Sedaghat, Mohammad Yahya Vahidi Mehrjardi, Alice Traversa, Michela Di Nottia, Maria M. Kousi, Yalda Jamshidi, Andrea Ciolfi, Viviana Caputo, Reza Azizi Malamiri, Francesca Pantaleoni, Simone Martinelli, Aaron R. Jeffries, Jawaher Zeighami, Amir Sherafat, Daniela Di Giuda … & Marco Tartaglia
Objective: To characterize clinically and molecularly an early-onset, variably progressive neurodegenerative disorder characterized by a cerebellar syndrome with severe ataxia, gaze palsy, dyskinesia, dystonia, and cognitive decline affecting 11 individuals from 3 consanguineous families. Methods: We used whole-exome sequencing (WES) (families 1 and 2) and a combined approach based on homozygosity mapping and WES (family 3). We performed in vitro studies to explore the effect of the nontruncating SQSTM1 mutation on protein function and the...

Registration Year

  • 2019
    1
  • 2018
    1

Resource Types

  • Dataset
    2

Affiliations

  • Istituto Superiore di Sanità
    2
  • Bambino Gesù Children's Hospital
    2
  • Agostino Gemelli University Polyclinic
    1
  • University of Pavia
    1
  • University of Salerno
    1
  • Shahid Chamran University of Ahvaz
    1
  • Duke University School of Medicine
    1
  • Ahvaz Jundishapur University of Medical Sciences
    1
  • Sapienza University of Rome
    1
  • Kerman University of Medical Sciences
    1