Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration
Valentina Muto(Bambino Gesù Children's Hospital), Marco Tartaglia(Istituto Superiore di Sanità), Giovanna Carpentieri(Istituto Superiore di Sanità), Amir Sherafat(Bam University of Medical Sciences), Serena Cecchetti(Istituto Superiore di Sanità), Mohammadreza Dehghani(Azienda Unita' Sanitaria Locale Di Modena), Simone Martinelli(Istituto Superiore di Sanità), Maria Kousi, Serenella Servidei(Università Cattolica del Sacro Cuore), Hamid Galehdari(Shahid Chamran University of Ahvaz), Michela Di Nottia(Bambino Gesù Children's Hospital), Rosalba Carrozzo(Bambino Gesù Children's Hospital), Nicholas Katsanis(Duke University), Alireza Sedaghat(Ahvaz Jundishapur University of Medical Sciences), Guido Primiano(Azienda Unita' Sanitaria Locale Di Modena), Francesca Pantaleoni(Istituto Superiore di Sanità), Viviana Caputo(Sapienza University of Rome), Teresa Rizza(Azienda Unita' Sanitaria Locale Di Modena), Andrea Ciolfi(Bambino Gesù Children's Hospital), Yalda Jamshidi(St George's, University of London), Aaron R. Jeffries(University of Exeter), Alice Traversa(Casa Sollievo della Sofferenza), Jawaher Zeighami, Neda Mazaheri(Shahid Chamran University of Ahvaz), Reza Azizi Malamiri(Ahvaz Jundishapur University of Medical Sciences), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Gholamreza Shariati(Ahvaz Jundishapur University of Medical Sciences), Mohammad Yahya Vahidi Mehrjardi(Shahid Sadoughi University of Medical Sciences and Health Services), Elisabetta Flex(Istituto Superiore di Sanità), Zachary A Kupchinsky(Duke Medical Center), Daniela Di Giuda(Azienda Unita' Sanitaria Locale Di Modena)
Cited by 52
Related Papers
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
|Nature Genetics|2007|702
MELAS: Clinical features, biochemistry, and molecular genetics
|Annals of Neurology|1992|508
PINK1 mutations are associated with sporadic early‐onset parkinsonism
|Annals of Neurology|2004|498
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene ( <i>LIPC</i> )
|Proceedings of the National Academy of Sciences|2010|450