@article {8344,
	title = {Giant Cerebellar Lesion in a Patient With Purulent Ear Drainage.},
	journal = {JAMA Otolaryngol Head Neck Surg},
	volume = {142},
	year = {2016},
	month = {2016 Jun 1},
	pages = {603-4},
	issn = {2168-619X},
	doi = {10.1001/jamaoto.2016.0014},
	author = {Mandal{\`a}, Marco and Muzzi, Enrico and Trabalzini, Franco}
}
@article {8094,
	title = {PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss.},
	journal = {Sci Rep},
	volume = {5},
	year = {2015},
	month = {2015},
	pages = {18568},
	abstract = {<p>Hereditary Hearing Loss (HHL) is an extremely heterogeneous disorder. Approximately 30 out of 80 known HHL genes are associated with autosomal dominant forms. Here, we identified PSIP1/LEDGF (isoform p75) as a novel strong candidate gene involved in dominant HHL. Using exome sequencing we found a frameshift deletion (c.1554_1555del leading to p.E518Dfs*2) in an Italian pedigree affected by sensorineural mild-to-moderate HHL but also showing a variable eye phenotype (i.e. uveitis, optic neuropathy). This deletion led to a premature stop codon (p.T519X) with truncation of the last 12 amino acids. PSIP1 was recently described as a transcriptional co-activator regulated by miR-135b in vestibular hair cells of the mouse inner ear as well as a possible protector against photoreceptor degeneration. Here, we demonstrate that it is ubiquitously expressed in the mouse inner ear. The PSIP1 mutation is associated with a peculiar audiometric slope toward the high frequencies. These findings indicate that PSIP1 likely plays an important role in HHL.</p>},
	issn = {2045-2322},
	doi = {10.1038/srep18568},
	author = {Girotto, Giorgia and Scheffer, Deborah I and Morgan, Anna and Vozzi, Diego and Rubinato, Elisa and Di Stazio, Mariateresa and Muzzi, Enrico and Pensiero, Stefano and Giersch, Anne B and Corey, David P and Gasparini, Paolo}
}
