José M. Millán

TL;DR: In this paper, the authors proposed that mutations in the C-terminal half of whirlin have previously been reported in non-syndromic deafness (DFNB31), both alterations identified in our USH2 family affect the long protein isoform.

TL;DR: A database of 3459 patients is assembled to delineate more universal prognostic rules regarding the influence of SMN2 copy number on SMA phenotype and to establish careful genotype-phenotype correlations, predict disease evolution, and to stratify patients for clinical trials.

TL;DR: Usher syndrome is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction, and is the most common cause underlying deafness and blindness of genetic origin.

TL;DR: Limited sequence homology to stargazin, a cerebellar synapse four-transmembrane-domain protein, suggests a role for clarin-1 in hair cell and photoreceptor cell synapses, as well as a common pathophysiological pathway for different Usher syndromes.

TL;DR: Most SMA cases are due to large genetic rearrangements in the repetitive region of the SMA locus, resulting in absence-dysfunction of the SMN1 gene, by contrast, ancestrally inherited small mutations are responsible for only a small number of cases.