This heterogeneity makes many gene-specific types of NSHL exceedingly rare. We sought to define the spectrum of autosomal recessive HHL in Iran by investigating both common and rarely diagnosed ...

Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of neurodegenerative disorders affecting primarily the cerebellum and/or its afferent tracts, often accompanied by damage of ...

Studies were excluded if they (1) were identified to be unrelated to DCM, (2) described in vitro functional studies, (3) included pediatric, syndromic, X-linked, mitochondrial, or autosomal recessive ...

1 Department of Pathology, Brigham and Women’s Hospital, Boston, Massachusetts, USA 2 Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA 3 Harvard Medical School, ...

It is reported that almost 80% of NSHL cases involve autosomal-recessive inheritance with high genetic heterogeneity ... Most families with ARNSHL have small-sized pedigrees with an affected sib pair, ...