A
Andrea Haworth
Publications - 2
Citations - 12
Andrea Haworth is an academic researcher. The author has contributed to research in topics: Dysarthria & Global developmental delay. The author has an hindex of 1, co-authored 2 publications receiving 8 citations.
Papers
More filters
Journal ArticleDOI
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.
Gholson J. Lyon,Elaine Marchi,Joseph Ekstein,Vardiella Meiner,Yoel Hirsch,Sholem Y. Scher,Edward Yang,Darryl C. De Vivo,Ricardo Madrid,Quan Li,Kai Wang,Andrea Haworth,Ilana Chilton,Wendy K. Chung,Milen Velinov +14 more
TL;DR: Whole-exome sequencing was used to identify the genetic etiology of a rapidly progressing neurological disease present in two of six siblings with early childhood onset of severe progressive spastic paraparesis and learning disabilities, and a homozygous mutation was found in VAC14.
Journal ArticleDOI
Early-onset cerebellar ataxia in a patient with CMT2A2.
Ricardo Madrid,Sara R. Guariglia,Andrea Haworth,William Korosh,Maureen Gavin,Gholson J. Lyon +5 more
TL;DR: It is reported here that early onset ataxia with intellectual disability can also be associated with MFN2-related Charcot–Marie–Tooth, Type 2A2A diagnosis, the most common type of autosomal dominant axonal neuropathy.