P. Byrne
University College Dublin(IE)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Neurological diseases and metabolism, Epigenetics and DNA Methylation, Endoplasmic Reticulum Stress and Disease, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome(2008)213 cited
- → REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31(2008)180 cited
- → SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q(2001)76 cited
- → Dementia in SPG4 hereditary spastic paraplegia(2009)61 cited
- → The hereditary spastic paraplegia protein spartin localises to mitochondria(2006)57 cited
- → Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein(2006)54 cited
- → Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p(2000)53 cited
- → Further evidence of dementia in SPG4 -linked autosomal dominant hereditary spastic paraplegia(2004)51 cited
- → Phenotype of AD-HSP due to mutations in the SPAST gene(2000)43 cited
- → Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance(1998)33 cited