P. Byrne

发表

Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p.

M Hutchinson, M. Hutchinson, T. Burke, 1998, Brain : a journal of neurology.

The hereditary spastic paraplegia protein spartin localises to mitochondria

Jianping Lu, P. Byrne, F. Rashid, 2006, Journal of neurochemistry.

Different expression levels of spartin cause broad spectrum of cellular consequences in human neuroblastoma cells

P. Byrne, Małgorzata Milewska, 2015, Cell biology international.

Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein

W. Engel, P. Byrne, A. Mannan, 2006, Neurogenetics.

The incidence of V (Rh10) and Jsa (K6) in the contemporary African American blood donor

P. Byrne, J. H. Howard, 1994, Immunohematology.

SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q

M. Hutchinson, S. Webb, P. Byrne, 2001, Neurology.

Identification of novel spartin‐interactors shows spartin is a multifunctional protein

P. Byrne, Małgorzata Milewska, J. McRedmond, 2009, Journal of neurochemistry.

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

A. Durr, M. Hutchinson, S. Hanein, 2008, American journal of human genetics.

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

J. Weissenbach, J. Burgunder, J. Prud'homme, 2000, Human molecular genetics.

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

M. Pericak-Vance, H. Smeets, S. Züchner, 2008, Brain : a journal of neurology.

Phenotype of AD-HSP due to mutations in the SPAST gene

M Hutchinson, M. Hutchinson, S. Webb, 2000, Neurology.

Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause

M. Pericak-Vance, A. Ashley-Koch, M. Hutchinson, 2007, Human mutation.

Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia

M. Hutchinson, P. Byrne, P. Mcmonagle, 2004, Neurology.

Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p

M Hutchinson, M. Hutchinson, S. Webb, 2000, Neurology.

Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance

M. Hutchinson, T. Burke, S. Webb, 1998, European Journal of Human Genetics.

Dementia in SPG4 hereditary spastic paraplegia

M. Hutchinson, P. Byrne, K. Kinsella, 2009, Neurology.

neuropathologic evidence Dementia in SPG4 hereditary spastic paraplegia: Clinical, genetic, and

M. Hutchinson, P. Byrne, K. Kinsella, 2010 .

Dementia in SPG 4 hereditary spastic paraplegia

P. Byrne, P. Mcmonagle, M. Dytko, 2009 .

Training medical students on rare disorders

P. Byrne, 2012, Orphanet Journal of Rare Diseases.

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

M. Pericak-Vance, H. Smeets, S. Züchner, 2008, Brain : a journal of neurology.

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

A. Durr, M. Hutchinson, S. Hanein, 2008, American journal of human genetics.

Dementia in SPG4 hereditary spastic paraplegia

P. Byrne, K. Kinsella, C. Beetz, 2009, Neurology.