Výsledky vyhledávání - "Paula C. Byrne"

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

Autor: Malgorzata Milewska, Paula C. Byrne

Publikováno v: Cell Biology International. 39:1007-1015

Hereditary spastic paraplegia describes a diverse group of neurodegenerative conditions characterised by progressive spasticity and weakness of the lower limbs. Mutations in the SPG20 gene encoding spartin cause an autosomal recessive hereditary spas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ed834cb2ff4eb18e21824ed3f56183ca
https://doi.org/10.1002/cbin.10472

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Health locus of control and attributions of cause and blame in adjustment to spinal cord injury

Autor: Ciarán Benson, Paula C. Byrne, Barbara Dooley, A. O'Connell, B. Waldron, Teresa Burke

Publikováno v: Spinal Cord. 48:598-602

The Symptom Checklist 90 Revised (SCL-90-R) was used to assign participants to either a good adjustment group or a poor adjustment group. Group differences were analyzed with chi (2), t-tests and correlations on factors shown in previous research to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a373274db840013112905930ef3d02dd
https://doi.org/10.1038/sc.2009.182

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

Autor: Paula C. Byrne, Malgorzata Milewska, James P. McRedmond

Publikováno v: Journal of Neurochemistry. 111:1022-1030

Hereditary spastic paraplegia describes a group of neurodegenerative diseases characterized by lower limb progressive weakness and spasticity. Troyer syndrome is an autosomal recessive form of hereditary spastic paraplegia caused by a frameshift muta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd90e7f2a5ddfa2d894ef054e2f7b339
https://doi.org/10.1111/j.1471-4159.2009.06382.x

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

Autor: P. McMonagle, K Kinsella, Sinéad M. Murphy, Christian Beetz, Michael Hutchinson, Michael Farrell, M. Dytko, Paula C. Byrne, Grainne S. Gorman

Publikováno v: Neurology. 73:378-384

Background: Cognitive impairment and dementia has been reported in autosomal dominant hereditary spastic paraparesis (HSP) linked to the SPG4 locus. There has only been one postmortem examination described; not all accept that progressive cognitive d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4767888521de59b57eece0f391b37974
https://doi.org/10.1212/wnl.0b013e3181b04c6c

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The hereditary spastic paraplegia protein spartin localises to mitochondria

Autor: Jian-Ping Lu, Faiza Rashid, Paula C. Byrne

Publikováno v: Journal of Neurochemistry. 98:1908-1919

Hereditary spastic paraplegia describes a diverse group of disorders characterized by progressive paraparesis primarily affecting lower limbs. In Troyer syndrome, an autosomal recessive form of hereditary spastic paraplegia, patients have dysarthria,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ef21b1cfc283d230a8fb737fdff23bed
https://doi.org/10.1111/j.1471-4159.2006.04008.x

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

Autor: P. McMonagle, Paula C. Byrne, Michael Hutchinson

Publikováno v: Neurology. 62:407-410

Objective: To investigate the progression of cognitive impairment and its behavioral aspects in patients with SPG4-linked autosomal dominant hereditary spastic paraplegia (SPG4-ADHSP). Methods: Sixteen patients, 45 years or older, from five families

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a5558b635946ea74b68dd1aedfd97a2
https://doi.org/10.1212/01.wnl.0000108629.04434.05

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

Autor: C. A. Hughes, Victor Patterson, Stewart Webb, Michael Hutchinson, P. McMonagle, Paula C. Byrne, Nollaig A. Parfrey

Publikováno v: Neurology. 56:1230-1233

The authors studied two families with autosomal recessive hereditary spastic paraplegia (HSP) complicated by the presence of additional symptoms of pigmented maculopathy, distal amyotrophy, dysarthria, mental retardation, and further intellectual det

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac156b7375d6611333effa7a01508326
https://doi.org/10.1212/wnl.56.9.1230

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The genetic organization and protein crystallographic structure of human serine hydroxymethyltransferase

Autor: Ulrich Baumann, Peter G. Sanders, Karen J. Chave, Suzanne B. Renwick, Suzanna K. Whitehouse, Paula C. Byrne, Keith Snell

Publikováno v: Advances in Enzyme Regulation. 40:353-403

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c15c541abc53a8c640be6f00d72a7b5
https://doi.org/10.1016/s0065-2571(99)00035-7

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Autor: Nollaig A. Parfrey, Paula C. Byrne, Stewart Webb, Michael Hutchinson, P. Mc Monagle, B. Fitzgerald

Publikováno v: Neurology. 54:1510-1517

Objectives: To investigate whether cognitive decline is part of the phenotype of SPG4-linked hereditary spastic paraparesis (HSP) and to determine whether cognitive changes are present in haplotype carriers before the onset of paraparesis. Background

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::06b3b8f00606f7f63b2a13179b2bc9ec
https://doi.org/10.1212/wnl.54.7.1510

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