Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Niamh McSweeney"'
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 12-20 (2021)
Abstract A 4‐year‐old girl was referred for reassessment of dyskinetic cerebral palsy. Initial investigations in her country of birth, India, had not yielded a diagnosis. MRI brain in infancy revealed bilateral putamen hyperintensity. She had gen
Externí odkaz:
https://doaj.org/article/c69c947dda504ec285b0e7d24fe948cc
Autor:
Niamh McSweeney, Brian McNamara, Geraldine B Boylan, Michael Moore, Carol M Stephens, Andreea M Pavel, Sean R Mathieson
Publikováno v:
HRB Open Research, Vol 5 (2022)
Pallister Killian Syndrome (PKS) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. The syndrome is characterised by typical craniofacial dysmorphism, congenital anomalies and intellectual disability. Epilepsy
Externí odkaz:
https://doaj.org/article/8212cb06d1e849b08d3655d9f86485d2
Autor:
Niamh McSweeney, Brian McNamara, Geraldine B Boylan, Carol M Stephens, Andreea M Pavel, Brian H Walsh, Sean R Mathieson
Publikováno v:
HRB Open Research, Vol 4 (2021)
Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessive neuro-metabolic disorder caused by a mutation in the sulfite oxidase (SUOX) gene situated on chromosome 12. Due to the deficiency of this mitochondrial enzyme (sulfite oxidase),
Externí odkaz:
https://doaj.org/article/11c5afef0d7740339ed10c5dec8e71ba
Publikováno v:
Stroke.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a62eafd7ef8a108d0b57b9db0ca0cfd
https://doi.org/10.1161/strokeaha.122.041369
https://doi.org/10.1161/strokeaha.122.041369
Autor:
T’ng Chang Kwok, Robert A. Dineen, William Whitehouse, Richard M. Lynn, Niamh McSweeney, Don Sharkey
Publikováno v:
Open medicine (Warsaw, Poland). 17(1)
Neonatal stroke is a devastating condition that causes brain injury in babies and often leads to lifelong neurological impairment. Recent prospective population studies of neonatal stroke are lacking. Neonatal strokes are different from those in olde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1bf3f7e8b944efafd8c55d4cf60e076
https://pubmed.ncbi.nlm.nih.gov/36128449
https://pubmed.ncbi.nlm.nih.gov/36128449
Autor:
T’ng Chang Kwok, Robert A Dineen, William Whitehouse, Richard M Lynn, Niamh McSweeney, Don Sharkey
BackgroundNeonatal stroke is a devastating condition that causes brain injury in babies and often leads to lifelong neurological impairment. Recent, prospective whole population studies of neonatal stroke are lacking. Neonatal strokes are different f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::22573e726adda1032290564a02e6bbb9
https://doi.org/10.1101/2022.04.01.22273284
https://doi.org/10.1101/2022.04.01.22273284
Autor:
Farah Abu Dhais, Vicki Livingstone, Niamh McSweeney, Deirdre M. Murray, Brian McNamara, Geraldine B. Boylan, Olivia O'Mahony
Publikováno v:
Developmental Medicine & Child Neurology. 62:62-68
To establish the incidence of infantile spasms in children in the southern region of the Republic of Ireland and to compare the incidence of infantile spasms before and after the introduction of therapeutic hypothermia in infants with hypoxic-ischemi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76788c6ffc2efb92d628dcd8398006b7
https://doi.org/10.1111/dmcn.14331
https://doi.org/10.1111/dmcn.14331
Autor:
Carol M Stephens, Andreea M Pavel, Sean R Mathieson, Niamh McSweeney, Brian McNamara, Michael Moore, Geraldine B Boylan
Publikováno v:
HRB Open Research. 5:14
Pallister Killian Syndrome (PKS) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. The syndrome is characterised by typical craniofacial dysmorphism, congenital anomalies and intellectual disability. Epilepsy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eafbcf06535be85a7fd4892f2c6e55ca
https://doi.org/10.12688/hrbopenres.13493.1
https://doi.org/10.12688/hrbopenres.13493.1
Autor:
Carol Stephens, Zoe Coghlan, Louise Gibson, Niamh McSweeney, Olivia O'Mahony, Mary Jane O'Leary
Publikováno v:
BMJ Supportive & Palliative Care. :bmjspcare-2021
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::895b66ccad0011316e039b7b2a2b5085
https://doi.org/10.1136/bmjspcare-2021-003486
https://doi.org/10.1136/bmjspcare-2021-003486
Autor:
Carol M Stephens, Brian McNamara, Niamh McSweeney, Sean Mathieson, Geraldine B. Boylan, Brian H. Walsh, Andreea M Pavel
Publikováno v:
HRB Open Research
Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessive neuro-metabolic disorder caused by a mutation in the sulfite oxidase (SUOX) gene situated on chromosome 12. Due to the deficiency of this mitochondrial enzyme (sulfite oxidase),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eda7fe573b6c29769b2fa16106852916
https://doi.org/10.12688/hrbopenres.13442.1
https://doi.org/10.12688/hrbopenres.13442.1