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HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Published in:
2013
By:
- Ferdinandusse, Sacha;
- Waterham, Hans R.;
- Heales, Simon J. R.;
- Brown, Garry K.;
- Hargreaves, Iain P.;
- Taanman, Jan-Willem;
- Gunny, Roxana;
- Abulhoul, Lara;
- Wanders, Ronald J. A.;
- Clayton, Peter T.;
- Leonard, James V.;
- Rahman, Shamima
Publication type:
journal article
Skull base osteomyelitis and potential cerebrovascular complications in children.
Published in:
Pediatric Radiology, 2012, v. 42, n. 7, p. 867, doi. 10.1007/s00247-011-2340-8
By:
- Severino, Mariasavina;
- Liyanage, Sidath;
- Novelli, Vas;
- Cheesborough, Beth;
- Saunders, Dawn;
- Gunny, Roxana;
- Rossi, Andrea
Publication type:
Article
Spontaneous regression of residual low-grade cerebellar pilocytic astrocytomas in children.
Published in:
2005
By:
- Gunny, Roxana S.;
- Hayward, Richard D.;
- Phipps, Kim P.;
- Harding, Brian N.;
- Saunders, Dawn E.
Publication type:
journal article
Fourth ventricle rosette-forming glioneuronal tumour in children: an unusual presentation in an 8-year-old patient, discussion and review of the literature.
Published in:
Child's Nervous System, 2013, v. 29, n. 5, p. 839, doi. 10.1007/s00381-012-1993-4
By:
- Thurston, Benjamin;
- Gunny, Roxana;
- Anderson, Glenn;
- Paine, Simon;
- Thompson, Dominic;
- Jacques, Thomas;
- Ternier, Jessica
Publication type:
Article
Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features.
Published in:
Multiple Sclerosis Journal, 2013, v. 19, n. 1, p. 76, doi. 10.1177/1352458512445944
By:
- Absoud, Michael;
- Lim, Ming J;
- Chong, Wui K;
- De Goede, Christian G;
- Foster, Katharine;
- Gunny, Roxana;
- Hemingway, Cheryl;
- Jardine, Philip E;
- Kneen, Rachel;
- Likeman, Marcus;
- Nischal, Ken K;
- Pike, Michael G;
- Sibtain, Naomi A;
- Whitehouse, William P;
- Cummins, Carole;
- Wassmer, Evangeline
Publication type:
Article
Are children with acute arterial ischaemic stroke eligible for hyperacute thrombolysis? A retrospective audit from a tertiary UK centre.
Published in:
Developmental Medicine & Child Neurology, 2015, v. 57, n. 2, p. 181, doi. 10.1111/dmcn.12588
By:
- Marecos, Clara;
- Gunny, Roxana;
- Robinson, Robert;
- Ganesan, Vijeya
Publication type:
Article
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
Published in:
Developmental Medicine & Child Neurology, 2013, v. 55, n. 9, p. 846, doi. 10.1111/dmcn.12171
By:
- Cross, J Helen;
- Arora, Ruchi;
- Heckemann, Rolf A;
- Gunny, Roxana;
- Chong, Kling;
- Carr, Lucinda;
- Baldeweg, Torsten;
- Differ, Ann‐Marie;
- Lench, Nicholas;
- Varadkar, Sophie;
- Sirimanna, Tony;
- Wassmer, Evangeline;
- Hulton, Sally A;
- Ognjanovic, Milos;
- Ramesh, Venkateswaran;
- Feather, Sally;
- Kleta, Robert;
- Hammers, Alexander;
- Bockenhauer, Detlef
Publication type:
Article
Oxygen dependency of mitochondrial metabolism indicates outcome of newborn brain injury.
Published in:
Journal of Cerebral Blood Flow & Metabolism, 2019, v. 39, n. 10, p. 2035, doi. 10.1177/0271678X18777928
By:
- Bale, Gemma;
- Mitra, Subhabrata;
- de Roever, Isabel;
- Sokolska, Magdalena;
- Price, David;
- Bainbridge, Alan;
- Gunny, Roxana;
- Uria-Avellanal, Cristina;
- Kendall, Giles S;
- Meek, Judith;
- Robertson, Nicola J;
- Tachtsidis, Ilias
Publication type:
Article
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 536, doi. 10.1093/brain/aws338
By:
- Cushion, Thomas D.;
- Dobyns, William B.;
- Mullins, Jonathan G. L.;
- Stoodley, Neil;
- Chung, Seo-Kyung;
- Fry, Andrew E.;
- Hehr, Ute;
- Gunny, Roxana;
- Aylsworth, Arthur S.;
- Prabhakar, Prab;
- Uyanik, Gökhan;
- Rankin, Julia;
- Rees, Mark I.;
- Pilz, Daniela T.
Publication type:
Article
Magnetic resonance imaging findings in Kenyans and South Africans with active convulsive epilepsy: An observational study.
Published in:
Epilepsia (Series 4), 2024, v. 65, n. 1, p. 165, doi. 10.1111/epi.17829
By:
- Kariuki, Symon M.;
- Wagner, Ryan G.;
- Gunny, Roxana;
- D'Arco, Felice;
- Kombe, Martha;
- Ngugi, Anthony K.;
- White, Steven;
- Odhiambo, Rachael;
- Cross, J. Helen;
- Sander, Josemir W.;
- Newton, Charles R. J. C.
Publication type:
Article
MRI profiling of focal cortical dysplasia using multi‐compartment diffusion models.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 3, p. 433, doi. 10.1111/epi.16451
By:
- Lorio, Sara;
- Adler, Sophie;
- Gunny, Roxana;
- D'Arco, Felice;
- Kaden, Enrico;
- Wagstyl, Konrad;
- Jacques, Thomas S.;
- Clark, Chris A.;
- Cross, Judith Helen;
- Baldeweg, Torsten;
- Carmichael, David W.
Publication type:
Article
RARS2 mutations in a sibship with infantile spasms.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 5, p. e97, doi. 10.1111/epi.13358
By:
- Ngoh, Adeline;
- Bras, Jose;
- Guerreiro, Rita;
- Meyer, Esther;
- McTague, Amy;
- Dawson, Eleanor;
- Mankad, Kshitij;
- Gunny, Roxana;
- Clayton, Peter;
- Mills, Philippa B.;
- Thornton, Rachel;
- Lai, Ming;
- Forsyth, Robert;
- Kurian, Manju A.
Publication type:
Article
Multimodal computational neocortical anatomy in pediatric hippocampal sclerosis.
Published in:
Annals of Clinical & Translational Neurology, 2018, v. 5, n. 10, p. 1200, doi. 10.1002/acn3.634
By:
- Northam, Gemma B.;
- Adler, Sophie;
- Tisdall, Martin;
- Carmichael, David W.;
- Cross, J. Helen;
- Baldeweg, Torsten;
- Gunny, Roxana;
- Blackwood, Mallory;
- Hong, Seok‐Jun;
- Bernasconi, Andrea;
- Bernasconi, Neda;
- Bernhardt, Boris C.;
- Jacques, Thomas
Publication type:
Article
Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 577, doi. 10.1002/ajmg.a.33104
By:
- Horev, Liran;
- Lees, Melissa M.;
- Anteby, Irene;
- Gomori, John M.;
- Gunny, Roxana;
- Ben-Neriah, Ziva
Publication type:
Article

Found: 14