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A Case of Juvenile Onset Neuronal Intranuclear Inclusion Disease With a Negative Antemortem Skin Biopsy.
Published in:
Pediatric & Developmental Pathology, 2018, v. 21, n. 5, p. 494, doi. 10.1177/1093526617724293
By:
- Pilson, Keith;
- Farrell, Michael;
- Lynch, Bryan;
- Devaney, Deirdre
Publication type:
Article
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 1, p. e12, doi. 10.1111/epi.13250
By:
- Allen, Nicholas M.;
- Conroy, Judith;
- Shahwan, Amre;
- Lynch, Bryan;
- Correa, Raony G.;
- Pena, Sergio D. J.;
- McCreary, Dara;
- Magalhães, Tiago R.;
- Ennis, Sean;
- Lynch, Sally A.;
- King, Mary D.
Publication type:
Article
The variable phenotypes of KCNQ-related epilepsy.
Published in:
Epilepsia (Series 4), 2014, v. 55, n. 9, p. e99, doi. 10.1111/epi.12715
By:
- Allen, Nicholas M.;
- Mannion, Maria;
- Conroy, Judith;
- Lynch, Sally A.;
- Shahwan, Amre;
- Lynch, Bryan;
- King, Mary D.
Publication type:
Article
Neurological involvement in children with hemolytic uremic syndrome.
Published in:
European Journal of Pediatrics, 2022, v. 181, n. 2, p. 501, doi. 10.1007/s00431-021-04200-1
By:
- Costigan, Caoimhe;
- Raftery, Tara;
- Carroll, Anne G.;
- Wildes, Dermot;
- Reynolds, Claire;
- Cunney, Robert;
- Dolan, Niamh;
- Drew, Richard J.;
- Lynch, Bryan J.;
- O'Rourke, Declan J.;
- Stack, Maria;
- Sweeney, Clodagh;
- Shahwan, Amre;
- Twomey, Eilish;
- Waldron, Mary;
- Riordan, Michael;
- Awan, Atif;
- Gorman, Kathleen M.
Publication type:
Article
Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms-A further patient.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1863, doi. 10.1002/ajmg.a.36532
By:
- Allen, Nicholas M.;
- Conroy, Judith;
- Shahwan, Amre;
- Ennis, Sean;
- Lynch, Bryan;
- Lynch, Sally A.;
- King, Mary D.
Publication type:
Article
Device Thrombogenicity Emulation: A Novel Method for Optimizing Mechanical Circulatory Support Device Thromboresistance.
Published in:
PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032463
By:
- Girdhar, Gaurav;
- Xenos, Michalis;
- Alemu, Yared;
- Chiu, Wei-Che;
- Lynch, Bryan E.;
- Jesty, Jolyon;
- Einav, Shmuel;
- Slepian, Marvin J.;
- Bluestein, Danny
Publication type:
Article
Does early treatment improve outcomes in N-methyl-D-aspartate receptor encephalitis?
Published in:
Developmental Medicine & Child Neurology, 2014, v. 56, n. 8, p. 794, doi. 10.1111/dmcn.12411
By:
- Byrne, Susan;
- McCoy, Blathanid;
- Lynch, Bryan;
- Webb, David;
- King, Mary D
Publication type:
Article
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.
Published in:
Developmental Medicine & Child Neurology, 2014, v. 56, n. 7, p. 642, doi. 10.1111/dmcn.12323
By:
- Peall, Kathryn J;
- Lumsden, Daniel;
- Kneen, Rachel;
- Madhu, Rajesh;
- Peake, Deirdre;
- Gibbon, Frances;
- Lewis, Hilary;
- Hedderly, Tammy;
- Meyer, Esther;
- Robb, Stephanie A;
- Lynch, Bryan;
- King, Mary D;
- Lin, Jean‐Pierre;
- Morris, Huw R;
- Jungbluth, Heinz;
- Kurian, Manju A
Publication type:
Article
The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.
Published in:
Developmental Medicine & Child Neurology, 2013, v. 55, n. 2, p. 154, doi. 10.1111/dmcn.12030
By:
- BRUNKLAUS, ANDREAS;
- DORRIS, LIAM;
- ELLIS, RACHAEL;
- REAVEY, ELEANOR;
- LEE, ELIZABETH;
- FORBES, GORDON;
- APPLETON, RICHARD;
- CROSS, J HELEN;
- FERRIE, COLIN;
- HUGHES, IMELDA;
- JOLLANDS, ALICE;
- KING, MARY D;
- LIVINGSTON, JOHN;
- LYNCH, BRYAN;
- PHILIP, SUNNY;
- SCHEFFER, INGRID E;
- WILLIAMS, RUTH;
- ZUBERI, SAMEER M
Publication type:
Article
Therapeutic plasma exchange in paediatric nephrology in Ireland.
Published in:
Irish Journal of Medical Science, 2024, v. 193, n. 3, p. 1589, doi. 10.1007/s11845-023-03560-x
By:
- Wildes, Dermot M.;
- Devlin, Conor;
- Costigan, Caoimhe Suzanne;
- Raftery, Tara;
- Hensey, Conor;
- Waldron, Mary;
- Dolan, Niamh;
- Riordan, Michael;
- Sweeney, Clodagh;
- Stack, Maria;
- Cotter, Melanie;
- Lynch, Bryan;
- Gorman, Kathleen Mary;
- Awan, Atif
Publication type:
Article
Moyamoya disease and moyamoya syndrome in Ireland: patient demographics, mode of presentation and outcomes of EC-IC bypass surgery.
Published in:
Irish Journal of Medical Science, 2021, v. 190, n. 1, p. 335, doi. 10.1007/s11845-020-02280-w
By:
- Doherty, Ronan J.;
- Caird, John;
- Crimmins, Darach;
- Kelly, Peter;
- Murphy, Sean;
- McGuigan, Christopher;
- Tubridy, Niall;
- King, Mary D.;
- Lynch, Bryan;
- Webb, David;
- O'Neill, Desmond;
- McCabe, Dominick J. H.;
- Boers, Peter;
- O'Regan, Mary;
- Moroney, Joan;
- Williams, David J.;
- Cronin, Simon;
- Javadpour, Mohsen
Publication type:
Article
Catheter‐based system for the treatment of left ventricular assist device thrombosis.
Published in:
Artificial Organs, 2022, v. 46, n. 4, p. 705, doi. 10.1111/aor.14184
By:
- Joyce, David L.;
- Lynch, Bryan E.;
- Freed, Julie;
- Kreuziger, Lisa Baumann;
- Salinger, Michael H.;
- Joyce, Lyle D.
Publication type:
Article
SGCE mutations cause psychiatric disorders: clinical and genetic characterization.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 294, doi. 10.1093/brain/aws308
By:
- Peall, Kathryn J.;
- Smith, Daniel J.;
- Kurian, Manju A.;
- Wardle, Mark;
- Waite, Adrian J.;
- Hedderly, Tammy;
- Lin, Jean-Pierre;
- Smith, Martin;
- Whone, Alan;
- Pall, Hardev;
- White, Cathy;
- Lux, Andrew;
- Jardine, Philip;
- Bajaj, Narinder;
- Lynch, Bryan;
- Kirov, George;
- O’Riordan, Sean;
- Samuel, Michael;
- Lynch, Timothy;
- King, Mary D.
Publication type:
Article
Clinical features, investigations, and outcomes of pediatric limbic encephalitis: A multicenter study.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 1, p. 67, doi. 10.1002/acn3.51494
By:
- Sabanathan, Saraswathy;
- Abdel‐Mannan, Omar;
- Mankad, Kshitij;
- Siddiqui, Ata;
- Das, Krishna;
- Carr, Lucinda;
- Eltze, Christin;
- Eyre, Michael;
- Gadian, Jon;
- Hemingway, Cheryl;
- Kaliakatsos, Marios;
- Kneen, Rachel;
- Krishnakumar, Deepa;
- Lynch, Bryan;
- Parida, Amitav;
- Rossor, Thomas;
- Taylor, Micheal;
- Wassmer, Evangeline;
- Wright, Sukhvir;
- Lim, Ming
Publication type:
Article
Megalencephalic leukoencephalopathy with cysts without MLC1 defect.
Published in:
Annals of Neurology, 2010, v. 67, n. 6, p. 834, doi. 10.1002/ana.21980
By:
- van der Knaap, Marjo S.;
- Lai, Vincent;
- Köhler, Wolfgang;
- Salih, Mustafa A.;
- Fonseca, Maria-José;
- Benke, Tim A.;
- Wilson, Callum;
- Jayakar, Parul;
- Aine, Marjo-riitta;
- Dom, Lina;
- Lynch, Bryan;
- Kálmánchey, Rozalia;
- Pietsch, Peter;
- Errami, Ab;
- Scheper, Gert C.
Publication type:
Article
Response to treatment and outcomes of infantile spasms in Down syndrome.
Published in:
Developmental Medicine & Child Neurology, 2022, v. 64, n. 6, p. 780, doi. 10.1111/dmcn.15153
By:
- Harvey, Susan;
- Allen, Nicholas M.;
- King, Mary D.;
- Lynch, Bryan;
- Lynch, Sally A.;
- O'Regan, Mary;
- O'Rourke, Declan;
- Shahwan, Amre;
- Webb, David;
- Gorman, Kathleen M.;
- Aziz, J;
- El Hassan, M;
- Flynn, K;
- Hanrahan, D;
- Kehoe, C;
- Leahy, C;
- Lynch, N;
- McHugh, JC;
- McSweeney, N;
- O'Mahony, E
Publication type:
Article
A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca signal patterns.
Published in:
Journal of Neurology, 2017, v. 264, n. 7, p. 1444, doi. 10.1007/s00415-017-8545-5
By:
- Casey, Jillian;
- Hirouchi, Taisei;
- Hisatsune, Chihiro;
- Lynch, Bryan;
- Murphy, Raymond;
- Dunne, Aimee;
- Miyamoto, Akitoshi;
- Ennis, Sean;
- Van Der Spek, Nick;
- O'hici, Bronagh;
- Mikoshiba, Katsuhiko;
- Lynch, Sally
Publication type:
Article
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
Published in:
Journal of Neurology, 2014, v. 261, n. 12, p. 2296, doi. 10.1007/s00415-014-7488-3
By:
- Peall, Kathryn;
- Kurian, Manju;
- Wardle, Mark;
- Waite, Adrian;
- Hedderly, Tammy;
- Lin, Jean-Pierre;
- Smith, Martin;
- Whone, Alan;
- Pall, Hardev;
- White, Cathy;
- Lux, Andrew;
- Jardine, Philip;
- Lynch, Bryan;
- Kirov, George;
- O'Riordan, Sean;
- Samuel, Michael;
- Lynch, Timothy;
- King, Mary;
- Chinnery, Patrick;
- Warner, Thomas
Publication type:
Article
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 639, doi. 10.1002/jimd.12337
By:
- O'Reilly, Daniel;
- Crushell, Ellen;
- Hughes, Joanne;
- Ryan, Stephanie;
- Rogers, Yvonne;
- Borovickova, Ingrid;
- Mayne, Philip;
- Riordan, Michael;
- Awan, Atif;
- Carson, Kevin;
- Hunter, Kim;
- Lynch, Bryan;
- Shahwan, Amre;
- Rüfenacht, Véronique;
- Häberle, Johannes;
- Treacy, Eileen P.;
- Monavari, Ahmad A.;
- Knerr, Ina
Publication type:
Article
Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.
Published in:
Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab235
By:
- Gorman, Kathleen M.;
- Peters, Colin H.;
- Lynch, Bryan;
- Jones, Laura;
- Bassett, Dani S.;
- King, Mary D.;
- Ruben, Peter C.;
- Rosch, Richard E.
Publication type:
Article
Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient.
Published in:
Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 320, doi. 10.1002/mgg3.144
By:
- Greer, Kane;
- Mizzi, Kayla;
- Rice, Emily;
- Kuster, Lukas;
- Barrero, Roberto A.;
- Bellgard, Matthew I.;
- Lynch, Bryan J.;
- Foley, Aileen Reghan;
- O Rathallaigh, Eoin;
- Wilton, Steve D.;
- Fletcher, Sue
Publication type:
Article
Everolimus precision therapy for the GATOR1‐related epilepsies: A case series.
Published in:
European Journal of Neurology, 2023, v. 30, n. 10, p. 3341, doi. 10.1111/ene.15975
By:
- Moloney, Patrick B.;
- Kearney, Hugh;
- Benson, Katherine A.;
- Costello, Daniel J.;
- Cavalleri, Gianpiero L.;
- Gorman, Kathleen M.;
- Lynch, Bryan J.;
- Delanty, Norman
Publication type:
Article
Clinical Relapses of Atypical HUS on Eculizumab: Clinical Gap for Monitoring and Individualised Therapy.
Published in:
2018
By:
- Teoh, Chia Wei;
- Gorman, Kathleen Mary;
- Lynch, Bryan;
- Goodship, Timothy H. J.;
- Dolan, Niamh Marie;
- Waldron, Mary;
- Riordan, Michael;
- Awan, Atif
Publication type:
Case Study
Sleep disorders in boys with Duchenne muscular dystrophy.
Published in:
Acta Paediatrica, 2012, v. 101, n. 12, p. 1265, doi. 10.1111/apa.12025
By:
- Bloetzer, Clemens;
- Jeannet, Pierre-Yves;
- Lynch, Bryan;
- Newman, Christopher J.
Publication type:
Article
Proceedings of the 13th annual clinical meeting of the irish perinatal society, held in drogheda in march 1985.
Published in:
Irish Journal of Medical Science, 1986, v. 155, n. 6, p. 209, doi. 10.1007/BF02939846
By:
- Stuart, Bernard;
- Fox, Declan;
- Murphy, Harry;
- Lynch, Bryan;
- Loftus, J.;
- Naughten, E.;
- Saul, I.;
- Sheil, O.;
- Duignan, N.;
- Jackson, A.;
- Gorman, W.;
- Fox, G.;
- Matthews, T.;
- Clarke, T.;
- Reid, Mark;
- Halliday, H.;
- McClure, B.;
- Thomas, P.;
- O'Dowd, Michael;
- Connolly, Kevin
Publication type:
Article
Disturbed Neuronal ER-Golgi Sorting of Unassembled Glycine Receptors Suggests Altered Subcellular Processing Is a Cause of Human Hyperekplexia.
Published in:
Journal of Neuroscience, 2015, v. 35, n. 1, p. 422, doi. 10.1523/JNEUROSCI.1509-14.2015
By:
- Schaefer, Natascha;
- Kluck, Christoph J.;
- Price, Kerry L.;
- Meiselbach, Heike;
- Vornberger, Nadine;
- Schwarzinger, Stephan;
- Hartmann, Stephanie;
- Langlhofer, Georg;
- Schulz, Solveig;
- Schlegel, Nadja;
- Brockmann, Knut;
- Lynch, Bryan;
- Becker, Cord-Michael;
- Lummis, Sarah C. R.;
- Villmann, Carmen
Publication type:
Article

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