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1.

Increased rates of invasive bacterial disease in late 2022.

Kyne, Sarah; Ní Shíocháin, Doireann; McDonnell, Caoimhe; Byrne, Aisling; Sutton-Fitzpatrick, Una; Crowley, Niamh; Nertney, Leona; Myers, Conor; Waldron, John; Ahmed, Aneeq; Wrynne, Caragh; Fennell, Jerome; Fitzpatrick, Patrick; Fitzsimons, John J; Scanlan, Barry; Vaughan, David; Gorman, Kathleen M; Cunney, Robert; Smyth, Anna E; Hourihane, Jonathan O'B.

Eur J Pediatr; 183(1): 323-334, 2024 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-37882822

2.

Transitional care models in adolescent kidney transplant recipients-a systematic review.

Wildes, Dermot Michael; Costigan, Caoimhe S; Kinlough, Mairead; Flynn, Joan; Dolan, Niamh; Riordan, Michael; Sweeney, Clodagh; Stack, Maria; Waldron, Mary; Walsh, Orla; Gorman, Kathleen M; Awan, Atif.

Nephrol Dial Transplant; 38(1): 49-55, 2023 Jan 23.

Artículo en Inglés | MEDLINE | ID: mdl-35554567

3.

Everolimus precision therapy for the GATOR1-related epilepsies: A case series.

Moloney, Patrick B; Kearney, Hugh; Benson, Katherine A; Costello, Daniel J; Cavalleri, Gianpiero L; Gorman, Kathleen M; Lynch, Bryan J; Delanty, Norman.

Eur J Neurol; 30(10): 3341-3346, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-37422919

4.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman, Kathleen M; Meyer, Esther; Grozeva, Detelina; Spinelli, Egidio; McTague, Amy; Sanchis-Juan, Alba; Carss, Keren J; Bryant, Emily; Reich, Adi; Schneider, Amy L; Pressler, Ronit M; Simpson, Michael A; Debelle, Geoff D; Wassmer, Evangeline; Morton, Jenny; Sieciechowicz, Diana; Jan-Kamsteeg, Eric; Paciorkowski, Alex R; King, Mary D; Cross, J Helen; Poduri, Annapurna; Mefford, Heather C; Scheffer, Ingrid E; Haack, Tobias B; McCullagh, Gary; Millichap, John J; Carvill, Gemma L; Clayton-Smith, Jill; Maher, Eamonn R; Raymond, F Lucy; Kurian, Manju A.

Am J Hum Genet; 104(5): 948-956, 2019 05 02.

Artículo en Inglés | MEDLINE | ID: mdl-30982612

5.

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.

Reid, Kimberley M; Spaull, Robert; Salian, Smrithi; Barwick, Katy; Meyer, Esther; Zhen, Juan; Hirata, Hiromi; Sheipouri, Diba; Benkerroum, Hind; Gorman, Kathleen M; Papandreou, Apostolos; Simpson, Michael A; Hirano, Yoshinobu; Farabella, Irene; Topf, Maya; Grozeva, Detelina; Carss, Keren; Smith, Martin; Pall, Hardev; Lunt, Peter; De Gressi, Susanna; Kamsteeg, Erik-Jan; Haack, Tobias B; Carr, Lucinda; Guerreiro, Rita; Bras, Jose; Maher, Eamonn R; Scott, Richard H; Vandenberg, Robert J; Raymond, F Lucy; Chong, Wui K; Sudhakar, Sniya; Mankad, Kshitij; Reith, Maarten E; Campeau, Philippe M; Harvey, Robert J; Kurian, Manju A.

Mov Disord; 37(10): 2139-2146, 2022 10.

Artículo en Inglés | MEDLINE | ID: mdl-35876425

6.

Response to treatment and outcomes of infantile spasms in Down syndrome.

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.

Dev Med Child Neurol; 64(6): 780-788, 2022 06.

Artículo en Inglés | MEDLINE | ID: mdl-35092693

7.

Neurological involvement in children with hemolytic uremic syndrome.

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.

Eur J Pediatr; 181(2): 501-512, 2022 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-34378062

8.

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

Steel, Dora; Zech, Michael; Zhao, Chen; Barwick, Katy E S; Burke, Derek; Demailly, Diane; Kumar, Kishore R; Zorzi, Giovanna; Nardocci, Nardo; Kaiyrzhanov, Rauan; Wagner, Matias; Iuso, Arcangela; Berutti, Riccardo; Skorvánek, Matej; Necpál, Ján; Davis, Ryan; Wiethoff, Sarah; Mankad, Kshitij; Sudhakar, Sniya; Ferrini, Arianna; Sharma, Suvasini; Kamsteeg, Erik-Jan; Tijssen, Marina A; Verschuuren, Corien; van Egmond, Martje E; Flowers, Joanna M; McEntagart, Meriel; Tucci, Arianna; Coubes, Philippe; Bustos, Bernabe I; Gonzalez-Latapi, Paulina; Tisch, Stephen; Darveniza, Paul; Gorman, Kathleen M; Peall, Kathryn J; Bötzel, Kai; Koch, Jan C; Kmiec, Tomasz; Plecko, Barbara; Boesch, Sylvia; Haslinger, Bernhard; Jech, Robert; Garavaglia, Barbara; Wood, Nick; Houlden, Henry; Gissen, Paul; Lubbe, Steven J; Sue, Carolyn M; Cif, Laura; Mencacci, Niccolò E.

Ann Neurol; 88(5): 867-877, 2020 11.

Artículo en Inglés | MEDLINE | ID: mdl-32808683

9.

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.

Schneider, Amy L; Myers, Candace T; Muir, Alison M; Calvert, Sophie; Basinger, Alice; Perry, M Scott; Rodan, Lance; Helbig, Katherine L; Chambers, Chelsea; Gorman, Kathleen M; King, Mary D; Donkervoort, Sandra; Soldatos, Ariane; Bönnemann, Carsten G; Spataro, Nino; Gabau, Elisabeth; Arellano, Montserrat; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rossignol, Elsa; Hamdan, Fadi F; Michaud, Jacques L; Balak, Christopher; Mefford, Heather C; Scheffer, Ingrid E.

Epilepsia; 62(1): e13-e21, 2021 01.

Artículo en Inglés | MEDLINE | ID: mdl-33280099

10.

Fifteen-minute consultation: Approach to investigation and management of childhood dystonia.

Forman, Eva Bridget; King, Mary D; Gorman, Kathleen M.

Arch Dis Child Educ Pract Ed; 106(2): 71-77, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-32928841

11.

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.

Ng, Joanne; Cortès-Saladelafont, Elisenda; Abela, Lucia; Termsarasab, Pichet; Mankad, Kshitij; Sudhakar, Sniya; Gorman, Kathleen M; Heales, Simon J R; Pope, Simon; Biassoni, Lorenzo; Csányi, Barbara; Cain, John; Rakshi, Karl; Coutts, Helen; Jayawant, Sandeep; Jefferson, Rosalind; Hughes, Deborah; García-Cazorla, Àngels; Grozeva, Detelina; Raymond, F Lucy; Pérez-Dueñas, Belén; De Goede, Christian; Pearson, Toni S; Meyer, Esther; Kurian, Manju A.

Mov Disord; 35(8): 1357-1368, 2020 08.

Artículo en Inglés | MEDLINE | ID: mdl-32472658

12.

Epileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype.

Donnellan, Eoin P; Gorman, Kathleen M; Shahwan, Amre; Allen, Nicholas M.

Epilepsy Behav Rep; 25: 100647, 2024.

Artículo en Inglés | MEDLINE | ID: mdl-38317675

13.

Identification of Leptomeningeal Medulloblastoma with Contrast-Enhanced Magnetic Resonance Imaging: A Devastating Differential of Acute Disseminated Encephomyelitis.

McGlacken-Byrne, Sinead M; Gorman, Kathleen M; Lagan, Niamh K; Robinson, Ian; Farrell, Michael; King, Mary D.

J Paediatr Child Health; 54(8): 929-930, 2018 08.

Artículo en Inglés | MEDLINE | ID: mdl-30133899

14.

Relationship Between Electroencephalography and Seizure Outcome in Typical Absence Seizures in Children.

Harvey, Susan; Thompson, Claire; O'Flaherty, Odette; Scott, Louise; O'Malley, Siobhan; O'Rourke, Declan; Lynch, Bryan; Gorman, Kathleen M; Conroy, Emily; Shahwan, Amre.

Pediatr Neurol; 148: 56-64, 2023 11.

Artículo en Inglés | MEDLINE | ID: mdl-37666206

15.

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.

Luppe, Johannes; Sticht, Heinrich; Lecoquierre, François; Goldenberg, Alice; Gorman, Kathleen M; Molloy, Ben; Agolini, Emanuele; Novelli, Antonio; Briuglia, Silvana; Kuismin, Outi; Marcelis, Carlo; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Julia, Sophie; Lemke, Johannes R; Abou Jamra, Rami; Platzer, Konrad.

Eur J Hum Genet; 31(3): 345-352, 2023 03.

Artículo en Inglés | MEDLINE | ID: mdl-36564538

16.

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.

Happ, Hannah C; Sadleir, Lynette G; Zemel, Matthew; de Valles-Ibáñez, Guillem; Hildebrand, Michael S; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Møller, Rikke S; Fenger, Christina D; Klint Nielsen, Jens Erik; Datta, Anita N; Gorman, Kathleen M; King, Mary D; Linhares, Natalia D; Burton, Barbara K; Paras, Andrea; Ellard, Sian; Rankin, Julia; Shukla, Anju; Majethia, Purvi; Olson, Rory J; Muthusamy, Karthik; Schimmenti, Lisa A; Starnes, Keith; Sedlácková, Lucie; Sterbová, Katalin; Vlcková, Markéta; Lassuthová, Petra; Jahodová, Alena; Porter, Brenda E; Couque, Nathalie; Colin, Estelle; Prouteau, Clément; Collet, Corinne; Smol, Thomas; Caumes, Roseline; Vansenne, Fleur; Bisulli, Francesca; Licchetta, Laura; Person, Richard; Torti, Erin; McWalter, Kirsty; Webster, Richard; Gerard, Elizabeth E.

Neurology; 100(6): e603-e615, 2023 02 07.

Artículo en Inglés | MEDLINE | ID: mdl-36307226

17.

Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype.

Gorman, Kathleen M; Forman, Eva; Conroy, Judith; Allen, Nicholas M; Shahwan, Amre; Lynch, Sally A; Ennis, Sean; King, Mary D.

Epilepsia; 58(7): 1301-1302, 2017 07.

Artículo en Inglés | MEDLINE | ID: mdl-28677859

18.

Footloose: Spinal Myoclonus after Myelomeningocele Repair.

Gorman, Kathleen M; King, Mary D.

J Pediatr; 173: 261-261.e1, 2016 06.

Artículo en Inglés | MEDLINE | ID: mdl-26968832

19.

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.

Gorman, Kathleen M; Lynch, Sally A; Schneider, Adele; Grange, Dorothy K; Williamson, Kathleen A; FitzPatrick, David R; King, Mary D.

Am J Med Genet A; 170(11): 3048-3050, 2016 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-27427475

20.

Managing the risks of on-site health centers.

Gorman, Kathleen M; Miller, Ross M.

AAOHN J; 59(11): 483-90, 2011 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-22017191

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