Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
![]() |
Hemimegalencephaly with Bannayan‐Riley‐Ruvalcaba syndromeGhusayni, Ryan ; Sachdev, Monisha ; Gallentine, William ; Mikati, Mohamad A ; McDonald, Marie TEpileptic disorders, 2018-02, Vol.20 (1), p.30-34 [Periódico revisado por pares]France: Wiley Subscription Services, IncTexto completo disponível |
2 |
Material Type: Artigo
|
![]() |
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophyEsmaeeli Nieh, Sahar ; Madou, Maura R. Z. ; Sirajuddin, Minhajuddin ; Fregeau, Brieana ; McKnight, Dianalee ; Lexa, Katrina ; Strober, Jonathan ; Spaeth, Christine ; Hallinan, Barbara E. ; Smaoui, Nizar ; Pappas, John G. ; Burrow, Thomas A. ; McDonald, Marie T. ; Latibashvili, Mariam ; Leshinsky‐Silver, Esther ; Lev, Dorit ; Blumkin, Luba ; Vale, Ronald D. ; Barkovich, Anthony James ; Sherr, Elliott H.Annals of clinical and translational neurology, 2015-06, Vol.2 (6), p.623-635 [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
3 |
Material Type: Artigo
|
![]() |
Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literatureAbdelnour, Elie ; Gallentine, William ; McDonald, Marie ; Sachdev, Monisha ; Jiang, Yong-Hui ; Mikati, Mohamad A.Seizure (London, England), 2018-02, Vol.55, p.1-3 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
4 |
Material Type: Artigo
|
![]() |
Epileptic encephalopathy with features of rapid‐onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutationTran, Linh ; Richards, Jason ; McDonald, Marie ; McConkie‐Rosell, Allyn ; Stong, Nicholas ; Jasien, Joan ; Shashi, Vandana ; Mikati, Mohamad A.Epileptic disorders, 2020-02, Vol.22 (1), p.103-109 [Periódico revisado por pares]France: Wiley Subscription Services, IncTexto completo disponível |
5 |
Material Type: Artigo
|
![]() |
Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutationsMoya-Mendez, Mary E. ; Mueller, David M. ; Pratt, Milton ; Bonner, Melanie ; Elliott, Courtney ; Hunanyan, Arsen ; Kucera, Gary ; Bock, Cheryl ; Prange, Lyndsey ; Jasien, Joan ; Keough, Karen ; Shashi, Vandana ; McDonald, Marie ; Mikati, Mohamad A.Epilepsy & behavior, 2021-03, Vol.116, p.107732-107732, Article 107732 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
6 |
Material Type: Artigo
|
![]() |
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic VariantsSchwarz, Niklas ; Seiffert, Simone ; Pendziwiat, Manuela ; Rademacher, Annika Verena ; Brünger, Tobias ; Hedrich, Ulrike B S ; Augustijn, Paul B ; Baier, Hartmut ; Bayat, Allan ; Bisulli, Francesca ; Buono, Russell J ; Bruria, Ben Zeev ; Doyle, Michael G ; Guerrini, Renzo ; Heimer, Gali ; Iacomino, Michele ; Kearney, Hugh ; Klein, Karl Martin ; Kousiappa, Ioanna ; Kunz, Wolfram S ; Lerche, Holger ; Licchetta, Laura ; Lohmann, Ebba ; Minardi, Raffaella ; McDonald, Marie ; Montgomery, Sarah ; Mulahasanovic, Lejla ; Oegema, Renske ; Ortal, Barel ; Papacostas, Savvas S ; Ragona, Francesca ; Granata, Tiziana ; Reif, Phillip S ; Rosenow, Felix ; Rothschild, Annick ; Scudieri, Paolo ; Striano, Pasquale ; Tinuper, Paolo ; Tanteles, George A ; Vetro, Annalisa ; Zahnert, Felix ; Goldberg, Ethan M ; Zara, Federico ; Lal, Dennis ; May, Patrick ; Muhle, Hiltrud ; Helbig, Ingo ; Weber, YvonneNeurology, 2022-05, Vol.98 (20), p.e2046-e2059 [Periódico revisado por pares]United States: Lippincott Williams & WilkinsTexto completo disponível |
7 |
Material Type: Artigo
|
![]() |
Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutationGururangan, Sridharan ; Frankel, Wendy ; Broaddus, Russell ; Clendenning, Mark ; Senter, Leigha ; McDonald, Marie ; Eastwood, James ; Reardon, David ; Vredenburgh, James ; Quinn, Jennifer ; Friedman, Henry SNeuro-oncology (Charlottesville, Va.), 2008-02, Vol.10 (1), p.93-97 [Periódico revisado por pares]England: Duke University PressTexto completo disponível |
8 |
Material Type: Artigo
|
![]() |
Emotional Regulation Impairments Following Severe Traumatic Brain Injury: An Investigation of the Body and Facial Feedback EffectsDethier, Marie ; Blairy, Sylvie ; Rosenberg, Hannah ; McDonald, SkyeJournal of the International Neuropsychological Society, 2013-04, Vol.19 (4), p.367-379 [Periódico revisado por pares]New York, USA: Cambridge University PressTexto completo disponível |
9 |
Material Type: Artigo
|
![]() |
Spontaneous and posed emotional facial expressions following severe traumatic brain injuryDethier, Marie ; Blairy, Sylvie ; Rosenberg, Hannah ; McDonald, SkyeJournal of clinical and experimental neuropsychology, 2012-01, Vol.34 (9), p.936-947 [Periódico revisado por pares]Hove: Taylor & Francis GroupTexto completo disponível |
10 |
Material Type: Artigo
|
![]() |
Recognition of disgust is selectively preserved in Alzheimer's diseaseHenry, Julie D. ; Ruffman, Ted ; McDonald, Skye ; O’Leary, Marie-Andree Peek ; Phillips, Louise H. ; Brodaty, Henry ; Rendell, Peter G.Neuropsychologia, 2008-01, Vol.46 (5), p.1363-1370 [Periódico revisado por pares]Oxford: Elsevier LtdTexto completo disponível |