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Hemimegalencephaly with Bannayan‐Riley‐Ruvalcaba syndrome
Hemimegalencephaly with Bannayan‐Riley‐Ruvalcaba syndrome
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Hemimegalencephaly with Bannayan‐Riley‐Ruvalcaba syndrome

Ghusayni, Ryan ; Sachdev, Monisha ; Gallentine, William ; Mikati, Mohamad A ; McDonald, Marie T

Epileptic disorders, 2018-02, Vol.20 (1), p.30-34 [Periódico revisado por pares]

France: Wiley Subscription Services, Inc

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2
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

Esmaeeli 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, Inc

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3
Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature
Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature
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Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature

Abdelnour, 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 Ltd

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4
Epileptic encephalopathy with features of rapid‐onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation
Epileptic encephalopathy with features of rapid‐onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation
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Epileptic encephalopathy with features of rapid‐onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation

Tran, 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, Inc

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5
Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations
Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations
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Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations

Moya-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 Inc

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6
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
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Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Schwarz, 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, Yvonne

Neurology, 2022-05, Vol.98 (20), p.e2046-e2059 [Periódico revisado por pares]

United States: Lippincott Williams & Wilkins

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7
Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation
Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation
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Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation

Gururangan, Sridharan ; Frankel, Wendy ; Broaddus, Russell ; Clendenning, Mark ; Senter, Leigha ; McDonald, Marie ; Eastwood, James ; Reardon, David ; Vredenburgh, James ; Quinn, Jennifer ; Friedman, Henry S

Neuro-oncology (Charlottesville, Va.), 2008-02, Vol.10 (1), p.93-97 [Periódico revisado por pares]

England: Duke University Press

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8
Emotional Regulation Impairments Following Severe Traumatic Brain Injury: An Investigation of the Body and Facial Feedback Effects
Emotional Regulation Impairments Following Severe Traumatic Brain Injury: An Investigation of the Body and Facial Feedback Effects
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Emotional Regulation Impairments Following Severe Traumatic Brain Injury: An Investigation of the Body and Facial Feedback Effects

Dethier, Marie ; Blairy, Sylvie ; Rosenberg, Hannah ; McDonald, Skye

Journal of the International Neuropsychological Society, 2013-04, Vol.19 (4), p.367-379 [Periódico revisado por pares]

New York, USA: Cambridge University Press

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9
Spontaneous and posed emotional facial expressions following severe traumatic brain injury
Spontaneous and posed emotional facial expressions following severe traumatic brain injury
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Spontaneous and posed emotional facial expressions following severe traumatic brain injury

Dethier, Marie ; Blairy, Sylvie ; Rosenberg, Hannah ; McDonald, Skye

Journal of clinical and experimental neuropsychology, 2012-01, Vol.34 (9), p.936-947 [Periódico revisado por pares]

Hove: Taylor & Francis Group

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10
Recognition of disgust is selectively preserved in Alzheimer's disease
Recognition of disgust is selectively preserved in Alzheimer's disease
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Recognition of disgust is selectively preserved in Alzheimer's disease

Henry, 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 Ltd

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