Risultati della ricerca - Kruer, Michael C

The Neuropathology of Neurodegeneration with Brain Iron Accumulation di Kruer, Michael C.

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Neurodegeneration with brain iron accumulation: a diagnostic algorithm di Kruer, Michael C., Boddaert, Nathalie

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Newly Characterized Forms of Neurodegeneration with Brain Iron Accumulation di Doorn, Joshua M., Kruer, Michael C.

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Prospects for stem cell therapy in Neuronal Ceroid Lipofuscinosis di Kruer, Michael C., Pearce, David A., Orchard, Paul J., Steiner, Robert D.

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Variability in Cerebral Palsy Diagnosis di Aravamuthan, Bhooma R., Fehlings, Darcy, Shetty, Sheetal, Fahey, Michael, Gilbert, Laura, Tilton, Ann, Kruer, Michael C.

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Cataplexy in Patients Harboring the KCNMA1 p.N999S Mutation di Heim, Jennifer, Vemuri, Anusha, Lewis, Sara, Guida, Brandon, Troester, Matthew, Keros, Sotirios, Meredith, Andrea, Kruer, Michael C.

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Dystonia in ATP2B3-associated X-linked Spinocerebellar Ataxia di Feyma, Timothy, Ramsey, Keri, Huentelman, Matthew J., Craig, David W., Padilla-Lopez, Sergio, Narayanan, Vinodh, Kruer, Michael C.

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Aggressive Course in Encephalitis With Opsoclonus, Ataxia, Chorea, and Seizures: The First Pediatric Case of γ-Aminobutyric Acid Type B Receptor Autoimmunity di Kruer, Michael C., Hoeftberger, Romana, Lim, Kit Yeng, Coryell, Jason C., Svoboda, Melissa D., Woltjer, Randall L., Dalmau, Josep

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Lisdexamfetamine Therapy in Paroxysmal Non‐kinesigenic Dyskinesia Associated with the KCNMA1‐N999S Variant di Keros, Sotirios, Heim, Jennifer, Hakami, Wejdan, Zohar‐Dayan, Efrat, Ben‐Zeev, Bruria, Grinspan, Zach, Kruer, Michael C., Meredith, Andrea L.

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Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration di Kruer, Michael C., Hiken, Mark, Gregory, Allison, Malandrini, Alessandro, Clark, David, Hogarth, Penny, Grafe, Marjorie, Hayflick, Susan J., Woltjer, Randall L.

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Lessons from a pair of siblings with BPAN di Zarate, Yuri A, Jones, Julie R, Jones, Melanie A, Millan, Francisca, Juusola, Jane, Vertino-Bell, Annette, Schaefer, G Bradley, Kruer, Michael C

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Lessons from a pair of siblings with BPAN di Zarate, Yuri A, Jones, Julie R, Jones, Melanie A, Millan, Francisca, Juusola, Jane, Vertino-Bell, Annette, Schaefer, G Bradley, Kruer, Michael C

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Insights From Genetic Studies of Cerebral Palsy di Lewis, Sara A., Shetty, Sheetal, Wilson, Bryce A., Huang, Aris J., Jin, Sheng Chih, Smithers-Sheedy, Hayley, Fahey, Michael C., Kruer, Michael C.

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Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy di Bakhtiari, Somayeh, Tafakhori, Abbas, Jin, Sheng Chih, Guida, Brandon S., Alehabib, Elham, Firouzbadi, Saghar, Bilguvar, Kaya, Fahey, Michael C., Darvish, Hossein, Kruer, Michael C.

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Is Resting State Functional MRI Effective Connectivity in Movement Disorders Helpful? A Focused Review Across Lifespan and Disease di Sussman, Bethany L., Wyckoff, Sarah N., Heim, Jennifer, Wilfong, Angus A., Adelson, P. David, Kruer, Michael C., Gonzalez, Maria Jose, Boerwinkle, Varina L.

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Identification of Somatic Chromosomal Abnormalities in Hypothalamic Hamartoma Tissue at the GLI3 Locus di Craig, David W., Itty, Abraham, Panganiban, Corrie, Szelinger, Szabolcs, Kruer, Michael C., Sekar, Aswin, Reiman, David, Narayanan, Vinodh, Stephan, Dietrich A., Kerrigan, John F.

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Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts di Kruer, Michael C., Paudel, Reema, Wagoner, Wendy, Sanford, Lynn, Kara, Eleanna, Gregory, Allison, Foltynie, Tom, Lees, Andrew, Bhatia, Kailash, Hardy, John, Hayflick, Susan J., Houlden, Henry

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Variant recurrence confirms the existence of a FBXO31‐related spastic‐dystonic cerebral palsy syndrome di Dzinovic, Ivana, Škorvánek, Matej, Pavelekova, Petra, Zhao, Chen, Keren, Boris, Whalen, Sandra, Bakhtiari, Somayeh, Chih Jin, Sheng, Kruer, Michael C., Jech, Robert, Winkelmann, Juliane, Zech, Michael

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Identification of disease causing loci using an array-based genotyping approach on pooled DNA di Craig, David W, Huentelman, Matthew J, Hu-Lince, Diane, Zismann, Victoria L, Kruer, Michael C, Lee, Anne M, Puffenberger, Erik G, Pearson, John M, Stephan, Dietrich A

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C19orf12 mutation leads to Karak pallido-pyramidal syndrome di Kruer, Michael C., Salih, Mustafa A., Mooney, Catherine, Alzahrani, Jawahir, Elmalik, Salah A., Kabiraj, Mohammad M., Khan, Arif O., Paudel, Reema, Houlden, Henry, Azzedine, Hamid, Alkuraya, Fowzan

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