Arama Sonuçları - Wiethoff, Sarah

Revising a diagnosis of functional neurological disorder—a case report Yazar: Berry, Alex J, Wiethoff, Sarah

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Neural Conversion and Patterning of Human Pluripotent Stem Cells: A Developmental Perspective Yazar: Zirra, Alexandra, Wiethoff, Sarah, Patani, Rickie

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Improving cardiometabolic screening on an inpatient psychiatric ward: a quality improvement project Yazar: Howarth, Harrison, Pass, Jonathan, Ahmed, Fahel, Wiethoff, Sarah

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Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes Yazar: Wiethoff, Sarah, Zhour, Ahmad, Schöls, Ludger, Fischer, Manuel Dominik

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Emerging potential mechanisms and predispositions to the neurological manifestations of COVID-19 Yazar: Jesuthasan, Aaron, Massey, Flavia, Manji, Hadi, Zandi, Michael S., Wiethoff, Sarah

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Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations Yazar: Wiethoff, Sarah, Hersheson, Joshua, Bettencourt, Conceicao, Wood, Nicholas W., Houlden, Henry

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The voices of seduction: cross-gender effects in processing of erotic prosody Yazar: Ethofer, Thomas, Wiethoff, Sarah, Anders, Silke, Kreifelts, Benjamin, Grodd, Wolfgang, Wildgruber, Dirk

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Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders Yazar: Bourinaris, Thomas, Athanasiou, Alkyoni, Efthymiou, Stephanie, Wiethoff, Sarah, Salpietro, Vincenzo, Houlden, Henry

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Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late‐Onset Craniocervical Dystonia: An Illustrative Case Series‎ Yazar: Brugger, Florian, Kägi, Georg, Pandolfo, Massimo, Mencacci, Niccolò E., Batla, Amit, Wiethoff, Sarah, Bhatia, Kailash P.

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Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and Tics Yazar: Balint, Bettina, Wiethoff, Sarah, Martino, Davide, del Gamba, Claudia, Latorre, Anna, Ganos, Christos, Houlden, Henry, Bhatia, Kailash P.

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Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset Yazar: Wiethoff, Sarah, O’Connor, Emer, Haridy, Nourelhoda A, Nethisinghe, Suran, Wood, Nicholas, Giunti, Paola, Bettencourt, Conceição, Houlden, Henry

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Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene Yazar: Wiethoff, Sarah, Bettencourt, Conceição, Paudel, Reema, Madon, Prochi, Liu, Yo-Tsen, Hersheson, Joshua, Wadia, Noshir, Desai, Joy, Houlden, Henry

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Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis Yazar: Wiethoff, Sarah, Xiromerisiou, Georgia, Bettencourt, Conceição, Kioumi, Anna, Tsiptsios, Iakovos, Tychalas, Athanasios, Evaggelia, Markousi, George, Kaltsounis, Makris, Vasileios, Hardy, John, Houlden, Henry

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ADCY5 mutations are another cause of benign hereditary chorea Yazar: Mencacci, Niccolo E., Erro, Roberto, Wiethoff, Sarah, Hersheson, Joshua, Ryten, Mina, Balint, Bettina, Ganos, Christos, Stamelou, Maria, Quinn, Niall, Houlden, Henry, Wood, Nicholas W., Bhatia, Kailash P.

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iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease Yazar: Arber, Charles, Angelova, Plamena R., Wiethoff, Sarah, Tsuchiya, Yugo, Mazzacuva, Francesca, Preza, Elisavet, Bhatia, Kailash P., Mills, Kevin, Gout, Ivan, Abramov, Andrey Y., Hardy, John, Duce, James A., Houlden, Henry, Wray, Selina

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Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy Yazar: Rattay, Tim W., Rautenberg, Maren, Söhn, Anne S., Hengel, Holger, Traschütz, Andreas, Röben, Benjamin, Hayer, Stefanie N., Schüle, Rebecca, Wiethoff, Sarah, Zeltner, Lena, Haack, Tobias B., Cegan, Alexander, Schöls, Ludger, Schleicher, Erwin, Peter, Andreas

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Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy Yazar: O’Connor, Emer, Vandrovcova, Jana, Bugiardini, Enrico, Chelban, Viorica, Manole, Andreea, Davagnanam, Indran, Wiethoff, Sarah, Pittman, Alan, Lynch, David S, Efthymiou, Stephanie, Marino, Silvia, Manzur, Adnan Y, Roberts, Mark, Hanna, Michael G, Houlden, Henry, Matthews, Emma, Wood, Nicholas W

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A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function Yazar: Salpietro, Vincenzo, Efthymiou, Stephanie, Manole, Andreea, Maurya, Bhawana, Wiethoff, Sarah, Ashokkumar, Balasubramaniem, Cutrupi, Maria Concetta, Dipasquale, Valeria, Manti, Sara, Botia, Juan A., Ryten, Mina, Vandrovcova, Jana, Bello, Oscar D., Bettencourt, Conceicao, Mankad, Kshitij, Mukherjee, Ashim, Mutsuddi, Mousumi, Houlden, Henry

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Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease Yazar: Horga, Alejandro, Laurà, Matilde, Jaunmuktane, Zane, Jerath, Nivedita U, González, Michael A, Polke, James, Poh, Roy, Blake, Julian C, Liu, Yo-Tsen, Wiethoff, Sarah, Bettencourt, Conceição, Hanna, Michael G, Houlden, Henry, Brandner, Sebastian, Züchner, Stephan, Shy, Michael E, Reilly, Mary M

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Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families Yazar: Oktay, Yavuz, Güngör, Serdal, Zeltner, Lena, Wiethoff, Sarah, Schöls, Ludger, Sonmezler, Ece, Yilmaz, Elmasnur, Munro, Benjamin, Bender, Benjamin, Kernstock, Christoph, Kaemereit, Sofie, Liepelt, Inga, Töpf, Ana, Yis, Uluc, Laurie, Steven, Yaramis, Ahmet, Zuchner, Stephan, Hiz, Semra, Lochmüller, Hanns, Schüle, Rebecca, Horvath, Rita

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