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Material Type: Artigo
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Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomesCARVAJAL-GONZALEZ, Alexander ; LEITE, M. Isabel ; PRESS, Raomand ; LUNN, Michael P ; MING LIM ; MADDISON, Paul ; MEINCK, H.-M ; VANDENBERGHE, Wim ; VINCENT, Angela ; WATERS, Patrick ; WOODHALL, Mark ; COUTINHO, Ester ; BALINT, Bettina ; BETHAN LANG ; PETTINGILL, Philippa ; CARR, Aisling ; SHEERIN, Una-MarieBrain (London, England : 1878), 2014-08, Vol.137 (Pt 8), p.2178-2192 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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DystoniaBalint, Bettina ; Mencacci, Niccolò E ; Valente, Enza Maria ; Pisani, Antonio ; Rothwell, John ; Jankovic, Joseph ; Vidailhet, Marie ; Bhatia, Kailash PNature reviews. Disease primers, 2018-09, Vol.4 (1), p.25, Article 25 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Expert comment to: Novel Xp21.1 deletion associated with unusual features in large McLeod syndrome kindredBalint, Bettina ; Lang, Anthony E.Parkinsonism & related disorders, 2020-10, Vol.79, p.133-134 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Movement disorders associated with neuronal antibodies: a data-driven approachSturchio, Andrea ; Dwivedi, Alok K. ; Gastaldi, Matteo ; Grimberg, Maria Barbara ; Businaro, Pietro ; Duque, Kevin R. ; Vizcarra, Joaquin A. ; Abdelghany, Elhusseini ; Balint, Bettina ; Marsili, Luca ; Espay, Alberto J.Journal of neurology, 2022-07, Vol.269 (7), p.3511-3521 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Functional neurological disorders in Parkinson diseaseWissel, Benjamin D ; Dwivedi, Alok K ; Merola, Aristide ; Chin, Danielle ; Jacob, Cara ; Duker, Andrew P ; Vaughan, Jennifer E ; Lovera, Lilia ; LaFaver, Kathrin ; Levy, Ariel ; Lang, Anthony E ; Morgante, Francesca ; Nirenberg, Melissa Jill ; Stephen, Christopher ; Sharma, Nutan ; Romagnolo, Alberto ; Lopiano, Leonardo ; Balint, Bettina ; Yu, Xin X ; Bhatia, Kailash P ; Espay, Alberto JJournal of neurology, neurosurgery and psychiatry, 2018-06, Vol.89 (6), p.566-571 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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Material Type: Artigo
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SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathyCharlesworth, Gavin ; Balint, Bettina ; Mencacci, Niccolò E. ; Carr, Lucinda ; Wood, Nicholas W. ; Bhatia, Kailash P.Movement disorders, 2016-08, Vol.31 (8), p.1249-1251 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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The Movement disorder associated with NMDAR antibody-encephalitis is complex and characteristic: an expert video-rating studyVarley, James A ; Webb, Alastair J S ; Balint, Bettina ; Fung, Victor S C ; Sethi, Kapil D ; Tijssen, Marina A J ; Lynch, Timothy ; Mohammad, Shakeeb S ; Britton, Fiona ; Evans, Matthew ; Hacohen, Yael ; Lin, Jean-Pierre ; Nardocci, Nardo ; Granata, Tiziana ; Dale, Russell C ; Lim, Ming J ; Bhatia, Kailash P ; Lang, Anthony E ; Irani, Sarosh RJournal of neurology, neurosurgery and psychiatry, 2019-06, Vol.90 (6), p.724-726 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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Material Type: Artigo
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De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal LesionsMencacci, Niccolò E. ; Kamsteeg, Erik-Jan ; Nakashima, Kosuke ; R’Bibo, Lea ; Lynch, David S. ; Balint, Bettina ; Willemsen, Michèl A.A.P. ; Adams, Matthew E. ; Wiethoff, Sarah ; Suzuki, Kazunori ; Davies, Ceri H. ; Ng, Joanne ; Meyer, Esther ; Veneziano, Liana ; Giunti, Paola ; Hughes, Deborah ; Raymond, F. Lucy ; Carecchio, Miryam ; Zorzi, Giovanna ; Nardocci, Nardo ; Barzaghi, Chiara ; Garavaglia, Barbara ; Salpietro, Vincenzo ; Hardy, John ; Pittman, Alan M. ; Houlden, Henry ; Kurian, Manju A. ; Kimura, Haruhide ; Vissers, Lisenka E.L.M. ; Wood, Nicholas W. ; Bhatia, Kailash P.American journal of human genetics, 2016-04, Vol.98 (4), p.763-771 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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9 |
Material Type: Artigo
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PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathologyNiccolini, Flavia ; Mencacci, Niccolo E. ; Yousaf, Tayyabah ; Rabiner, Eugenii A. ; Salpietro, Vincenzo ; Pagano, Gennaro ; Balint, Bettina ; Efthymiou, Stephanie ; Houlden, Henry ; Gunn, Roger N. ; Wood, Nicholas ; Bhatia, Kailash P. ; Politis, MariosMovement disorders, 2018-12, Vol.33 (12), p.1961-1965 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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10 |
Material Type: Artigo
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ADCY5 mutations are another cause of benign hereditary choreaMencacci, 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 PNeurology, 2015-07, Vol.85 (1), p.80-88 [Periódico revisado por pares]United States: American Academy of NeurologyTexto completo disponível |