Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency 由 Mohamed O. E. Babiker, Manju A. Kurian, Manju A. Kurian, Jehan Suleiman, Jehan Suleiman

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Histone lysine methyltransferase-related neurodevelopmental disorders: current knowledge and saRNA future therapies 由 Charlotte Roth, Helena Kilpinen, Helena Kilpinen, Manju A. Kurian, Manju A. Kurian, Serena Barral

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Benign Hereditary Chorea: An Update 由 Kathryn J. Peall, Manju A. Kurian

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Electrophysiological Properties of Human Cortical Organoids: Current State of the Art and Future Directions 由 Clara Zourray, Clara Zourray, Clara Zourray, Manju A. Kurian, Manju A. Kurian, Serena Barral, Gabriele Lignani

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Genome Editing in iPSC-Based Neural Systems: From Disease Models to Future Therapeutic Strategies 由 Amy McTague, Amy McTague, Giada Rossignoli, Arianna Ferrini, Serena Barral, Manju A. Kurian, Manju A. Kurian

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Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches 由 Joanne Ng, Serena Barral, Simon N. Waddington, Manju A. Kurian

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Automated high-content imaging in iPSC-derived neuronal progenitors 由 Apostolos Papandreou, Christin Luft, Serena Barral, Janos Kriston-Vizi, Manju A Kurian, Robin Ketteler

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Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene 由 Hakan Cangül, Ozlem Ozdemir, Tahsin Yakut, Mehmet Okan, Neil V Morgan, Birol Baytan, Manju A Kurian, Ronald Spiegel, Eamonn R Maher

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<em>TBC1D24</em> Mutations in a Sibship with Multifocal Polymyoclonus 由 Adeline Ngoh, Jose Bras, Rita Guerreiro, Amy McTague, Joanne Ng, Esther Meyer, W. Kling Chong, Stewart Boyd, Linda MacLellan, Martin Kirkpatrick, Manju A. Kurian

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Loss-of-Function Variants in <i>DRD1</i> in Infantile Parkinsonism-Dystonia 由 Kimberley M. Reid, Dora Steel, Sanjana Nair, Sanjay Bhate, Lorenzo Biassoni, Sniya Sudhakar, Michelle Heys, Elizabeth Burke, Erik-Jan Kamsteeg, Genomics England Research Consortium, Biju Hameed, Michael Zech, Niccolo E. Mencacci, Katy Barwick, Maya Topf, Manju A. Kurian

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A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing 由 Bianca R. Grosz, Stephen Tisch, Michel C. Tchan, Victor S. C. Fung, Paul Darveniza, Avi Fellner, Manju A. Kurian, Alison McLean, Susan E. Tomlinson, Renee Smyth, Sophie Devery, Kathy H. C. Wu, Marina L. Kennerson, Kishore R. Kumar

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Perinatal systemic gene delivery using adeno-associated viral vectors 由 Rajvinder eKarda, Suzanne M K Buckley, Citra N Mattar, Joanne eNg, Giulia eMassaro, Michael eHughes, Manju A Kurian, Julien eBaruteau, Paul eGissen, Jerry K Y Chan, Chiara eBacchelli, Simon N Waddington, Simon N Waddington, Ahad A Rahim

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Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia 由 Jenny I Aguilar, Mary Hongying Cheng, Josep Font, Alexandra C Schwartz, Kaitlyn Ledwitch, Amanda Duran, Samuel J Mabry, Andrea N Belovich, Yanqi Zhu, Angela M Carter, Lei Shi, Manju A Kurian, Cristina Fenollar-Ferrer, Jens Meiler, Renae Monique Ryan, Hassane S Mchaourab, Ivet Bahar, Heinrich JG Matthies, Aurelio Galli

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Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN) 由 Allison Gregory, Mitesh Lotia, Suh Young Jeong, Rachel Fox, Dolly Zhen, Lynn Sanford, Jeff Hamada, Amir Jahic, Christian Beetz, Alison Freed, Manju A. Kurian, Thomas Cullup, Marlous C. M. van derWeijden, Vy Nguyen, Naly Setthavongsack, Daphne Garcia, Victoria Krajbich, Thao Pham, Randy Woltjer, Benjamin P. George, Kelly Q. Minks, Alexander R. Paciorkowski, Penelope Hogarth, Joseph Jankovic, Susan J. Hayflick

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Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease 由 Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary‐Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B. Kamarus Jaman, Manju A. Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza‐Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia, Karin B. Tylleskär, Damien Brackman, Saskia B. Wortmann, Jenny C. Taylor, Laurence A. Bindoff, Vineta Fellman, Shamima Rahman

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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies 由 Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)

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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines 由 Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Angeles García-Cazorla, Thomas Opladen

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Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies 由 Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)

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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia 由 Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y. Hung, Michael A. Simpson, W. K. Chong, Thomas S. Jacques, Randy L. Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R. Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila A. M. Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline A. Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson

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