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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series Sarah M. Brooker MD, PhD; Maria Novelli MD; Robert Coukos PhD; Neha Prakash MBBS; Walaa A. Kamel MD; Marta Amengual-Gual MD; Mathieu Anheim MD, PhD; Giulia Barcia MD, PhD; Tanya Bardakjian MS; Franciska Baur MD; Steffen Berweck MD; Bigna K. Bölsterli MD; Melanie Brugger MD; Thomas Cassini MD; Nicolas Chatron MD; Brian Corner MS; Hormos Salimi Dafsari MD; Jean-Madeleine de Sainte Agathe MD; Colin A. Ellis MD; Kimberly M. Ezell APRN, FNP; Cendrine Foucard MD; Steven J. Frucht MD; Maria C. Garcia MBBS; Deepak Gill MBBS, FRACP; Anne Guimier MD; Rizwan Hamid MD, PhD; Damià Heine-Suñer PhD; Peter Herkenrath MD; Marie Hully MD; Ioannis U. Isaias MD, PhD; Louis Januel MD; Chloe Laurencin MD; Taylor Laut MS; Alinoe Lavillaureix MD; Gaetan Lesca MD, PhD; Marion Lesieur-Sebellin MD; Luca Magistrelli MD, PhD; Cecilia Marelli MD, PhD; Heather C. Mefford MD, PhD; Bryce A. Mendelsohn MD; Saadet Mercimek-Andrews MD, PhD; Claire Miller MD, PhD; Shekeeb S. Mohammad MBBS, PhD, FRACP; Francesca Morgante MD, PhD; Sirisha Nandipati MD; Thomas Opladen MD; Mahesh Padmanaban MD; Micaela Pauni MD; Gianni Pezzoli MD; Amelie Piton PhD; Francis Ramond MD, PhD; Giulietta M. Riboldi MD, PhD; Christelle Rougeot-Jung MD; Fernando Santos-Simarro MD, PhD; Ingrid E. Scheffer MBBS, PhD; Naoual Serari M2; Christine M. Stahl MD; Ann Stembridge Kung MS; Susana Tarongí Sanchez MD; Christel Thauvin-Robinet MD, PhD; Marianne Till MD; Christine Tranchant MD, PhD; Christopher Troedson MBBS, FRACP; Thomas F. Tropea DO, MPH; Olivier Vanakker MD, PhD; Patricia Vega MD; Maxi Leona Wiese MD; Udo Wieshmann MD, PhD, FRCP; Laura J. Williams MB BCh BAO, MD; Thomas Wirth MD; Michael Zech MD; Hans Zempel MD, PhD; Emmanuel Roze MD, PhD; Vincenzo Leuzzi MD; Serena Galosi MD, PhD; Victor S. C. Fung PhD, FRACP; Gemma Carvill PhD; Dimitri Krainc MD, PhD; Elizabeth Gerard MD; Niccolò E. Mencacci MD, PhD Share Save
CAPRIN1 Pro512Leu Variant Causes Childhood Dementia, Myoclonus-Ataxia, and Sensorimotor Neuropathy Bove, Rossella; Torella, Annalaura; Novelli, Maria; Ricciardi, Giacomina; Pollini, Luca; Masuelli, Laura; Bei, Roberto; Zanobio, Mariateresa; Pisani, Francesco; Nigro, Vincenzo; Leuzzi, Vincenzo; Galosi, Serena Share Save
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Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology Garone, Giacomo; Innocenti, Alice; Grasso, Melissa; Mandarino, Alessandra; Capuano, Alessandro; Della Bella, Gessica; Frascarelli, Flaminia; Diodato, Daria; Onesimo, Roberta; Zampino, Giuseppe; Novelli, Antonio; Digilio, Maria Cristina; Bartuli, Andrea; Dentici, Maria Lisa; Parisi, Pasquale; Galosi, Serena; Tonduti, Davide; Bertini, Enrico; Sinibaldi, Lorenzo; Specchio, Nicola Share Save
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Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome Galosi, Serena; Mancini, Cecilia; Commone, Anna; Calligari, Paolo; Caputo, Viviana; Nardecchia, Francesca; Carducci, Claudia; van den Heuvel, Lambertus P.; Pizzi, Simone; Bruselles, Alessandro; Niceta, Marcello; Martinelli, Simone; Rodenburg, Richard J.; Tartaglia, Marco; Leuzzi, Vincenzo Share Save
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum Galosi, Serena; Novelli, Maria; Di Rocco, Martina; Flex, Elisabetta; Messina, Elena; Pollini, Luca; Parrini, Elena; Pisani, Francesco; Guerrini, Renzo; Leuzzi, Vincenzo; Martinelli, Simone Share Save
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments Novelli, Maria; Galosi, Serena; Zorzi, Giovanna; Martinelli, Simone; Capuano, Alessandro; Nardecchia, Francesca; Granata, Tiziana; Pollini, Luca; Di Rocco, Martina; Marras, Carlo Efisio; Nardocci, Nardo; Leuzzi, Vincenzo Share Save
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans Pannone, Luca; Muto, Valentina; Nardecchia, Francesca; Di Rocco, Martina; Marchei, Emilia; Tosato, Federica; Petrini, Stefania; Onorato, Giada; Lanza, Enrico; Bertuccini, Lucia; Manti, Filippo; Folli, Viola; Galosi, Serena; Di Schiavi, Elia; Leuzzi, Vincenzo; Tartaglia, Marco; Martinelli, Simone Share Save
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders Passaretti, Massimiliano; Pollini, Luca; Paparella, Giulia; De Biase, Alessandro; Colella, Donato; Angelini, Luca; Galosi, Serena; Manti, Filippo; Guerra, Andrea; Leuzzi, Vincenzo; Berardelli, Alfredo; Bologna, Matteo Share Save
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia Di Rocco, Martina; Galosi, Serena; Lanza, Enrico; Tosato, Federica; Caprini, Davide; Folli, Viola; Friedman, Jennifer; Bocchinfuso, Gianfranco; Martire, Alberto; Di Schiavi, Elia; Leuzzi, Vincenzo; Martinelli, Simone Share Save
In-depth phenotyping of movement disorders in WARS2 encephalopathy Galosi, Serena; Danti, Federica Rachele; Nardecchia, Francesca; Gigliotti, Federica; Alfonsi, Chiara; Martinelli, Diego; Zorzi, Giovanna; Cazorla, Angeles Garcia; Nardocci, Nardo; Leuzzi, Vincenzo; Ghezzi, Daniele Share Save
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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus Galosi, Serena; Edani, Ban H.; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A.; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Danielle G. M.; Ellis, Colin A.; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Baranano, Kristin W.; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noelle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E.; Venkateswaran, Sunita; Wheeler, Patricia G.; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C.; Lefeber, Dirk; Tartaglia, Marco; Hamdan, Fadi F.; Grabinska, Kariona A.; Leuzzi, Vincenzo Share Save
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