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Managing Dystonia in Partington Syndrome Partington综合征中的肌张力障碍管理 Pichon, Emilie; Alioth, Aurea; Chiuve, Sabina Catalano; Zacharia, Andre; Ruiz-Lopez, Marta; Breen, David P.; Zangas-Gehri, Florence; Draye, Florent; Curie, Aurore; Wilson, Duncan; Fung, Victor S. C.; Duma, Stephen; Fluss, Joel; Bally, Julien F. 分享 收藏
Chronic Pain in Patients with Spinal Muscular Atrophy in Switzerland: A Query to the Spinal Muscular Atrophy Registry 瑞士脊髓性肌萎缩症患者的慢性疼痛: 对脊髓性肌萎缩症登记处的查询 Steiner, Leonie; Tscherter, Anne; Henzi, Bettina; Branca, Mattia; Carda, Stefano; Enzmann, Cornelia; Fluss, Joel; Jacquier, David; Neuwirth, Christoph; Ripellino, Paolo; Scheidegger, Olivier; Schlaeger, Regina; Schreiner, Bettina; Stettner, Georg M.; Klein, Andrea 分享 收藏
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (Feb, 10.1038/s41431-024-01560-8, 2024) Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joel; Fagerberg, Christina; Andersen, Charlotte Brasch; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gerard, Benedicte; Fradin, Melanie; Vitobello, Antonio; Tenconi, Romano; Denomme-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A.; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C.; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M.; Ruaud, Lyse 分享 收藏
Inflammatory Type Focal Cerebral Arteriopathy of the Posterior Circulation in Children: A Comparative Cohort Study Slavova, Nedelina; Muenger, Robin; Sanchez-Albisua, Iciar; Regenyi, Maria; Oesch, Gabriela; Fluss, Joel; Hackenberg, Annette; Lebon, Sebastien; Maier, Oliver; Datta, Alexandre N.; Bigi, Sandra; Grunt, Sebastian; Steinlin, Maja 分享 收藏
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Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Samuel, Groeschel; Ramond, Francis; Fluss, Joel; Fagerberg, Christina; Andersen, Charlotte Brasch; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gerard, Benedicte; Fradin, Melanie; Vitobello, Antonio; Tenconi, Romano; Denomme-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A.; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Kruer, Michael C.; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M.; Ruaud, Lyse 分享 收藏
Molecular and Phenotypic Characterization of the RORB-Related Disorder Gokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noemie; Korff, Christian M.; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A.; Labalme, Audrey; Cuddapah, Vishnu A.; Ruggiero, Sarah M.; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O.; Helbig, Katherine L.; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A.; Reid, Kimberley; Spaull, Robert; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; Krenn, Martin; Gerstl, Lucia; Vieker, Silvia; Craiu, Dana; Pendziwiat, Manuela; Haldeman-Englert, Chad; Kanivets, Ilya; Romanova, Irina; Rajan, Deepa S.; Rosenfeld, Jill A.; Au, Margaret; Grand, Katheryn; Graham Jr, John M.; Isapof, Arnaud; Villeneuve, Nathalie; Smol, Thomas; Caumes, Roseline; Zacher, Pia; Neuser, Sonja; Tinschert, Sigrid; Platzer, Konrad; Bartolomaeus, Tobias; Mohnke, Ines; Radtke, Maximilian; Jamra, Rami Abou; Helbig, Ingo; Jansen, Floortje E.; Koop, Klaas; Rudolf, Gabrielle; Kury, Sebastien; Courchet, Julien; Guerrini, Renzo; Lesca, Gaetan 分享 收藏
Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms 儿童期运动障碍可掩盖原发性免疫缺陷: 6例经典共济失调-毛细血管扩张症和变体形式 Blanchard-Rohner, Geraldine; Peirolo, Anna; Coulon, Ludivine; Korff, Christian; Horvath, Judit; Burkhard, Pierre R.; Gumy-Pause, Fabienne; Ranza, Emmanuelle; Jandus, Peter; Dibra, Harpreet; Taylor, Alexander Malcolm R.; Fluss, Joel 分享 收藏
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families Benkirane, Mehdi; Marelli, Cecilia; Guissart, Claire; Roubertie, Agathe; Ollagnon, Elizabeth; Choumert, Ariane; Fluchere, Frederique; Magne, Fabienne Ory; Halleb, Yosra; Renaud, Mathilde; Larrieu, Lise; Baux, David; Patat, Olivier; Bousquet, Idriss; Ravel, Jean-Marie; Cuntz-Shadfar, Danielle; Sarret, Catherine; Ayrignac, Xavier; Rolland, Anne; Morales, Raoul; Pointaux, Morgane; Lieutard-Haag, Cathy; Laurens, Brice; Tillikete, Caroline; Bernard, Emilien; Mallaret, Martial; Carra-Dalliere, Clarisse; Tranchant, Christine; Meyer, Pierre; Damaj, Lena; Pasquier, Laurent; Acquaviva, Cecile; Chaussenot, Annabelle; Isidor, Bertrand; Nguyen, Karine; Camu, William; Eusebio, Alexandre; Carriere, Nicolas; Riquet, Audrey; Thouvenot, Eric; Gonzales, Victoria; Carme, Emilie; Attarian, Shahram; Odent, Sylvie; Castrioto, Anna; Ewenczyk, Claire; Charles, Perrine; Kremer, Laurent; Sissaoui, Samira; Bahi-buisson, Nadia; Kaphan, Elsa; Degardin, Adrian; Doray, Berenice; Julia, Sophie; Remerand, Ganaelle; Fraix, Valerie; Haidar, Lydia Abou; Lazaro, Leila; Laugel, Vincent; Villega, Frederic; Charlin, Cyril; Frismand, Solene; Moreira, Marinha Costa; Witjas, Tatiana; Francannet, Christine; Walther-Louvier, Ulrike; Fradin, Melanie; Chabrol, Brigitte; Fluss, Joel; Bieth, Eric; Castelnovo, Giovanni; Vergnet, Sylvain; Meunier, Isabelle; Verloes, Alain; Brischoux-Boucher, Elise; Coubes, Christine; Genevieve, David; Lebouc, Nicolas; Azulay, Jean Phillipe; Anheim, Mathieu; Goizet, Cyril; Rivier, Francois; Labauge, Pierre; Calvas, Patrick; Koenig, Michel 分享 收藏
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum Serpieri, Valentina; D'Abrusco, Fulvio; Dempsey, Jennifer C.; Cheng, Yong-Han Hank; Arrigoni, Filippo; Baker, Janice; Battini, Roberta; Bertini, Enrico Silvio; Borgatti, Renato; Christman, Angela K.; Curry, Cynthia; D'Arrigo, Stefano; Fluss, Joel; Freilinger, Michael; Gana, Simone; Ishak, Gisele E.; Leuzzi, Vincenzo; Loucks, Hailey; Manti, Filippo; Mendelsohn, Nancy; Merlini, Laura; Miller, Caitlin, V; Muhammad, Ansar; Nuovo, Sara; Romaniello, Romina; Schmidt, Wolfgang; Signorini, Sabrina; Siliquini, Sabrina; Szczaluba, Krzysztof; Vasco, Gessica; Wilson, Meredith; Zanni, Ginevra; Boltshauser, Eugen; Doherty, Dan; Valente, Enza Maria 分享 收藏
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders May, Halie J.; Jeong, Jaehoon; Revah-Politi, Anya; Cohen, Julie S.; Chassevent, Anna; Baptista, Julia; Baugh, Evan H.; Bier, Louise; Bottani, Armand; Carminho A. Rodrigues, Maria Teresa; Conlon, Charles; Fluss, Joel; Guipponi, Michel; Kim, Chong Ae; Matsumoto, Naomichi; Person, Richard; Primiano, Michelle; Rankin, Julia; Shinawi, Marwan; Smith-Hicks, Constance; Telegrafi, Aida; Toy, Samantha; Uchiyama, Yuri; Aggarwal, Vimla; Goldstein, David B.; Roche, Katherine W.; Anyane-Yeboa, Kwame 分享 收藏
Making sense of missense variants in TTN-related congenital myopathies 了解TTN相关先天性肌病的错义变异 Rees, Martin; Nikoopour, Roksana; Fukuzawa, Atsushi; Kho, Ay Lin; Fernandez-Garcia, Miguel A.; Wraige, Elizabeth; Bodi, Istvan; Deshpande, Charu; Oezdemir, Oezkan; Daimagueler, Hulya-Sevcan; Pfuhl, Mark; Holt, Mark; Brandmeier, Birgit; Grover, Sarah; Fluss, Joel; Longman, Cheryl; Farrugia, Maria Elena; Matthews, Emma; Hanna, Michael; Muntoni, Francesco; Sarkozy, Anna; Phadke, Rahul; Quinlivan, Ros; Oates, Emily C.; Schroeder, Rolf; Thiel, Christian; Reimann, Jens; Voermans, Nicol; Erasmus, Corrie; Kamsteeg, Erik-Jan; Konersman, Chaminda; Grosmann, Carla; McKee, Shane; Tirupathi, Sandya; Moore, Steven A.; Wilichowski, Ekkehard; Hobbiebrunken, Elke; Dekomien, Gabriele; Richard, Isabelle; Van den Bergh, Peter; Dominguez-Gonzalez, Cristina; Cirak, Sebahattin; Ferreiro, Ana; Jungbluth, Heinz; Gautel, Mathias 分享 收藏
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From congenial paralysis to post-early brain injury developmental condition: Where does cerebral palsy actually stand? Chabrier, Stephane; Pouyfaucon, Margaux; Chatelin, Alain; Bleyenheuft, Yannick; Fluss, Joel; Gautheron, Vincent; Newman, Christopher J.; Sebire, Guillaume; Van Bogaert, Patrick; Vuillerot, Carole; Brochard, Sylvain; Dinomais, Mickael 分享 收藏
Risk Factors for Postprocedural Arterial Ischemic Stroke in Children With Cardiac Disease Henzi, Bettina C.; Brotschi, Barbara; Balmer, Christian; Hennig, Bert; Rimensberger, Peter; Perez, Marie-Helene; Pfammatter, Jean-Pierre; Beghetti, Maurice; Sekarski, Nicole; Datta, Alexandre N.; Fluss, Joel; Faignart, Nicole; Hackenberg, Annette; Regenyi, Maria; Steinlin, Maja; Hug, Maja I. 分享 收藏
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Feasibility, safety, and outcome of recanalization treatment in childhood stroke Bigi, Sandra; Dulcey, Andrea; Gralla, Jan; Bernasconi, Corrado; Melliger, Amber; Datta, Alexandre N.; Arnold, Marcel; Kaesmacher, Johannes; Fluss, Joel; Hackenberg, Annette; Maier, Oliver; Weber, Johannes; Poloni, Claudia; Fischer, Urs; Steinlin, Maja 分享 收藏
Manual dexterity, but not cerebral palsy, predicts cognitive functioning after neonatal stroke Thebault, Guillaume; Martin, Sophie; Brouillet, Denis; Brunel, Lionel; Dinomais, Mickael; Presles, Emilie; Fluss, Joel; Chabrier, Stephane 分享 收藏
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