日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

致病性GABRA3变异的功能后果决定了X连锁遗传是显性遗传还是隐性遗传。

Johannesen, Katrine M; Aung, Khaing Phyu; Liao, Vivian Wy; Absalom, Nathan; Chua, Han C; Gan, Xue N; Mao, Miaomiao; McKenzie, Chaseley E; Lee, Hian M; Ortiz, Sebastian; Spillmann, Rebecca C; Shashi, Vandana; Radtke, Rodney A; Mirzaa, Ghayda M; Weisner, P Anne; Flores Daboub, Josue; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid Mbh; van Slegtenhorst, Marjon A; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M; Kruer, Michael C; Bisarad, Pritha; Galaz-Montoya, Carolina I; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Rubboli, Guido; Møller, Rikke S; Reid, Christopher A; Ahring, Philip K

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

癫痫发作对携带致病性GABRB2和GABRB3变异的个体粗大运动功能障碍的预测价值

Ortiz, Sebastian; Affronte, Leonardo; Bagliani, Chiara; El-Kamand, Serene; Kan, Anthony Sze Hon; Kristoffersen, Isabel T; Dahl, Rebekka S; Højte, Anne F; Auvin, Stéphane; Bouman, Arjan; Zeidler, Shimriet; Kluger, Gerhard; Lesca, Gaetan; Chatron, Nicolas; Goke-Samar, Zeynep; Papadopoulou, Maria T; Terzi, Matthildi Athina Papathanasiou; Schaefer, Elise; de Saint Martin, Anne; Baer, Sarah; Al Owain, Mohammed; Takroni, Saud; Al-Dhalaan, Hesham; Bonanni, Paolo; Rossi, Alessandra; Zanotta, Nicoletta; Trivisano, Marina; Specchio, Nicola; de Dominicis, Angela; Striano, Pasquale; Orsini, Alessandro; Mancardi, Maria Margherita; Neuens, Sebastian; Jennesson-Lyver, Melanie; Benkel-Herrenbrueck, Ira; Genevieve, David; Sidlow, Richard; Tezcan, Kamer; Krey, Ilona; Lemke, Johannes R; Platzer, Konrad; Lederer, Damien; Talvik, Inga; Vaher, Ulvi; Braun, Kees P J; Guerrot, Anne-Marie; More, Rebecca; De Wachter, Matthias; Weckhuysen, Sarah; Carapancea, Evelina; Cilio, Maria Roberta; Jacobs, Julia; Sterbova, Katalin; Balestrini, Simona; Guerrini, Renzo; Peroni, Giulio; Mero, Inger-Lise; ElNaggar, Walaa; Elkhateeb, Nour; Schmetz, Ariane; Chan, Denise L; Mirzaa, Ghayda M; Chaumette, Boris; Legrand, Adrien; McTague, Amy; Stödberg, Tommy; Harris, Rebekah V; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Ahring, Philip K; Absalom, Nathan L; Møller, Rikke S

Global Use of Casein Glycomacropeptide Protein Substitutes for Phenylketonuria (PKU): Health Professional Perspectives

全球范围内酪蛋白糖巨肽蛋白替代品在苯丙酮尿症(PKU)治疗中的应用:卫生专业人员的视角

Evans, Sharon; Singh, Rani; Ahring, Kirsten; Ashmore, Catherine; Daly, Anne; Ford, Suzanne; Gama, Maria Ines; Giżewska, Maria; Hill, Melanie; Ilgaz, Fatma; Jackson, Richard; Newby, Camille; Pinto, Alex; Tosi, Martina; Nas, Ozlem Yilmaz; Zuvadelli, Juri; MacDonald, Anita

Pharyngeal electrical stimulation for postextubation dysphagia after stroke: a randomized trial on hospitalization costs from a health insurance perspective

咽部电刺激治疗卒中后拔管后吞咽困难:一项从医疗保险角度探讨住院费用的随机试验

Labeit, Bendix; Jung, Anne; von Itter, Jonas; Claus, Inga; Ahring, Sigrid; Warnecke, Tobias; Muhle, Paul; Kremer, Almut; Meuth, Sven G; Dziewas, Rainer; Suntrup-Krueger, Sonja

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants

致病性GABRG2功能丧失和功能获得变异个体的表型谱

Rossi, Alessandra; Lin, Susan X N; Absalom, Nathan L; Ortiz-De la Rosa, Sebastian; Liao, Vivian W Y; Mohammadi, Nazanin A; Viswanathan, Sindhu; Stödberg, Tommy; Danieli, Alberto; Bonanni, Paolo; Aeby, Alec; Orsini, Alessandro; Bonuccelli, Alice; Rüegger, Andrea; Giraldez, Beatriz G; Isidor, Bertrand; Stüve, Burkhard; Marini, Carla; Cesaroni, Elisabetta; Fenger, Christina D; Philippe, Christophe; Meunier, Colombine; Lederer, Damien; Moortgat, Stéphanie; Spinelli, Egidio; Fallica, Elisa; Zeiner, Fiona; Bauman, Matthias; Licchetta, Laura; Bisulli, Francesca; Operto, Francesca F; Benkel-Herrenbrueck, Ira; Gorman, Kathleen M; Johannesen, Katrine M; Platzer, Konrad; Schnabel, Franziska; Lagae, Lieven; Laufs, Mirjam; Zordania, Riina; Malone, Stephen; Messana, Tullio; Werckx, Wendy; Jonsson, Charlotta; Afawi, Zaid; Foiadelli, Thomas; Halleb, Yosra; Stoeva, Radka; Jennesson-Lyver, Mélanie; Lesca, Gaetan; Guerrini, Renzo; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Møller, Rikke S; Rubboli, Guido; Ahring, Philip K

Treating postextubation dysphagia after stroke with pharyngeal electrical stimulation -insights from a randomized controlled pilot trial

咽部电刺激治疗卒中后拔管后吞咽困难——一项随机对照试点试验的启示

Suntrup-Krueger, Sonja; Labeit, Bendix; von Itter, Jonas; Jung, Anne; Claus, Inga; Ahring, Sigrid; Warnecke, Tobias; Dziewas, Rainer; Muhle, Paul

Multicenter study on long-term growth in patients with phenylketonuria

苯丙酮尿症患者长期生长发育的多中心研究

Stanescu, S; Belanger-Quintana, A; Rocha, J C; Almeida, M F; Ahring, K; Dokoupil, K; Lammardo, A M; van Dam, E; Muriel, A; MacDonald, A

Clinical assessment of growth patterns, weight, and dietary management in children and adults with phenylketonuria - a retrospective study

苯丙酮尿症患儿及成人生长模式、体重及饮食管理的临床评估——一项回顾性研究

Bahtiri, Lionesa; Jørgensen, Christine; Ahring, Kirsten; Rasmussen, Helle; Hermansen, Janne Meedon; Fjellbirkeland, Olivia Welle; Lund, Allan Meldgaard; Ørngreen, Mette Cathrine

Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity

获得功能性GABRB3变异体的受体脱敏与临床严重程度的相关性

Lin, Susan X N; Ahring, Philip K; Keramidas, Angelo; Liao, Vivian W Y; Møller, Rikke S; Chebib, Mary; Absalom, Nathan L

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants

与GABRB2功能获得性和功能丧失性变异相关的独特神经发育和癫痫表型

Mohammadi, Nazanin Azarinejad; Ahring, Philip Kiær; Yu Liao, Vivian Wan; Chua, Han Chow; Ortiz de la Rosa, Sebastián; Johannesen, Katrine Marie; Michaeli-Yossef, Yael; Vincent-Devulder, Aline; Meridda, Catherine; Bruel, Ange-Line; Rossi, Alessandra; Patel, Chirag; Klepper, Joerg; Bonanni, Paolo; Minghetti, Sara; Trivisano, Marina; Specchio, Nicola; Amor, David; Auvin, Stéphane; Baer, Sarah; Meyer, Pierre; Milh, Mathieu; Salpietro, Vincenzo; Maroofian, Reza; Lemke, Johannes R; Weckhuysen, Sarah; Christophersen, Palle; Rubboli, Guido; Chebib, Mary; Jensen, Anders A; Absalom, Nathan L; Møller, Rikke Steensbjerre