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

Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A

为2A型脑桥小脑发育不全患者构建生长曲线和营养方案

Kuhn, Alice; Hackenberg, Maren; Klauser, Anna-Lena; Herrmann, Antonia; Matilainen, Julia; Mayer, Simone; Frölich, Saskia; Krägeloh-Mann, Ingeborg; Groeschel, Samuel; Janzarik, Wibke G

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions

异染性脑白质营养不良:新的治疗进展和新兴研究方向

Asbreuk, Marije A B C; Schoenmakers, Daphne H; Adang, Laura Ann; Beerepoot, Shanice; Bergner, Caroline; Bley, Annette; Boelens, Jaap Jan; Bugiani, Marianna; Calbi, Valeria; García-Cazorla, Àngeles; Eklund, Erik A; Fumagalli, Francesca; Grønborg, Sabine Weller; Groeschel, Samuel; Van Hasselt, Peter M; Hollak, Carla E M; Jones, Simon A; de Koning, Tom J; van Kuilenburg, André B P; Laugwitz, Lucia; Lindemans, Caroline; Mochel, Fanny; Øberg, Andreas; Ram, Dipak; Schöls, Ludger; Sevin, Caroline; Sinha, Jigyasha; Vaz, Frédéric M; Zerem, Ayelet; Wolf, Nicole I

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter

基于共识的专家建议:白质消失的诊断和临床管理

van Voorst, Romy J; Schoenmakers, Daphne H; Bonkowsky, Joshua L; Vanderver, Adeline; Krägeloh-Mann, Ingeborg; Bernard, Geneviève; Bertini, Enrico; Fatemi, Ali; Sgobbi, Paulo V; Wolf, Nicole I; Groeschel, Samuel; Tonduti, Davide; Sevin, Caroline; Orthmann-Murphy, Jennifer L; Schöls, Ludger; Salsano, Ettore; Brais, Bernard; Jaffe, Nicole; Ter Horst, Kasper W; Hannema, Sabine E; Hayes, Katherine G; Meyburg, Jochen; van Heerde, Marc; Sbrocchi, Anne Marie; van Spaendonk, Rosalina; Thiffault, Isabelle; Hofsteenge, Geesje H; Sudmeier-Broek, Carolina; Timmer, Corrie; Skwirut, Donna; Buck, Allyson; Hollberg, Bret; Chapleau, Ron; Dekker, Hanka; Campbell, Susan G; Abbink, Truus E M; Leferink, Prisca S; van der Knaap, Marjo S

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

EEFSEC 缺乏症:一种伴有早发性神经退行性变的硒病

Laugwitz, Lucia; Buchert, Rebecca; Olguín, Patricio; Estiar, Mehrdad A; Atanasova, Mihaela; Jr, Wilson Marques; Enssle, Jörg; Marsden, Brian; Avilés, Javiera; González-Gutiérrez, Andrés; Candia, Noemi; Fabiano, Marietta; Morlot, Susanne; Peralta, Susana; Groh, Alisa; Schillinger, Carmen; Kuehn, Carolin; Sofan, Linda; Sturm, Marc; Bender, Benjamin; Tomaselli, Pedro J; Diebold, Uta; Mueller, Amelie J; Spranger, Stephanie; Fuchs, Maren; Freua, Fernando; Melo, Uirá Souto; Mattas, Lauren; Ashtiani, Setareh; Suchowersky, Oksana; Groeschel, Samuel; Rouleau, Guy A; Yosovich, Keren; Michelson, Marina; Leibovitz, Zvi; Bilal, Muhammad; Uctepe, Eyyup; Yesilyurt, Ahmet; Ozdogan, Orhan; Celik, Tamer; Krägeloh-Mann, Ingeborg; Riess, Olaf; Rosewich, Hendrik; Umair, Muhammad; Lev, Dorit; Zuchner, Stephan; Schweizer, Ulrich; Lynch, David S; Gan-Or, Ziv; Haack, Tobias B

Seizures in childhood cerebral adrenoleukodystrophy: New insights and remaining knowledge gaps

儿童脑性肾上腺脑白质营养不良症的癫痫发作:新的见解和尚存的知识空白

Groeschel, Samuel; Rosewich, Hendrik

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy

ARSA变异与异染性脑白质营养不良患者的认知衰退和运动功能长期保留相关

Beerepoot, Shanice; Schoenmakers, Daphne H; Fumagalli, Francesca; Groeschel, Samuel; Schöls, Ludger; Schiffmann, Raphael; Wong, Sheila; Boespflug-Tanguy, Odile; Sevin, Caroline; Nadjar, Yann; Bley, Annette; Mochel, Fanny; Horn, Morten A; Baldoli, Cristina; Locatelli, Sara; Hengel, Holger; Laugwitz, Lucia; Hollak, Carla E M; Gieselmann, Volkmar; van der Knaap, Marjo S; Wolf, Nicole I

Healthcare utilization and disease burden in children with metachromatic leukodystrophy in Germany

德国异染性脑白质营养不良患儿的医疗保健利用情况和疾病负担

Kehrer, Christiane; Bevot, Andrea; Martin, Pascal; Raabe, Christa; Gregor, Saskia; Krägeloh-Mann, Ingeborg; Groeschel, Samuel

Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families

对多重硫酸酯酶缺乏症患者及其家庭生活经历的探索

Gavazzi, Francesco; Yu, Emily; Tashnim, Zarrin; Woidill, Sarah; Sevagamoorthy, Anjana; Arnold, Kaley; Ammann-Schnell, Louisa; Groeschel, Samuel; Krägeloh-Mann, Ingeborg; Breitling, Vivian; Schlotawa, Lars; Ahrens-Nicklas, Rebecca; Adang, Laura A

Not the age but education and vitamins a secret to good auditory memory and attention

良好的听觉记忆力和注意力并非取决于年龄,而是取决于教育程度和维生素摄入。

Kern, Jan; Böhringer, Judith; Timmann, Dagmar; Trollmann, Regina; Stendel, Claudia; Kamm, Cristoph; Röbl, Markus; Santhanakumaran, Vidiyaah; Groeschel, Samuel; Beck-Wödl, Stefanie; Göricke, Sophia; Krägeloh-Mann, Ingeborg; Synofzik, Matthis; Menon, Meenakshi; Malo, Palash K; Lingegodwa, Abhishek Mensegere; Stezin, Albert; Hameed, Shafeeq K Shahul; Narayanasamy, Rajitha; Vishwanath, Vindhya; R, Meghana; M, Divya N; Partha, Ajith; M, Amitha C; HS, Dev Kumar; Arvind, Prathima; Agrawal, Deepashri; HS, Sunitha; Velavarajan, Goutham; Mondal, Banashree; Sundarakumar, Jonas S; Issac, Thomas Gregor; Pradhan, Hitesh; Sundarakumar, Jonas S; Duchesne, Simon; Chamberland, Éléonore; Moravveji, Seyedadel; Doyon, Nicolas; Mallikarjun, Divya N; S, Monisha; Lingegodwa, Abhishek Mensegere; Stezin, Albert; Partha, Ajith; M, Amitha C; Narayanasamy, Rajitha; R, Meghana; Menon, Meenakshi; Velavarajan, Goutham; Vishwanath, Vindhya; Malo, Palash K; HS, Sunitha; HS, Deva Kumar; Agrawal, Deepashri; Hameed, Shafeeq K Shahul; Arvind, Prathima; Sundarakumar, Jonas S; Issac, Thomas Gregor; Partha, Ajith; S, Monisha; Stezin, Albert; L, Abhishek M; Mallikarjun, Divya N; M, Amitha C; HS, Deva Kumar; Narayanasamy, Rajitha; Menon, Meenakshi; R, Meghana; Vishwanath, Vindhya; Velavarajan, Goutham; Malo, Palash K; Arvind, Prathima; Hameed, Shafeeq K Shahul; HS, Sunitha; Singh, Sadhana; Mondal, Banashree; Agrawal, Deepashri; Sundarakumar, Jonas S; Issac, Thomas Gregor; Menon, Anjana J; S, Monisha; Issac, Thomas Gregor; Zhu, Beika; Wangzhou, Andi; Yu, Diankun; Li, Tao; Schmidt, Rachael; De Florencio, Stacy L; Chao, Lauren; Seeley, William W; Piao, Xianhua; HS, Deva Kumar; Selva, Monisha; Lingegodwa, Abhishek Mensegere; Stezin, Albert; Partha, Ajith; Mallikarjun, Divya N; M, Amitha C; Narayanasamy, Rajitha; Menon, Meenakshi; R, Meghana; Vishwanath, Vindhya; Velavarajan, Goutham; Malo, Palash K; Arvind, Prathima; Hameed, Shafeeq K Shahul; HS, Sunitha; Mondal, Banashree; Agrawal, Deepashri; Sundarakumar, Jonas S; Issac, Thomas Gregor; Velavarajan, Goutham; M, Amitha C; Partha, Ajith; M, Divya N; R, Meghana; Menon, Meenakshi; Lingegodwa, Abhishek Mensegere; Stezin, Albert; S, Monisha; HS, Dev Kumar; Narayanasamy, Rajitha; Vishwanath, Vindhya; Malo, Palash K; Arvind, Prathima; Hameed, Shafeeq K Shahul; HS, Sunitha; Singh, Sadhana; Mondal, Banashree; Agrawal, Deepashri; Sundarakumar, Jonas S; Issac, Thomas Gregor; Gupta, Mayank; Talukdar, Ankita; Hussain, Rehab; Diwakar, Latha; López‐Martos, David; Cacciaglia, Raffaele; Suárez‐Calvet, Marc; Milà‐Alomà, Marta; Minguillon, Carolina; Zetterberg, Henrik; Blennow, Kaj; Gispert, Juan Domingo; Grau‐Rivera, Oriol; Sánchez‐Benavides, Gonzalo; Miyashita, Akinori; Hara, Norikazu; Obinata, Ai; Tsukie, Tamao; Hasegawa, Mai; Kikuchi, Masataka; Kasuga, Kensaku; Ikeuchi, Takeshi; Sánchez‐Benavides, Gonzalo; Doerr, Felix; Rădoi, Andreea; Grau‐Rivera, Oriol; Minguillon, Carolina; Rodríguez, Carlota Medina; Fauria, Karine; Tröger, Johannes; Linz, Nicklas; Gispert, Juan Domingo; König, Alexandra; Kuhn, Elizabeth; van Lent, Debora Melo; Stark, Melina; Kleineidam, Luca; Yakupov, Renat; Peters, Oliver; Priller, Josef; Schneider, Anja; Fliessbach, Klaus; Wiltfang, Jens; Düzel, Emrah; Buerger, Katharina; Perneczky, Robert; Teipel, Stefan; Laske, Christoph; Spottke, Annika; Jessen, Frank; Wagner, Michael; Duchesne, Simon; Rousseau, Louis‐Simon; Potvin, Olivier; Belzile, Florence; Welch, Laurie‐Ann; Cournoyer, Béatrice; Arseneau, Marianne; Lapierre, Véronick; Poulin, Sara‐Maude; Hudon, Carol; Luckett, Emma S; Abakkouy, Yasmina; Collij, Lyduine E; García, David Vállez; Alves, Isadora Lopes; Lorenzini, Luigi; Gispert, Juan Domingo; Visser, Pieter Jelle; den Braber, Anouk; Ritchie, Craig W; Vandenberghe, Rik; Wolz, Robin; Shekari, Mahnaz; Vilor‐Tejedor, Natalia; Farrar, Gill; Barkhof, Frederik; Cleynen, Isabelle; Kikuchi, Masataka; Miyashita, Akinori; Hirota, Yu; Hara, Norikazu; Hasegawa, Mai; Sakakibara, Yasufumi; Sekiya, Michiko; Saito, Yuko; Murayama, Shigeo; Iijima, Koichi M; Ikeuchi, Takeshi; Alexopoulou, Zampeta‐Sofia; Köhler, Stefanie; Tröger, Johannes; Mallick, Elisa; Linz, Nicklas; Priller, Josef; Schneider, Anja; Fließbach, Klaus; Falkenburger, Björn; Wiltfang, Jens; Zerr, Inga; Jessen, Frank; Klockgether, Thomas; Düzel, Emrah; Spottke, Annika; Wagner, Michael; Laske, Christoph; Manera, Valeria; Teipel, Stefan; König, Alexandra; Evans, Tavia E; Vilor‐Tejedor, Natalia; Rodrigo, Albert; Genius, Patricia; Rodríguez‐Fernández, Blanca; Anastasi, Federica; Navarro, Arcadi; Adams, Hieab HH; Gispert, Juan Domingo; Diwakar, Latha; Gupta, Mayank; Talukdar, Ankita; Hussain, Rehab; Vishwanath, Vindhya; Malo, Palash K; Partha, Ajith; M, Divya N; Lingegodwa, Abhishek Mensegere; Stezin, Albert; M, Amitha C; Narayanasamy, Rajitha; Menon, Meenakshi; R, Meghana; Velavarajan, Goutham; HS, Deva Kumar; Arvind, Prathima; S, Monisha; Hameed, Shafeeq K Shahul; HS, Sunitha; Agrawal, Deepashri; Mondal, Banashree; Singh, Sadhana; Sundarakumar, Jonas S; Issac, Thomas Gregor; Moonen, Sebastiaan; Koper, Marta J; Ronisz, Alicja; Ospitalieri, Simona; Vegh, Zsuzsanna; T’Syen, Dries; Rabe, Sabine; Staufenbiel, Matthias; De Strooper, Bart; Balusu, Sriram; Thal, Dietmar Rudolf; Kang, Moonil; Farrell, John J; Zhu, Congcong; Park, Hyeonseul; Kang, Sarang; Seo, Eun Hyun; Choi, Kyu Yeong; Jun, Gyungah R; Won, Sungho; Gim, Jungsoo; Lee, Kun Ho; Farrer, Lindsay A; Anastasi, Federica; Genius, Patricia; Rodríguez‐Fernández, Blanca; Escalante, Armand González; Hernández‐Villamizar, Luis Felipe; Lorenzini, Luigi; del Campo, Marta; Sánchez‐Benavides, Gonzalo; Yang, Chengran; Timsina, Jigyasha; Minguillón, Carolina; Esteller, Manel; Navarro, Arcadi; Cruchaga, Carlos; Suarez‐Calvet, Marc; Vilor‐Tejedor, Natalia; Gonzalez, Laura Garcia; Sarrias, Andrea Martí; Puertas, Maria Carmen; Turpin, Isabel; Gil, Ángel Bayón; Infante, Patricia Resa; Picado, Javier Martinez; Navarro, Arcadi; Acosta, Sandra; Stark, Melina; Wagner, Michael; Kuhn, Elizabeth; Bürger, Katharina; Düzel, Emrah; Hellmann‐Regen, Julian; Heneka, Michael T; Laske, Christoph; Perneczky, Robert; Peters, Oliver; Priller, Josef; Schmid, Matthias; Schneider, Anja; Spottke, Annika; Teipel, Stefan; Wiltfang, Jens; Jessen, Frank; Kleineidam, Luca; Kuhn, Elizabeth; Klinger, Hannah M; Amariglio, Rebecca E; Jessen, Frank; Wagner, Michael; Chételat, Gael; Rentz, Dorene M; Sperling, Reisa A; Ebenau, Jarith L; Butterbrod, Elke; van der Flier, Wiesje M; Sikkes, Sietske AM; Rami, Lorena; Sánchez‐Benavides, Gonzalo; Gifford, Katherine A; Van Hulle, Carol A; Buckley, Rachel F; Blujdea, Elena Raluca; Vermunt, Lisa; Chen‐Plotkin, Alice; Irwin, David J; Boiten, Walter; Pijnenburg, Yolande AL; van der Flier, Wiesje M; Van Bokhoven, Pieter; del Campo, Marta; Teunissen, Charlotte; Basavaraju, Nimisha; Kommaddi, Reddy Peera; HS, Sunitha; Lingegodwa, Abhishek Mensegere; Partha, Ajith; Arvind, Prathima; NM, Divya; CM, Amitha; HS, Deva Kumar; Narayanasamy, Rajitha; R, Meghana; Menon, Meenakshi; Vishwanath, Vindhya; Velavarajan, Goutham; Singh, Sadhana; Malo, Palash K; Stezin, Albert; Sundarakumar, Jonas S; Issac, Thomas Gregor; López‐Martos, David; Brugulat‐Serrat, Anna; Cañas‐Martínez, Alba; Canals‐Gispert, Lidia; Marne, Paula; Gramunt, Nina; Suárez‐Calvet, Marc; Milà‐Alomà, Marta; Minguillon, Carolina; Fauria, Karine; Zetterberg, Henrik; Blennow, Kaj; Molinuevo, Jose Luis; Gispert, Juan Domingo; Grau‐Rivera, Oriol; Sánchez‐Benavides, Gonzalo; R, Meghana; Lingegodwa, Abhishek Mensegere; Narayanasamy, Rajitha; Vishwanath, Vindhya; Menon, Meenakshi; Mallikarjun, Divya N; M, Amitha C; Partha, Ajith; Stezin, Albert; HS, Dev Kumar; Arvind, Prathima; HS, Sunitha; Velavarajan, Goutham; Agrawal, Deepashri; Sundarakumar, Jonas S; Issac, Thomas Gregor; Haseena, P A; Kommaddi, Reddy Peera; Agrawal, Deepashri; Menon, Meenakshi; Narayanasamy, Rajitha; Malo, Palash K; Lingegodwa, Abhishek Mensegere; R, Meghana; Vishwanath, Vindhya; Mallikarjun, Divya N; M, Amitha C; Velavarajan, Goutham; Partha, Ajith; Arvind, Prathima; Hameed, Shafeeq K Shahul; HS, Sunitha; Singh, Sadhana; Stezin, Albert; Sundarakumar, Jonas S; Issac, Thomas Gregor

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

更正:扩展EEF1A2变异个体的神经发育表型及基因型-表型研究

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, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-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