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

Cytoimmunological Profile of Lower Airways in Post-COVID-19 Syndrome (PCS): Predictive Value of Bronchoalveolar Lavage.

COVID-19 后综合征 (PCS) 下呼吸道细胞免疫学特征:支气管肺泡灌洗的预测价值

Dolna-Michno Justyna, Kopiński Piotr, Przybylski Grzegorz, Wypasek Ewa, Szymańska Magdalena, Wędrowska Ewelina, Mikołajczyk Klaudia, Senderek Tomasz, Gagat Maciej

Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort

髓鞘蛋白零突变相关遗传性神经病:来自新的神经活检队列的神经病理学见解

Bremer, Juliane; Meinhardt, Axel; Katona, Istvan; Senderek, Jan; Kämmerer-Gassler, Elke K; Roos, Andreas; Ferbert, Andreas; Schröder, J Michael; Nikolin, Stefan; Nolte, Kay; Sellhaus, Bernd; Popzhelyazkova, Klimentina; Tacke, Frank; Schara-Schmidt, Ulrike; Neuen-Jacob, Eva; de Groote, Chantal Ceuterick; de Jonghe, Peter; Timmerman, Vincent; Baets, Jonathan; Weis, Joachim

HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy

HNRNPA1 新生变异与儿童早期发病、快速进展性全身性肌病相关

Roos, Andreas; Häusler, Martin; Kollipara, Laxmikanth; Topf, Ana; Preusse, Corinna; Stucka, Rolf; Nolte, Kay; Strom, Tim; Berutti, Riccardo; Jiang, Xuehui; Koll, Randi; Lochmüller, Hanns; Schacht, Sabine Maria; Zahedi, René P; Weis, Joachim; Senderek, Jan

Assessment of Facial Pain After Internal Carotid Artery Stenting: The Role of External Carotid Artery Overstenting

颈内动脉支架置入术后面部疼痛的评估:颈外动脉过度支架置入的作用

Łyko-Morawska, Dorota; Szkółka, Łukasz; Serafin, Michał; Senderek, Emila; Kiczmer, Paweł; Górska, Magdalena; Kuczmik, Wacław

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

常染色体隐性遗传TOR1A相关疾病的临床和遗传谱

Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Martínez-González, Maria Jesús; Levandoski, Kristin M; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael T; Vogel, Marina; Abicht, Angela; Moutton, Sébastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim M; Lochmüller, Hanns; Mohammadi, Mohammad Hasan; Alvi, Javeria Raza; Zackai, Elaine H; Keena, Beth A; Skraban, Cara M; Berger, Seth I; Andrew, Erin H; Rahimian, Elham; Morrow, Michelle M; Wentzensen, Ingrid M; Millan, Francisca; Henderson, Lindsay B; Dafsari, Hormos Salimi; Jungbluth, Heinz; Gomez-Ospina, Natalia; McRae, Anne; Peter, Merlene; Veltra, Danai; Marinakis, Nikolaos M; Sofocleous, Christalena; Ashrafzadeh, Farah; Pehlivan, Davut; Lemke, Johannes R; Melki, Judith; Benezit, Audrey; Bauer, Peter; Weis, Denisa; Lupski, James R; Senderek, Jan; Christodoulou, John; Chung, Wendy K; Goodchild, Rose; Offiah, Amaka C; Moreno-De-Luca, Andres; Suri, Mohnish; Ebrahimi-Fakhari, Darius; Houlden, Henry; Maroofian, Reza

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

先天性痛觉缺失和遗传性感觉及自主神经病变的遗传图谱

Lischka, Annette; Eggermann, Katja; Record, Christopher J; Dohrn, Maike F; Laššuthová, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Šoukalová, Jana; Laura, Matilde; Rossor, Alexander M; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J; Ungelenk, Martin; Debus, Karlien Y; Feely, Shawna M E; Gläser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramírez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Romero Sánchez, Juan; Suthar, Renu; Udani, Vrajesh; Nalini, Atchayaram; Unnikrishnan, Gopikrishnan; Marques, Wilson Junior; Mercier, Sandra; Procaccio, Vincent; Bris, Céline; Suresh, Beena; Reddy, Vaishnavi; Skorupinska, Mariola; Bonello-Palot, Nathalie; Mochel, Fanny; Dahl, Georg; Sasidharan, Karthika; Devassikutty, Fiji M; Nampoothiri, Sheela; Rodovalho Doriqui, Maria J; Müller-Felber, Wolfgang; Vill, Katharina; Haack, Tobias B; Dufke, Andreas; Abele, Michael; Stucka, Rolf; Siddiqi, Saima; Ullah, Noor; Spranger, Stephanie; Chiabrando, Deborah; Bolgül, Behiye S; Parman, Yesim; Seeman, Pavel; Lampert, Angelika; Schulz, Jörg B; Wood, John N; Cox, James J; Auer-Grumbach, Michaela; Timmerman, Vincent; de Winter, Jonathan; Themistocleous, Andreas C; Shy, Michael; Bennett, David L; Baets, Jonathan; Hübner, Christian A; Leipold, Enrico; Züchner, Stephan; Elbracht, Miriam; Çakar, Arman; Senderek, Jan; Hornemann, Thorsten; Woods, C Geoffrey; Reilly, Mary M; Kurth, Ingo

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

多态性AT重复序列导致MME突变热点外显子频繁发生等位基因缺失

Høyer, Helle; Hilmarsen, Hilde T; Sunder-Plassmann, Raute; Braathen, Geir J; Andersen, Peter M; Beetz, Christian; Hacker, Sandra; Holla, Øystein L; Kurth, Ingo; Löscher, Wolfgang N; Reiter, Simone B C F; Rudnik-Schöneborn, Sabine; Strand, Linda; Windhager, Reinhard; Witsch-Baumgartner, Martina; Senderek, Jan; Auer-Grumbach, Michaela

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

HPDL基因的双等位基因变异会导致纯粹型和复杂性遗传性痉挛性截瘫。

Manuela Wiessner,Reza Maroofian,Meng-Yuan Ni,Andrea Pedroni,Juliane S Müller,Rolf Stucka,Christian Beetz,Stephanie Efthymiou,Filippo M Santorelli,Ahmed A Alfares,Changlian Zhu,Isabella Ceccherini,Michele Iacomino,Federico Zara,Vincenzo Salpietro,Marcello Scala,Marta Rusmini,Yiran Xu,Yinghong Wang,Yasuhiro Suzuki,Kishin Koh,Haitian Nan,Hiroyuki Ishiura,Shoji Tsuji,Laëtitia Lambert,Emmanuelle Schmitt,Elodie Lacaze,Hanna Küpper,David Dredge,Cara Skraban,Amy Goldstein,Mary J H Willis,Katheryn Grand,John M Graham,Richard A Lewis,Francisca Millan,Özgür Duman,Nihal Dündar,Gökhan Uyanik,Ludger Schöls,Peter Nürnberg,Gudrun Nürnberg,Andrea Catala Bordes,Pavel Seeman,Martin Kuchar,Hossein Darvish,Adriana Rebelo,Filipa Bouçanova,Jean-Jacques Medard,Roman Chrast,Michaela Auer-Grumbach,Fowzan S Alkuraya,Hanan Shamseldin,Saeed Al Tala,Jamileh Rezazadeh Varaghchi,Maryam Najafi,Selina Deschner,Dieter Gläser,Wolfgang Hüttel,Michael C Kruer,Erik-Jan Kamsteeg,Yoshihisa Takiyama,Stephan Züchner,Jonathan Baets,Rebecca Schüle,Rita Horvath,Henry Houlden,Luca Bartesaghi,Hwei-Jen Lee,Konstantinos Ampatzis,Tyler Mark Pierson,Jan Senderek

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

中老年人轴突神经病变的遗传图谱:聚焦MME

Senderek, Jan; Lassuthova, Petra; Kabzińska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Dräger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, David N; Horvath, Rita; Høyer, Helle; Iglseder, Stephan; Kennerson, Marina; Kinslechner, Katharina; Kohler, Jennefer N; Kurth, Ingo; Laing, Nigel G; Lamont, Phillipa J; Wolfgang N, Löscher; Ludolph, Albert; Marques, Wilson Jr; Nicholson, Garth; Ong, Royston; Petri, Susanne; Ravenscroft, Gianina; Rebelo, Adriana; Ricci, Giulia; Rudnik-Schöneborn, Sabine; Schirmacher, Anja; Schlotter-Weigel, Beate; Schoels, Ludger; Schüle, Rebecca; Synofzik, Matthis; Francou, Bruno; Strom, Tim M; Wagner, Johannes; Walk, David; Wanschitz, Julia; Weinmann, Daniela; Weishaupt, Jochen; Wiessner, Manuela; Windhager, Reinhard; Young, Peter; Züchner, Stephan; Toegel, Stefan; Seeman, Pavel; Kochański, Andrzej; Auer-Grumbach, Michaela

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

P/Q 型钙通道新型剪接位点突变与儿童癫痫和晚发性缓慢进展性非发作性小脑共济失调的关系

Claudia Stendel, Maria Cristina D'Adamo, Manuela Wiessner, Marina Dusl, Marta Cenciarini, Silvia Belia, Ehsan Nematian-Ardestani, Peter Bauer, Jan Senderek, Thomas Klopstock, Mauro Pessia