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

Piezoelectric properties of PVDF/PLA blends prepared by melt processing and electrospinning

熔融加工和静电纺丝制备的PVDF/PLA共混物的压电性能

Estiar, Mehrdad A; Yu, Eric; Varghaei, Parizad; Ross, Jay P; Ashtiani, Setareh; Bayne, Andrew N; Coarelli, Giulia; Timmann, Dagmar; Klockgether, Thomas; Beijer, Danique; Mengel, David; Coutelier, Marie; Dion, Patrick A; Suchowersky, Oksana; Ewenczyk, Claire; Goizet, Cyril; Stevanin, Giovanni; Van Damme, Philip; Al-Chalabi, Ammar; Zuchner, Stephan; Synofzik, Matthis; Veldink, Jan H; Trempe, Jean-Francois; Durr, Alexandra; Rouleau, Guy A; Gan-Or, Ziv; Ngowi, Nina Sandra Natasha; Ufitinema, Pacifique; Qambayot, Maria Albin; Schurer, Janna M; Melin, Chloé; Capsal, Jean-Fabien; Zednik, Ricardo; Pommella, Angelo; Demarquette, Nicole; Chenal, Jean-Marc

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

CPT1C功能缺失变异:不支持其在遗传性痉挛性截瘫中起因果作用

Zhu, Rui; Liu, Lang; Estiar, Mehrdad A; Asayesh, Farnaz; Ahmad, Jamil; Teferra, Meron; Yoon, Grace; Tarnopolsky, Mark; Boycott, Kym M; Dupre, Nicolas; Dion, Patrick A; Suchowersky, Oksana; Jordanova, Albena; Lee, Yi-Chung; Stevanin, Giovanni; Zuchner, Stephan; Rouleau, Guy A; Gan-Or, Ziv

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

出版商更正:对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants

从痉挛性截瘫到婴儿神经退行性疾病:扩展与双等位基因 SPAST 变异相关的表型谱

Degoutin, Manon; Angelini, Chloé; Bar, Claire; El Khedoud, Wahiba Amer; Barnerias, Christine; Boulariah-Hadjou, Razika; Estiar, Mehrdad A; Ewenczyk, Claire; Gan-Or, Ziv; Lacombe, Didier; Lefeuvre, Claire; Majethia, Purvi; Messaoud-Khelifi, Mouna; Narayanan, Dhanya Lakshmi; Rouleau, Guy A; Suchowersky, Oksana; Shukla, Anju; Guillaud-Bataille, Marine; Stevanin, Giovanni; Goizet, Cyril

Editorial: Translational research in hereditary spastic paraplegias: filling the diagnosis gap and therapeutic perspectives

社论:遗传性痉挛性截瘫的转化研究:填补诊断空白和治疗前景

Martinuzzi, Andrea; Blackstone, Craig; Stevanin, Giovanni

Globalizing newborn screening: bridging gaps in genetic diagnosis and treatment

新生儿筛查全球化:弥合基因诊断和治疗方面的差距

Tariq, Huma; Salpietro, Vincenzo; Houlden, Henry; Stevanin, Giovanni

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy

近亲结婚家族中脑瘫患者的隐性基因组和表型变异

Bisarad, Pritha; Wang, Yung-Chun; Skidmore, Peter T; Galaz-Montoya, Carolina I; Lewis, Sara A; Alhaddad, Bader; Kong, Nahyun; Julian, Dominic; Magee, Helen; Kruer, Tyler N; Xie, Yuhan; Zheng, Wangjie; Li, Boyang; Rajabpour, Fatemeh V; Liu, James; Revanur, Anjali; Bakur, Khadijah; Firouzabadi, Saghar Ghasemi; Sharbatkhori, Sarina; Tafakhori, Abbas; Taghiabadi, Ehsan; Nezaminargabad, Ermia; Vosoogh, Shohreh; Jamshidi, Javad; Arefnia, Serajaddin; Hosseini, Seyed Ahmad; Khajehmirzaei, Alireza; Jamali, Faezeh; Ahmadifard, Azadeh; Khodadadi, Hamidreza; Daneshmand, Parvaneh; Bohlega, Saeed; Maddirevula, Sateesh; Nadeef, Seba Saleh; Hashem, Mais O; Salih, Mustafa A; Mohmed, Inaam N; Sticht, Heinrich; Morias, Sara Peres; Damásio, Joana; Santos, Mariana; Loureiro, José Leal; Rodrigues, Rita; Stevanin, Giovanni; Benkirane, Mehdi; Dauriat, Benjamin; Head, Nicholas; Baptista, Júlia; Shahhosseini, Saeid; Mohammad, Farhan; Zhao, Hongyu; Padilla-Lopez, Sergio; Alkuraya, Fowzan; Bakhtiari, Somayeh; Kruer, Michael C; Jin, Sheng Chih; Darvish, Hossein

GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses

与智力障碍和痉挛性截瘫相关的GRID1/GluD1纯合变异会损害mGlu1/5受体信号传导和兴奋性突触。

Ung, Dévina C; Pietrancosta, Nicolas; Badillo, Elena Baz; Raux, Brigitt; Tapken, Daniel; Zlatanovic, Andjela; Doridant, Adrien; Pode-Shakked, Ben; Raas-Rothschild, Annick; Elpeleg, Orly; Abu-Libdeh, Bassam; Hamed, Nasrin; Papon, Marie-Amélie; Marouillat, Sylviane; Thépault, Rose-Anne; Stevanin, Giovanni; Elegheert, Jonathan; Letellier, Mathieu; Hollmann, Michael; Lambolez, Bertrand; Tricoire, Ludovic; Toutain, Annick; Hepp, Régine; Laumonnier, Frédéric

IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia

IRF2BPL 会导致轻度智力障碍,随后出现迟发性共济失调

Heide, Solveig; Davoine, Claire-Sophie; Cunha, Paulina; Scherer-Gagou, Clarisse; Keren, Boris; Stevanin, Giovanni; Charles, Perrine; Heron, Delphine; Brice, Alexis; Durr, Alexandra