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

Spectral Tuning of Hyperbolic Shear Polaritons in Monoclinic Gallium Oxide via Isotopic Substitution

通过同位素取代对单斜氧化镓中双曲剪切极化子的光谱进行调谐

Carini, Giulia; Pradhan, Mohit; Gelžinytė, Elena; Ardenghi, Andrea; Dixit, Saurabh; Obst, Maximilian; Senarath, Aditha S; Mueller, Niclas S; Álvarez-Pérez, Gonzalo; Diaz-Granados, Katja; Kowalski, Ryan A; Niemann, Richarda; Kaps, Felix G; Wetzel, Jakob; Iyer, Raghunandan Balasubramanyam; Mazzolini, Piero; Schubert, Mathias; Klopf, J Michael; Margraf, Johannes T; Bierwagen, Oliver; Wolf, Martin; Reuter, Karsten; Eng, Lukas M; Kehr, Susanne C; Caldwell, Joshua D; Carbogno, Christian; Folland, Thomas G; Wagner, Markus R; Paarmann, Alexander

Motor unit discharge properties of the vastii muscles and their modulation with contraction level depend on the knee-joint angle

股四头肌的运动单元放电特性及其随收缩水平的调节取决于膝关节角度

Valenčič, Tamara; Maeo, Sumiaki; Kluzek, Stefan; Holobar, Aleš; Škarabot, Jakob; Folland, Jonathan P

Ultraconfined terahertz phonon polaritons in hafnium dichalcogenides

二硫化铪中的超限太赫兹声子极化子

Kowalski, Ryan A; Mueller, Niclas S; Álvarez-Pérez, Gonzalo; Obst, Maximilian; Diaz-Granados, Katja; Carini, Giulia; Senarath, Aditha; Dixit, Saurabh; Niemann, Richarda; Iyer, Raghunandan B; Kaps, Felix G; Wetzel, Jakob; Klopf, J Michael; Kravchenko, Ivan I; Wolf, Martin; Folland, Thomas G; Eng, Lukas M; Kehr, Susanne C; Alonso-Gonzalez, Pablo; Paarmann, Alexander; Caldwell, Joshua D

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

HMGCS1 变异体可导致脊柱僵硬综合征,在动物模型中可通过甲羟戊酸治疗治愈

Dofash Lein N H, Miles Lee B, Saito Yoshihiko, Rivas Eloy, Calcinotto Vanessa, Oveissi Sara, Serrano Rita J, Templin Rachel, Ramm Georg, Rodger Alison, Haywood Joel, Ingley Evan, Clayton Joshua S, Taylor Rhonda L, Folland Chiara L, Groth David, Hock Daniella H, Stroud David A, Gorokhova Svetlana, Donkervoort Sandra, Bönnemann Carsten G, Sud Malika, VanNoy Grace E, Mangilog Brian E, Pais Lynn, O'Donnell-Luria Anne, Madruga-Garrido Marcos, Scala Marcello, Fiorillo Chiara, Baratto Serena, Traverso Monica, Malfatti Edoardo, Bruno Claudio, Zara Federico, Paradas Carmen, Ogata Katsuhisa, Nishino Ichizo, Laing Nigel G, Bryson-Richardson Robert J, Cabrera-Serrano Macarena, Ravenscroft Gianina

Dispersion-Engineered Surface Phonon Polariton Metasurfaces for Tunable and Efficient Polarization Conversion

色散工程化表面声子极化子超表面用于可调谐和高效极化转换

Iyer, Raghunandan B; Park, Sang Hyun; Bangari, Ramachandra; Vaghefi Esfidani, S Maryam; Low, Tony; Folland, Thomas G

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

利用基因组、外显子组和panel测序数据集诊断漏诊的脊髓性肌萎缩症病例

Weisburd, Ben; Sharma, Rakshya; Pata, Villem; Reimand, Tiia; Ganesh, Vijay S; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; O'Heir, Emily; O'Leary, Melanie; Pais, Lynn; Stafki, Seth A; Daugherty, Audrey L; Folland, Chiara; Peric, Stojan; Fahmy, Nagia; Udd, Bjarne; Horáková, Magda; Łusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmüller, Hanns; Horvath, Rita; Bönnemann, Carsten G; Donkervoort, Sandra; Haliloğlu, Göknur; Herguner, Ozlem; Kang, Peter B; Ravenscroft, Gianina; Laing, Nigel; Scott, Hamish S; Töpf, Ana; Straub, Volker; Pajusalu, Sander; Õunap, Katrin; Tiao, Grace; Rehm, Heidi L; O'Donnell-Luria, Anne

Muscle Growth Is Very Strongly Correlated with Strength Gains after Lower Body Resistance Training: New Insight from Within-Participant Associations

下肢抗阻训练后肌肉增长与力量提升高度相关:来自参与者内部关联的新见解

Marques, Elisa A; Balshaw, Tom G; Funnell, Mark P; McDermott, Emmet J; Maeo, Sumiaki; James, Lewis J; Folland, Jonathan P

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.

CFL2 中的新型错义变异会影响 F-肌动蛋白解聚,并扩大 CFL2 相关肌病的疾病谱

Dofash Lein N H, Folland Chiara, Dyke Jason, Farhat Emna, Chaabouni Myriam, Miladi Najoua, Needham Merrilee, Lamont Phillipa J, Ashton Catherine, Ravenscroft Gianina

Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity

对 1027 个长读长基因组进行详细的串联重复序列等位基因分析,揭示了全基因组范围内的致病模式

Danzi, Matt C; Xu, Isaac R L; Fazal, Sarah; Dolzhenko, Egor; Pellerin, David; Weisburd, Ben; Reuter, Chloe; Sampson, Jacinda; Folland, Chiara; Wheeler, Matthew; O'Donnell-Luria, Anne; Wuchty, Stefan; Ravenscroft, Gianina; Eberle, Michael A; Zuchner, Stephan

Missense variants in TUBA4A cause myo-tubulinopathies

TUBA4A基因的错义变异会导致肌微管病

Johari, Mridul; Folland, Chiara; Saito, Yoshihiko; Oud, Machteld M; Parmar, Jevin M; Töpf, Ana; Kurbatov, Sergei; Ampleeva, Maria; Zakharova, Ekaterina Y; Chekmareva, Irina A; Shirokova, Ksenia S; Atiakshin, Dmitrii; Gardeitchik, Thatjana; Kamsteeg, Erik-Jan; Medici, Evita; Kaat, Laura Donker; Bruels, Christine C; Stafki, Seth A; Estrella, Elicia A; Littel, Hannah R; Kunkel, Louis M; Kang, Peter B; Osei-Owusu, Ikeoluwa; Pais, Lynn; O'Leary, Melaine; Austin-Tse, Christina; O'Donnell-Luria, Anne; Mangilog, Brian; Radio, Francesca Clementina; D'Amico, Adele; Ciolfi, Andrea; Tartaglia, Marco; Perrin, Aurélien; Van Goethem, Charles; Sole, Guilhem; Martin-Négrier, Marie-Laure; Cossée, Mireille; Genetti, Casie A; Valivullah, Zaheer M; Milic, Vedrana; Kovacevic, Gordana; Kosac, Ana; Moreno, Cristiane A M; Camelo, Clara Gontijo; Zanoteli, Edmar; Fahey, Michael C; Beggs, Alan H; Vissing, John; Straub, Volker; Savarese, Marco; Tasca, Giorgio; Voermans, Nicol; Laing, Nigel G; Udd, Bjarne; Nishino, Ichizo; Ravenscroft, Gianina