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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Transposable element-gene chimera cartography, origination and role in enhancing transcriptome plasticity

转座元件-基因嵌合体图谱、起源及其在增强转录组可塑性中的作用

Cheon, Youngseo; Alvstad, Erik Glen; Torre, Denis; Quach, Daniel Tu; Nguyen, Jennifer; Hyun, Kwangbeom; Zhou, Mingqi; Yu, Tianxiong; Liu, Liang; Yoon, Yoseop; Reese, Fairlie; Faraone, Lauren; Li, Yingcong; Arnold, Frederick J; Fstkchyan, Yesai S; Basu, Uttiya; Kvon, Evgeny; Valente, Enza Maria; Ho, Jessica Sook Yuin; Byun, Minji; Guccione, Ernesto; Shi, Yongsheng; Weng, Zhiping; Seldin, Marcus; Marazzi, Ivan

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport

SLC6A6基因变异导致牛磺酸转运受损的患者会出现早发性视网膜病变

Ullah, Mukhtar; Rehman, Atta Ur; Shetty, Madhur; Allen, Michael D; Ullah, Ehsan; Signorini, Sabrina G; des Roziers, Cyril Burin; Grijalva, Rosalie M; Rashid, Abdur; Munir, Asad; Porretta, Alessandra Pia; Valente, Enza Maria; Agather, Aime R; Dimopoulos, Ioannis; Hufnagel, Robert B; Malandain, Edouard; Coursimault, Juliette; Ansar, Muhammad; Antonarakis, Stylianos E; Superti-Furga, Andrea; Jan, Sanaullah; Brooks, Brian P; Calzetti, Giacomo; Guan, Bin; Quinodoz, Mathieu; Henry, L Keith; Rivolta, Carlo

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome

FSD1L基因的双等位基因变异会导致一种与L1综合征症状重叠的神经发育障碍。

Serpieri, Valentina; Vezain-Mouchard, Myriam; Orsi, Alessia; Lecointre, Maryline; Mazzotta, Concetta; Marguet, Florent; Garbelli, Anna; Marcorelles, Pascale; Celli, Ludovica; Goldenberg, Alice; De Mori, Roberta; Drouot, Nathalie; Petrizzelli, Francesco; Janin, François; Nicolas, Gaël; Smal, Noor; Condoluci, Claudia; Marini, Carla; Tran-Mau-Them, Frederic; Ruault, Valentin; Micalizzi, Alessia; Bione, Silvia; Mazza, Tommaso; Pichiecchio, Anna; Ginevrino, Monia; Weckhuysen, Sarah; Bedois, Alice; Desnous, Béatrice; Hermitte, Laurent; Rabie, Grace; Kanaan, Moien; Gonzalez, Bruno J; Sabbioneda, Simone; Laquerrière, Annie; Saugier-Veber, Pascale; Valente, Enza Maria

Plasma extracellular vesicles and phosphorylated tau 181 as early biomarkers of cognitive impairment in Alzheimer's dementia

血浆细胞外囊泡和磷酸化tau蛋白181作为阿尔茨海默病痴呆认知障碍的早期生物标志物

Brembati, Viviana; Crescenti, Daniela; Geviti, Andrea; Rossini, Elisa; Cazzaniga, Federico Angelo; Moda, Fabio; Zanier, Elisa R; Guerrera, Gisella; Battistini, Luca; Baiardi, Simone; Mandelli, Alessandra; Furlan, Roberto; Verde, Federico; Nacmias, Benedetta; Elia, Chiara Adriana; Malosio, Maria Luisa; Imarisio, Alberto; Guerini, Franca Rosa; Fenoglio, Chiara; Di Fonzo, Alessio; Biscetti, Leonardo; Squillario, Margherita; Berra, Silvia; Miraglia, Francesca; Rossini, Paolo Maria; Marra, Camillo; Vanacore, Nicola; Redolfi, Alberto; Perani, Daniela; Spadin, Patrizia; Cotelli, Maria; Cappa, Stefano; Caraglia, Naike; Vecchio, Fabrizio; Tiraboschi, Pietro; Piras, Federica; Frisoni, Giovanni B; Muscio, Cristina; Lodi, Raffaele; Parchi, Piero; Tagliavini, Fabrizio; Valente, Enza Maria; Forloni, Gianluigi; Ghidoni, Roberta

The interplay between GBA1 status and age of onset on cognitive, motor and non-motor outcomes in Parkinson's disease: multicenter cross-sectional study

GBA1状态与发病年龄对帕金森病认知、运动和非运动结局的影响:多中心横断面研究

Ledda, Claudia; Gallo, Silvia; Avenali, Micol; Artusi, Carlo Alberto; Imbalzano, Gabriele; Donetto, Francesca; Montanaro, Elisa; Romagnolo, Alberto; Mitrotti, Pierfrancesco; Gallo, Luca; De Micco, Rosa; Sant'Elia, Valeria; Siciliano, Mattia; Tessitore, Alessandro; Calandra-Buonaura, Giovanna; Giannini, Giulia; Sambati, Luisa; Lopiano, Leonardo; Valente, Enza Maria; Bozzali, Marco

Asymmetric Parietal Cortical Atrophy in a Patient with RAB39B-Associated Parkinsonism

RAB39B相关帕金森病患者的不对称性顶叶皮质萎缩

Gallo, Luca; Ben Mansour, Emna; Nicolosi, Silvia; Pichiecchio, Anna; Gana, Simone; Ben Sassi, Samia; Cristina, Silvano; Avenali, Micol; Valente, Enza Maria

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

TMEM17第二个跨膜结构域的错义变异会破坏其稳定性和功能,并导致广泛的纤毛病表型谱。

Boutaud, Lucile; Li, Chunmei; Moncler, Candice; Verlin, Laure; Garfa-Traoré, Meriem; Bourgon, Nicolas; Akbari, Dhruvin; Porée, Jeanne; Serpieri, Valentina; Panza, Marine; Haddad, Lynda; Nitschké, Patrick; Aziza, Jacqueline; Matt, Cristina; Valente, Enza Maria; Gargallo, Patricia; Dubucs, Charlotte; Attié-Bitach, Tania; Leroux, Michel R; Thomas, Sophie

Massive-scale single-nucleus multi-omics identifies novel rare noncoding drivers of Parkinson's disease

大规模单核多组学研究发现帕金森病的新型罕见非编码驱动基因

Menon, Shreya; Turner, Adam W; Chang, Serena H; Johnson, Alia W; Chang, Heather H; Shah, Aayushi J; Zeng, Youjie; Strohlein, Colleen E; Kampman, Lucas; Colston, Courtney; Kozlenkov, Alexey; Dracheva, Stella; Avenali, Micol; Palermo, Giovanni; Ceravolo, Roberto; Valente, Enza Maria; Gabbert, Carolin; Trinh, Joanne; Serrano, Geidy E; Beach, Thomas G; Shulman, Joshua M; Blauwendraat, Cornelis; Montine, Thomas J; Fang, Zih-Hua; Belloy, Michael E; Corces, M Ryan

Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a GBA1 Pathogenic Variant

帕金森病患者接受深部脑刺激治疗的长期运动和认知结果(伴有GBA1致病变异)

Avenali, Micol; Artusi, Carlo Alberto; Cilia, Roberto; Giannini, Giulia; Cuconato, Giada; Albanese, Alberto; Golfrè Andreasi, Nico; Antenucci, Pietro; Antonini, Angelo; Avanzino, Laura; Baldelli, Luca; Bentivoglio, Anna Rita; Bove, Francesco; Bozzali, Marco; Calandra-Buonaura, Giovanna; Cani, Ilaria; Carelli, Valerio; Cavallieri, Francesco; Cocco, Antoniangela; Cogiamanian, Filippo; Colucci, Fabiana; Cortelli, Pietro; De Biase, Alesssandro; Di Biasio, Francesca; Di Fonzo, Alessio; D'Onofrio, Valentina; Eleopra, Roberto; Elia, Antonio Emanuele; Fioravanti, Valentina; Genovese, Danilo; Guerra, Andrea; Imarisio, Alberto; Ledda, Claudia; Liccari, Marco; Longo, Chiara; Lopiano, Leonardo; Malaguti, Maria Chiara; Malito, Rachele; Mameli, Francesca; Marino, Silvia; Minardi, Raffaella; Mitrotti, Pierfrancesco; Monfrini, Edoardo; Pacchetti, Claudio; Piano, Carla; Rispoli, Vittorio; Rizzone, Mario Giorgio; Romito, Luigi Michele; Sambati, Luisa; Sensi, Mariachiara; Sorbera, Chiara; Spagnolo, Francesca; Tassorelli, Cristina; Valentino, Francesca; Valzania, Franco; Zangaglia, Roberta; Zibetti, Maurizio; Valente, Enza Maria