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

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

由回文序列介导的16p13.3三倍体可导致一种可识别的神经退行性疾病,并伴有共济失调。

Fasham, James; Rankin, Julia; Schot, Rachel; White, Susan M; Bell, Katrina M; Wakeling, Matthew N; Mallin, Lucy J; Shah, Alex; de Silva, Michelle G; Francis, David I; Walsh, Maie; Jones, Emily E; Vijayakumar, Kayal; Johnson, Katie; Sansbury, Francis H; Te Water Naudé, Johann; Giunti, Paola; Hadjivassiliou, Marios; Nemeth, Andrea H; Tofaris, George K; Rinaldi, Carlo; Banos-Pinero, Benito; Selikhva, Marianna; Ubeyratna, Nishanka; Kievit, Anneke; Sleutels, Frank; van Giessen, Joey; Barakat, Tahsin Stefan; Hall, Timothy S; Whone, Alan; Thomas, Eleanor; Leslie, Joseph S; Bamford, Rosemary A; Jeffries, Aaron R; Lord, Jenny; Walker, Susan; van Ham, Tjakko J; Hill, Sue L; McGavin, Lucy; Parrish, Andrew; Crosby, Andrew H; Baple, Emma L; Pagnamenta, Alistair T

Optimal time between decompressive craniectomy and cranioplasty to reduce the risk of complications: A retrospective study

为降低并发症风险,确定减压性颅骨切除术与颅骨成形术之间的最佳时间间隔:一项回顾性研究

Stretti, Federica; Parvin, Richard; Fariña Nuñez, Mateo Tomas; De Trizio, Ignazio; Barbagallo, Massimo; Tatsch, Laura; Sarnthein, Johannes; Esposito, Giuseppe; Di Serio, Clelia; Pagnamenta, Alberto; Brandi, Giovanna

'Team Speech Sounds'-How Speech and Language Therapists Work With Parents of Young Children With Speech Sound Disorder: A Focus Group Study

“语音团队”——言语治疗师如何与言语障碍幼儿的家长合作:一项焦点小组研究

Pritchard, Katherine; Stojanovik, Vesna; Titterington, Jill; Pagnamenta, Emma

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library

对5412名罕见病患者进行基于血液的RNA测序,在国家基因组研究图书馆中发现了新的候选诊断。

Lord, Jenny; Pagnamenta, Alistair T; Vestito, Letizia; Walker, Susan; Oquendo, Carolina Jaramillo; McGuigan, Anthony Ef; Ho, Alexander; Odhams, Christopher; Jacobsen, Julius Ob; Mehta, Sarju; Reid, Evan; O'Driscoll, Mary; Watson, Christopher M; Crinnion, Laura A; Robinson, Rachel L; Musgrave, Hannah; Martin, Richard J; James, Terena P; Ross, Mark T; Kyritsi, Marianna; Carnielli, Leonardo; Walker, Nicholas; Vucenovic, Dunja; Maheswari, Uma; Baralle, Francisco E; Taylor, Jenny C; Ellingford, Jamie M; Kasperaviciute, Dalia; Hoa, Lily; Elgar, Greg; Brown, Matthew A; Smedley, Damian; Baralle, Diana

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

一种进行性RBL2相关神经发育障碍的临床和遗传特征

Aughey, Gabriel N; Cali, Elisa; Maroofian, Reza; Zaki, Maha S; Pagnamenta, Alistair T; Ali, Zafar; Abdulllah, Uzma; Rahman, Fatima; Menzies, Lara; Shafique, Anum; Suri, Mohnish; Roze, Emmanuel; Aguennouz, Mohammed; Ghizlane, Zouiri; Saadi, Saadia Maryam; Fatima, Ambrin; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Morel, Godelieve; Robin, Stephanie; McFarland, Robert; Altunoglu, Umut; Kraus, Verena; Shoukier, Moneef; Murphy, David; Flemming, Kristina; Yttervik, Hilde; Rhouda, Hajar; Lesca, Gaetan; Chatron, Nicolas; Rossi, Massimiliano; Murtaza, Bibi Nazia; Ur Rehman, Mujaddad; Lord, Jenny; Giacopuzzi, Edoardo; Hayat, Azam; Siraj, Muhammad; Shervin Badv, Reza; Seo, Go Hun; Beetz, Christian; Kayserili, Hülya; Krioulie, Yamna; Chung, Wendy K; Naz, Sadaf; Maqbool, Shazia; Chandler, Kate E; Kershaw, Christopher J; Wright, Thomas; Banka, Siddharth; Gleeson, Joseph G; Taylor, Jenny C; Efthymiou, Stephanie; Baig, Shahid Mahmood; Severino, Mariasavina; Jepson, James E C; Houlden, Henry

Ide Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory Study.

Ide 拷贝数变异不影响 2 个 C57BL/6J 小鼠模型和人类的中风严重程度:一项探索性研究

Foddis Marco, Blumenau Sonja, Mueller Susanne, Messerschmidt Clemens, Rocca Clarissa, Pagnamenta Alistair T, Winek Katarzyna, Endres Matthias, Meisel Andreas, Tucci Arianna, Bras Jose, Guerreiro Rita, Beule Dieter, Dirnagl Ulrich, Sassi Celeste

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

双等位基因 KICS2 突变会损害 KICSTOR 复合物介导的 mTORC1 调节,导致智力障碍和癫痫

Buchert Rebecca, Burkhalter Martin D, Huridou Chrisovalantou, Sofan Linda, Roser Timo, Cremer Kirsten, Alvi Javeria Raza, Efthymiou Stephanie, Froukh Tawfiq, Gulieva Sughra, Guliyeva Ulviyya, Hamdallah Moath, Holder-Espinasse Muriel, Kaiyrzhanov Rauan, Klingler Doreen, Koko Mahmoud, Matthies Lars, Park Joohyun, Sturm Marc, Velic Ana, Spranger Stephanie, Sultan Tipu, Engels Hartmut, Lerche Holger, Houlden Henry, Pagnamenta Alistair T, Borggraefe Ingo, Weber Yvonne, Bonnen Penelope E, Maroofian Reza, Riess Olaf, Weber Jonasz J, Philipp Melanie, Haack Tobias B

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

ACTL6B相关常染色体隐性和显性遗传性脑发育障碍的临床和遗传学特征

Cali, Elisa; Quirin, Tania; Rocca, Clarissa; Efthymiou, Stephanie; Riva, Antonella; Marafi, Dana; Zaki, Maha S; Suri, Mohnish; Dominguez, Roberto; Elbendary, Hasnaa M; Alavi, Shahryar; Abdel-Hamid, Mohamed S; Morsy, Heba; Mau-Them, Frederic Tran; Nizon, Mathilde; Tesner, Pavel; Ryba, Lukáš; Zafar, Faisal; Rana, Nuzhat; Saadi, Nebal W; Firoozfar, Zahra; Gencpinar, Pinar; Unay, Bulent; Ustun, Canan; Bruel, Ange-Line; Coubes, Christine; Stefanich, Jennifer; Sezer, Ozlem; Agolini, Emanuele; Novelli, Antonio; Vasco, Gessica; Lettori, Donatella; Milh, Mathieu; Villard, Laurent; Zeidler, Shimriet; Opperman, Henry; Strehlow, Vincent; Issa, Mahmoud Y; El Khassab, Hebatallah; Chand, Prem; Ibrahim, Shahnaz; Rashidi-Nezhad, Ali; Miryounesi, Mohammad; Larki, Pegah; Morrison, Jennifer; Cristian, Ingrid; Thiffault, Isabelle; Bertsch, Nicole L; Noh, Grace J; Pappas, John; Moran, Ellen; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Hosseini, Susan; Abbaszadegan, Mohammad Reza; Caumes, Roseline; Vissers, Lisenka E L M; Neshatdoust, Maedeh; Montazer Zohour, Mostafa; El Fahime, Elmostafa; Canavati, Christina; Kamal, Lara; Kanaan, Moien; Askander, Omar; Voinova, Victoria; Levchenko, Olga; Haider, Shahzhad; Halbach, Sara S; Elias Maia, Rayana; Mansoor, Salehi; Jain, Vivek; Tawde, Sanjukta; Challa, Viveka Santhosh R; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Victor, Lucas Alves; Pinero-Banos, Benito; Hague, Jennifer; ElAwady, Heba Ahmed; Maria de Miranda Henriques-Souza, Adelia; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Idkaidak, Sara; Alqarajeh, Firas; Atawneh, Osama; Mor-Shaked, Hagar; Harel, Tamar; Zifarelli, Giovanni; Bauer, Peter; Kok, Fernando; Kitajima, Joao Paulo; Monteiro, Fabiola; Josahkian, Juliana; Lesca, Gaetan; Chatron, Nicolas; Ville, Dorothe; Murphy, David; Neul, Jeffrey L; Mullegama, Sureni V; Begtrup, Amber; Herman, Isabella; Mitani, Tadahiro; Posey, Jennifer E; Tay, Chee Geap; Javed, Iram; Carr, Lucinda; Kanani, Farah; Beecroft, Fiona; Hane, Lee; Abdelkreem, Elsayed; Macek, Milan; Bispo, Luciana; Elmaksoud, Marwa Abd; Hashemi-Gorji, Farzad; Pehlivan, Davut; Amor, David J; Jamra, Rami Abou; Chung, Wendy K; Ghayoor Karimiani, Eshan; Campeau, Philippe M; Alkuraya, Fowzan S; Pagnamenta, Alistair T; Gleeson, Joseph G; Lupski, James R; Striano, Pasquale; Moreno-De-Luca, Andres; Lafontaine, Denis L J; Houlden, Henry; Maroofian, Reza

Empathy in mild cognitive impairment: a preliminary clinical comparative study in Southern Switzerland using the interpersonal reactivity index (IRI) and the story-based empathy task (SET)

轻度认知障碍患者的同理心:瑞士南部一项使用人际反应指数(IRI)和基于故事的同理心任务(SET)的初步临床比较研究

Arnaud, L; Morellini, L; Rege-Colet, L G; Pagnamenta, A; Fontana, E; Lissi, M; Morese, R; Sacco, L

The transfusion of a single unit of red blood cells significantly increases total hospital costs in adult, non-cardiac surgical patients

对于成年非心脏手术患者而言,输注一单位红细胞会显著增加住院总费用。

Saporito, Andrea; Pagnamenta, Alberto; Previsdomini, Marco; La Regina, Davide; Ruinelli, Lorenzo; Ferrari, Paolo; Mongelli, Francesco