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

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model

小鼠模型中KPTN相关疾病的临床谱和神经发育发病机制

Rawlins, Lettie E; Iffland, Philip H 2nd; Page, John; Flessner, Rebecca Z; Elziny, Soad M; Sbornova, Irina; Babus, Janice K; Bruckmeier, Sophie R; Parikh, Ria; Verhoeven, Merel; Fasham, James; Leslie, Joseph S; Caswell, Richard; Ubeyratna, Nishanka; Wenger, Olivia; Scott, Ethan M; Schreiber, John; Syrbe, Steffen; Klabunde-Cherwon, Annick; Owens, Martina; Crosby, Andrew H; Baple, Emma L; Crino, Peter B

Battle of the Bonds: Training's Impact on Dental Adhesive Use in Undergraduate and Continuing Education

粘合剂之战:培训对本科生和继续教育中牙科粘合剂使用的影响

Gosselin, Sophie; Dahan, Lenny; Raux, Frederic; Le-Goff, Stephane; Abdel-Gawad, Sarah; Gouze, Helene; D'Agostino, Maria-Antonietta; Fasham, Timothy; Dursun, Elisabeth; Bourdageau, Emmanuel; Smail, Yasmine; Attal, Jean-Pierre; Derbanne, Mathieu A; François, Philippe

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission

SLC4A10 突变导致与 GABA 能传递受损相关的神经系统疾病

James Fasham, Antje K Huebner, Lutz Liebmann, Reham Khalaf-Nazzal, Reza Maroofian, Nderim Kryeziu, Saskia B Wortmann, Joseph S Leslie, Nishanka Ubeyratna, Grazia M S Mancini, Marjon van Slegtenhorst, Martina Wilke, Tobias B Haack, Hanan E Shamseldin, Joseph G Gleeson, Mohamed Almuhaizea, Imad Dweika

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

TMEM63C 突变导致线粒体形态缺陷并导致遗传性痉挛性截瘫

Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, Amna Mohammed Al-Futaisi, Fathiya Al-Murshedi, Joanna Kennedy, Jacob O Day, Thomas Courtin, Aisha Al-Khayat, Hamid Galedari, Neda Mazaheri, Margherita Protasoni, Mark Johnson, Joseph S Leslie, Claire G Salter, Lettie E Rawlins, James Fasham, Almun

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder

CAMSAP1双等位基因变异会导致临床上可识别的神经元迁移障碍。

Khalaf-Nazzal, Reham; Fasham, James; Inskeep, Katherine A; Blizzard, Lauren E; Leslie, Joseph S; Wakeling, Matthew N; Ubeyratna, Nishanka; Mitani, Tadahiro; Griffith, Jennifer L; Baker, Wisam; Al-Hijawi, Fida'; Keough, Karen C; Gezdirici, Alper; Pena, Loren; Spaeth, Christine G; Turnpenny, Peter D; Walsh, Joseph R; Ray, Randall; Neilson, Amber; Kouranova, Evguenia; Cui, Xiaoxia; Curiel, David T; Pehlivan, Davut; Akdemir, Zeynep Coban; Posey, Jennifer E; Lupski, James R; Dobyns, William B; Stottmann, Rolf W; Crosby, Andrew H; Baple, Emma L

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

阐明 HYAL2 缺陷的临床表现和分子基础

James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G Farrow, Isabelle Thiffault, Jennifer Kussman, Dihong Zhou, Rick Hemming, Kenneth Zahka, Barry A Chioza, Lettie E Rawlins, Olivia K Wenger, Adam C Gunning, Simone Pizzi, Roberta Onesimo, Giuseppe Zampino, Emily Barker, Natas

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

双等位基因DAW1变异会导致一种运动性纤毛病,其特征是侧向性缺陷和轻微的纤毛摆动异常。

Leslie, Joseph S; Hjeij, Rim; Vivante, Asaf; Bearce, Elizabeth A; Dyer, Laura; Wang, Jiaolong; Rawlins, Lettie; Kennedy, Joanna; Ubeyratna, Nishanka; Fasham, James; Irons, Zoe H; Craig, Samuel B; Koenig, Julia; George, Sebastian; Pode-Shakked, Ben; Bolkier, Yoav; Barel, Ortal; Mane, Shrikant; Frederiksen, Kathrine K; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Lorentzen, Esben; Norris, Dominic P; Anikster, Yair; Omran, Heymut; Grimes, Daniel T; Crosby, Andrew H; Baple, Emma L

CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago

巴基斯坦裔视网膜色素变性家族中CLCC1 c.75C>A突变可能起源于2000-5000年前的单一创始人突变。

Ma, Yan; Wang, Xun; Shoshany, Nadav; Jiao, Xiaodong; Lee, Adrian; Ku, Gregory; Baple, Emma L; Fasham, James; Nadeem, Raheela; Naeem, Muhammad Asif; Riazuddin, Sheikh; Riazuddin, S Amer; Crosby, Andrew H; Hejtmancik, J Fielding

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

双等位基因PI4KA变异会导致神经系统疾病、肠道疾病和免疫系统疾病。

Salter, Claire G; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A; Ferla, Matteo P; Chioza, Barry A; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Ward Melver, Catherine; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew N; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Walsh Vockley, Catherine; Butte, Manish J; Acar, Utkucan; van der Knaap, Marjo S; Korenke, G Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H; Crosby, Andrew H; De Camilli, Pietro; Wolf, Nicole I; Baple, Emma L