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

Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia

在遗传性痉挛性截瘫的果蝇模型中,Fic 的缺失会导致进行性神经退行性变。

Amanda G Lobato ,Natalie Ortiz-Vega ,Tijana Canic ,Xianzun Tao ,Nika Bucan ,Kai Ruan ,Adriana P Rebelo ,Rebecca Schule ,Stephan Zuchner ,Sheyum Syed ,R Grace Zhai

Autologous regulatory T-cell transfer in refractory ulcerative colitis with concomitant primary sclerosing cholangitis

自体调节性 T 细胞转移在难治性溃疡性结肠炎伴原发性硬化性胆管炎中的应用

Caroline Voskens, Diane Stoica, Marita Rosenberg, Francesco Vitali, Sebastian Zundler, Marion Ganslmayer, Heike Knott, Manuel Wiesinger, Jutta Wunder, Mirko Kummer, Britta Siegmund, Elisabeth Schnoy, Timo Rath, Arndt Hartmann, Holger Hackstein, Beatrice Schuler-Thurner, Carola Berking, Gerold Schule

Focal structural variants revealed by whole genome sequencing disrupt the histone demethylase KDM4C in B-cell lymphomas

全基因组测序揭示的局灶性结构变异会破坏B细胞淋巴瘤中的组蛋白去甲基化酶KDM4C。

Lopez, Cristina; Schleussner, Nikolai; Bernhart, Stephan H; Kleinheinz, Kortine; Sungalee, Stephanie; Sczakiel, Henrike L; Kretzmer, Helene; Toprak, Umut H; Glaser, Selina; Wagener, Rabea; Ammerpohl, Ole; Bens, Susanne; Giefing, Maciej; Sanchez, Juan C Gonzalez; Apic, Gordana; Hubschmann, Daniel; Janz, Martin; Kreuz, Markus; Mottok, Anja; Muller, Judith M; Seufert, Julian; Hoffmann, Steve; Korbel, Jan O; Russell, Robert B; Schule, Roland; Trumper, Lorenz; Klapper, Wolfram; Radlwimmer, Bernhard; Lichter, Peter; Kuppers, Ralf; Schlesner, Matthias; Mathas, Stephan; Siebert, Reiner

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

在一项纳入241名SPG7患者的研究中,截瘫基因的缺失导致痉挛而非共济失调。

Coarelli, Giulia; Schule, Rebecca; van de Warrenburg, Bart P C; De Jonghe, Peter; Ewenczyk, Claire; Martinuzzi, Andrea; Synofzik, Matthis; Hamer, Elisa G; Baets, Jonathan; Anheim, Mathieu; Schöls, Ludger; Deconinck, Tine; Masrori, Pegah; Fontaine, Bertrand; Klockgether, Thomas; D'Angelo, Maria Grazia; Monin, Marie-Lorraine; De Bleecker, Jan; Migeotte, Isabelle; Charles, Perrine; Bassi, Maria Teresa; Klopstock, Thomas; Mochel, Fanny; Ollagnon-Roman, Elisabeth; D'Hooghe, Marc; Kamm, Christoph; Kurzwelly, Delia; Papin, Melanie; Davoine, Claire-Sophie; Banneau, Guillaume; Tezenas du Montcel, Sophie; Seilhean, Danielle; Brice, Alexis; Duyckaerts, Charles; Stevanin, Giovanni; Durr, Alexandra

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report

CReATe联盟中一名ALS-FTD患者OPTN复合杂合变异的鉴定:病例报告

Pottier, Cyril; Rampersaud, Evadnie; Baker, Matt; Wu, Gang; Wuu, Joanne; McCauley, Jacob L; Zuchner, Stephan; Schule, Rebecca; Bermudez, Christin; Hussain, Sumaira; Cooley, Anne; Wallace, Marielle; Zhang, Jinghui; Taylor, J Paul; Benatar, Michael; Rademakers, Rosa

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

鸟氨酸代谢异常会导致显性和隐性遗传性痉挛性截瘫

Coutelier, Marie; Goizet, Cyril; Durr, Alexandra; Habarou, Florence; Morais, Sara; Dionne-Laporte, Alexandre; Tao, Feifei; Konop, Juliette; Stoll, Marion; Charles, Perrine; Jacoupy, Maxime; Matusiak, Raphaël; Alonso, Isabel; Tallaksen, Chantal; Mairey, Mathilde; Kennerson, Marina; Gaussen, Marion; Schule, Rebecca; Janin, Maxime; Morice-Picard, Fanny; Durand, Christelle M; Depienne, Christel; Calvas, Patrick; Coutinho, Paula; Saudubray, Jean-Marie; Rouleau, Guy; Brice, Alexis; Nicholson, Garth; Darios, Frédéric; Loureiro, José L; Zuchner, Stephan; Ottolenghi, Chris; Mochel, Fanny; Stevanin, Giovanni

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

BICD2基因突变引起的脊髓性肌萎缩症的表型和分子机制研究

Rossor, Alexander M; Oates, Emily C; Salter, Hannah K; Liu, Yang; Murphy, Sinead M; Schule, Rebecca; Gonzalez, Michael A; Scoto, Mariacristina; Phadke, Rahul; Sewry, Caroline A; Houlden, Henry; Jordanova, Albena; Tournev, Iyailo; Chamova, Teodora; Litvinenko, Ivan; Zuchner, Stephan; Herrmann, David N; Blake, Julian; Sowden, Janet E; Acsadi, Gyuda; Rodriguez, Michael L; Menezes, Manoj P; Clarke, Nigel F; Auer Grumbach, Michaela; Bullock, Simon L; Muntoni, Francesco; Reilly, Mary M; North, Kathryn N

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

回复:BICD2基因中的p.Ser107Leu突变是导致远端脊髓性肌萎缩症的“热点”突变。

Rossor, Alexander M; Oates, Emily C; Salter, Hannah K; Liu, Yang; Murphy, Sinead M; Schule, Rebecca; Gonzales, Michael A; Scoto, Mariacristina; Phadke, Rahul; Sewry, Caroline A; Houlden, Henry; Jordanova, Albena; Tournev, Iyailo; Chamova, Teodora; Litvinenko, Ivan; Zuchner, Stephan; Herrmann, David N; Blake, Julian; Sowden, Janet E; Acsadi, Gyuda; Rodriguez, Michael L; Menezes, Manoj P; Clarke, Nigel F; Auer Grumbach, Michaela; Bullock, Simon L; Muntoni, Francesco; Reilly, Mary M; North, Kathryn N

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

突变筛查揭示了新的变异,并扩展了与 DYNC1H1 相关的表型

Strickland, Alleene V; Schabhüttl, Maria; Offenbacher, Hans; Synofzik, Matthis; Hauser, Natalie S; Brunner-Krainz, Michaela; Gruber-Sedlmayr, Ursula; Moore, Steven A; Windhager, Reinhard; Bender, Benjamin; Harms, Matthew; Klebe, Stephan; Young, Peter; Kennerson, Marina; Garcia, Avencia Sanchez Mejias; Gonzalez, Michael A; Züchner, Stephan; Schule, Rebecca; Shy, Michael E; Auer-Grumbach, Michaela

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

BICD2基因突变会导致显性遗传性先天性脊髓性肌萎缩症和遗传性痉挛性截瘫。

Oates, Emily C; Rossor, Alexander M; Hafezparast, Majid; Gonzalez, Michael; Speziani, Fiorella; MacArthur, Daniel G; Lek, Monkol; Cottenie, Ellen; Scoto, Mariacristina; Foley, A Reghan; Hurles, Matthew; Houlden, Henry; Greensmith, Linda; Auer-Grumbach, Michaela; Pieber, Thomas R; Strom, Tim M; Schule, Rebecca; Herrmann, David N; Sowden, Janet E; Acsadi, Gyula; Menezes, Manoj P; Clarke, Nigel F; Züchner, Stephan; Muntoni, Francesco; North, Kathryn N; Reilly, Mary M