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Huu Phuc Nguyen

department of human genetics

46H指数
276论文数
1.7W被引数
收录论文 103
发表时间
Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders光学基因组作图提高了综合征性遗传病和神经遗传病中结构变异的检测与表征
err2026-09-10
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errOAAI
errRosa Catalina Lederbogen; Sabine Hoffjan; Cornelia Köhler; Charlotte Thiels; Ulrike Angelika Mau-Holzmann; Sylke Singer; Sabrina Schreiber; Anne Purczeld; Rebecca Buchert; Maria Viktorovna Yusenko; Hoa Huu Phuc Nguyen; Wanda Maria Gerding
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Histone H3 Acetylation at Sox1ot Promoter by Targeted Epigenome Editing Augments Proliferation of Intermediate Progenitors in Developing CortexSox1ot启动子处的组蛋白H3乙酰化通过靶向表观基因组编辑增强发育皮质中中间祖细胞的增殖
err2026-07-27
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errGodwin Sokpor; Pauline Antonie Ulmke; Hoang Duy Nguyen; Linh Pham; Princy Kakani; Van Trung Chu; Sebastian J. Arnold; Beate Brand-Saberi; Huu Phuc Nguyen; Tran Tuoc
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The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington diseaseDNA/RNA自噬蛋白SIDT2作为亨廷顿病中一种新型的神经病理学标志物
err2026-02-24
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errOAAI
errSanaz Gabery; Sofia Bergh; Chrisovalantou Huridou; Rachel Y. Cheong; Barbara Baldo; Paul Günther Scheunemann; Marie-Louisa Schoebel; Linda Holmquist Mengelbier; Elisabet Englund; Catriona McLean; Carsten Saft; Deniz Kirik; Maria Björkqvist; Glenda Halliday; Elisabeth Petrasch-Parwez; Huu Phuc Nguyen; Jonasz Jeremiasz Weber; Åsa Petersén
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Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings作者更正: 将下一代表型整合到超早期疾病患者的国家框架中,可改善遗传诊断并产生新的分子发现
err2025-06-24
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errAxel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner
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The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort在不同的HD队列中,同义HTT中断丢失和中断重复变体的频率和临床影响
err2024-11-01
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PREAI
errDawson, Jessica; Kay, Chris; Black, Hailey Findlay; Bortnick, Stephanie; Javier, Kyla; Xia, Qingwen; Sandhu, Akshdeep; Buchanan, Christina; Hogg, Virginia; Chang, Florence C. F.; Goto, Jun; Arning, Larissa; Saft, Carsten; Bijlsma, Emilia K.; Nguyen, Huu P.; Roxburgh, Richard; Hayden, Michael R.
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Ion Channel Diseases as a Cause of Sudden Cardiac Death in Young People
err2024-10-04
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PREAI
errEl-Battrawy, Ibrahim; Muegge, Andreas; Akin, Ibrahim; Nguyen, Huu Phuc; Milting, Hendrik; Aweimer, Assem
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Phenotypic analysis of ataxia in spinocerebellar ataxia type 6 mice using DeepLabCut
err2024-04-13
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errPiotrowski, Dennis; Clemensson, Erik K. H.; Nguyen, Huu Phuc; Mark, Melanie D.
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Optical Genome Mapping Reveals Genomic Alterations upon Gene Editing in hiPSCs: Implications for Neural Tissue Differentiation and Brain Organoid Research
errCELLS
IF5.2
err2024-03-14
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errVillarejo, Lucia Gallego; Gerding, Wanda M.; Bachmann, Lisa; Hardt, Luzie H. I.; Bormann, Stefan; Nguyen, Huu Phuc; Mueller, Thorsten
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Intravenous MSC-Treatment Improves Impaired Brain Functions in the R6/2 Mouse Model of Huntington's Disease via Recovered Hepatic Pathological Changes
errCELLS
IF5.2
err2024-03-07
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errOAAI
errYu-Taeger, Libo; El-Ayoubi, Ali; Qi, Pengfei; Danielyan, Lusine; Nguyen, Hoa Huu Phuc
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Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome
err2024-02-21
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errOAAI
errDalene Skarping, Karin; Arning, Larissa; Petersen, Asa; Nguyen, Huu Phuc; Gebre-Medhin, Samuel
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Loss-of-function of GNAL dystonia gene impairs striatal dopamine receptors-mediated adenylyl cyclase/ cyclic AMP signaling pathway
err2024-02-01
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errEl Atiallah, Ilham; Ponterio, Giulia; Meringolo, Maria; Martella, Giuseppina; Sciamanna, Giuseppe; Tassone, Annalisa; Montanari, Martina; Mancini, Maria; Castagno, Antonio N.; Yu-Taeger, Libo; Nguyen, Hoa Huu Phuc; Bonsi, Paola; Pisani, Antonio
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Differential diagnosis of chorea (guidelines of the German Neurological Society)
err2023-11-23
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errSaft, Carsten; Burgunder, Jean-Marc; Dose, Matthias; Jung, Hans Heinrich; Katzenschlager, Regina; Priller, Josef; Nguyen, Huu Phuc; Reetz, Kathrin; Reilmann, Ralf; Seppi, Klaus; Landwehrmeyer, Georg Bernhard
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Editorial: The role of posttranslational modifications in polyglutamine diseases
err2023-08-15
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errWeber, Jonasz Jeremiasz; Costa, Maria do Carmo; Scaglione, K. Matthew; Todi, Sokol V.; Nguyen, Huu Phuc
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Implications of specific lysine residues within ataxin-3 for the molecular pathogenesis of Machado-Joseph disease
err2023-05-19
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errSena, Priscila Pereira; Weber, Jonasz Jeremiasz; Bayezit, Sercan; Saup, Rafael; Eltemur, Rana Dilara Incebacak; Li, Xiaoling; Velic, Ana; Jung, Jaqueline; Macek, Boris; Nguyen, Huu Phuc; Riess, Olaf; Schmidt, Thorsten
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Evidences for Mutant Huntingtin Inducing Musculoskeletal and Brain Growth Impairments via Disturbing Testosterone Biosynthesis in Male Huntington Disease Animals
errCELLS
IF5.2
err2022-11-25
err4
errOAAI
errYu-Taeger, Libo; Novati, Arianna; Weber, Jonasz Jeremiasz; Singer-Mikosch, Elisabeth; Pabst, Ann-Sophie; Cheng, Fubo; Saft, Carsten; Koenig, Jennifer; Ellrichmann, Gisa; Heikkinen, Taneli; Pouladi, Mahmoud A.; Riess, Olaf; Nguyen, Huu Phuc
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