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H

Holger Hengel

university of tubingen
H指数:26
被引数:2,136

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Single-nucleotide polymorphism–directed design of allele-specific antisense oligonucleotides for spinocerebellar ataxia type 3

单核苷酸多态性指导下的脊髓小脑共济失调3型等位基因特异性反义寡核苷酸设计

Science Translational Medicine
IF14.6
2026-10-210
PRE
Jacob Helm; Elena Buena-Atienza; Clemens M. Sauter; Linus Wiora; Melanie Kraft; Yvonne Schelling; Jakob Admard; Jeannette Hübener-Schmid; Thomas Klockgether; Matthis Synofzik; Luís Pereira de Almeida; Mafalda Raposo; Paola Giunti; Hector Garcia-Moreno; Magda M. Santana; Jennifer Faber; Holger Hengel; Nicolas Casadei; Ludger Schöls; Stefan Hauser
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

CAPN1激活因子CD99L2的功能缺失变异导致X连锁痉挛性共济失调

Nature Communications
IF15.7
2026-02-140
OAAI
Benita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. Haack
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy

ARSA变体与认知能力下降及异染性脑白质营养不良中运动功能的长期维持相关

Journal of Inherited Metabolic Disease
IF3.8
2025-08-020
OA
Shanice Beerepoot; Daphne H. Schoenmakers; Francesca Fumagalli; Samuel Groeschel; Ludger Schöls; Raphael Schiffmann; Sheila Wong; Odile Boespflug-Tanguy; Caroline Sevin; Yann Nadjar; Annette Bley; Fanny Mochel; Morten A. Horn; Cristina Baldoli; Sara Locatelli; Holger Hengel; Lucia Laugwitz; Carla E. M. Hollak; Volkmar Gieselmann; Marjo S. van der Knaap; Nicole I. Wolf
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

杂合的UCHL1功能丧失变体导致神经退行性疾病，伴有痉挛，共济失调，神经病和视神经萎缩

GENETICS IN MEDICINE
IF6.2
2022-10-0111
OAAI
Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke J. H.; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger
Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity

脊髓小脑共济失调3型的生活方式特征及其与疾病严重程度的关联

MOVEMENT DISORDERS
IF7.6
2021-10-298
OA
Hengel, Holger; Martus, Peter; Faber, Jennifer; Garcia-Moreno, Hector; Solanky, Nita; Giunti, Paola; Klockgether, Thomas; Reetz, Kathrin; van de Warrenburg, Bart P.; de Almeida, Luis Pereira; Santana, Magda M.; Januario, Cristina; Silva, Patrick; Thieme, Andreas; Infante, Jon; de Vries, Jeroen; Lima, Manuela; Ferreira, Ana F.; Bushara, Khalaf; Jacobi, Heike; Onyike, Chiadi; Schmahmann, Jeremy D.; Huebener-Schmid, Jeannette; Synofzik, Matthis; Schoels, Ludger
Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood

多谷氨酰胺扩展Ataxin-3: 外周血中脊髓小脑性共济失调3型的目标参与标志物

MOVEMENT DISORDERS
IF7.6
2021-08-1615
OAAI
Huebener-Schmid, Jeannette; Kuhlbrodt, Kirsten; Peladan, Julien; Faber, Jennifer; Santana, Magda M.; Hengel, Holger; Jacobi, Heike; Reetz, Kathrin; Garcia-Moreno, Hector; Raposo, Mafalda; van Gaalen, Judith; Infante, Jon; Steiner, Katharina M.; de Vries, Jeroen; Verbeek, Marcel M.; Giunti, Paola; Pereira de Almeida, Luis; Lima, Manuela; van de Warrenburg, Bart; Schoels, Ludger; Klockgether, Thomas; Synofzik, Matthis; Riess, Olaf
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-06-0111
OAAI
Hengel, Holger; Hannan, Shabab B.; Dyack, Sarah; MacKay, Sara B.; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S.; Alzaidan, Hamad; Alsaif, Hessa S.; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R.; Gleeson, Joseph J.; Dehghani, Mohammadreza; Mehrjardi, Mohammad Y., V; Sherr, Elliott H.; Parks, Kendall C.; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A.; Pagnamenta, Alistair T.; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Riess, Angelika; Haack, Tobias B.; Naegele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schoels, Ludger
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery (vol 28, pg 1034, 2020)
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2021-05-281
OAAI
Hengel, Holger; Buchert, Rebecca; Sturm, Marc; Haack, Tobias B.; Schelling, Yvonne; Mahajnah, Muhammad; Sharkia, Rajech; Azem, Abdussalam; Balousha, Ghassan; Ghanem, Zaid; Falana, Mohammed; Balousha, Osama; Ayesh, Suhail; Keimer, Reinhard; Deigendesch, Werner; Zaidan, Jimmy; Marzouqa, Hiyam; Bauer, Peter; Schols, Ludger
Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3

脊髓小脑性共济失调3型的局部脑和脊髓体积损失

MOVEMENT DISORDERS
IF7.6
2021-05-0538
OA
Faber, Jennifer; Schaprian, Tamara; Berkan, Koyak; Reetz, Kathrin; Franca, Marcondes Cavalcante; Rezende, Thiago Junqueira Ribeiro; Hong, Jiang; Liao, Weihua; Warrenburg, Bart; Gaalen, Judith; Durr, Alexandra; Mochel, Fanny; Giunti, Paola; Garcia-Moreno, Hector; Schoels, Ludger; Hengel, Holger; Synofzik, Matthis; Bender, Benjamin; Oz, Gulin; Joers, James; Vries, Jereon J.; Kang, Jun-Suk; Timmann-Braun, Dagmar; Jacobi, Heike; Infante, Jon; Joules, Richard; Romanzetti, Sandro; Diedrichsen, Jorn; Schmid, Matthias; Wolz, Robin; Klockgether, Thomas

研究方向

暂未获取到该数据
L
Lüdger Schöls
H 指数:98论文数:1,028被引数:3.7万
M
Matthis Synofzik
H 指数:77论文数:761被引数:2.2万
R
Rebecca Schüle
H 指数:60论文数:573被引数:1.1万
T
Tobias B. Haack
H 指数:69论文数:471被引数:1.5万
T
Tim W. Rattay
H 指数:22论文数:57被引数:1,239
T
Thomas Klockgether
H 指数:104论文数:2,398被引数:4.2万
P
Peter Bauer
H 指数:65论文数:483被引数:2.1万
M
Marc Sturm
H 指数:36论文数:148被引数:6,948
P
Paola Giunti
H 指数:68论文数:348被引数:1.5万
J
Jennifer Faber
H 指数:27论文数:138被引数:2,257