logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
F

Felix Distelmaier

heinrich-heine university
H指数:43
被引数:6,097

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Biallelic variants in PIKFYVE cause a hypomyelinating leukodystrophy with endolysosomal dysfunction

PIKFYVE基因双等位基因变异导致伴有内体-溶酶体功能障碍的髓鞘生成减少性脑白质营养不良

Brain
IF11.7
2026-10-140
OAAI
Luisa Averdunk; Martin Groß; Anna B Hamacher; Sandra Donkervoort; Diran Herebian; Shekeeb Mohammad; Alexej Knaus; Annette Seibt; Joerg Schaper; Heinrich Sticht; Samantha Bryen; Ann Kathrin Bergmann; Miriam Langener; Lenika De Simone; Angelina Markshausen; Guy Lenk; Sujal Ghosh; Sarah Sandaradura; Tanja Guthoff; Richard J Leventer; Rotem Orbach; Rocio Rius; Nikola Morton; Kimberly Gilmour; Ertan Mayatepek; Peter Krawitz; Carsten G Bönnemann; Juliane Bremer; Felix Distelmaier; null
Accelerating Leigh syndrome drug discovery through deep learning screening in brain organoids

通过类脑器官的深度学习筛选加速 Leigh 综合征药物发现

Nature Communications
IF15.7
2026-04-200
OAAI
Carmen Menacho; Satoshi Okawa; Iris Álvarez-Merz; Annika Wittich; Mikel Muñoz-Oreja; Pawel Lisowski; Mario López Martín; Tancredi Massimo Pentimalli; Shiri Zakin; Mathuravani Thevandavakkam; Caleb Jerred; Selene Lickfett; Laura Petersilie; Agnieszka Rybak-Wolf; Annette Seibt; Diran Herebian; Gizem Inak; Susanne Brodesser; Andrea Zaliani; Barbara Mlody; Justin Donnelly; Kasey Woleben; Francesc Xavier Soriano; Jose C. Fernandez-Checa; Natascia Ventura; Sidney Cambridge; Ertan Mayatepek; Antonella Spinazzola; Markus Schuelke; Nikolaus Rajewsky; Andrea Rossi; Alex Peralvarez-Marin; Felix Distelmaier; Ethan Perlstein; Ian J. Holt; Emma Puighermanal; Ole Pless; Christine R. Rose; Antonio Del Sol; Alessandro Prigione
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements

MELAS和卒中样发作的诊断标准与管理：基于共识的声明

European Journal of Neurology
IF3.9
2026-04-180
OAAI
Michelangelo Mancuso; Marcello Bellusci; Valerio Carelli; Irenaeus de Coo; Daria Diodato; Felix Distelmaier; Omar Hikmat; Michio Hirano; Rita Horvath; Amel Karaa; Thomas Klopstock; Mary Kay Koenig; Cornelia Kornblum; Chiara La Morgia; Piervito Lopriore; Mika Henrik Martikainen; Robert McFarland; Olimpia Musumeci; Robert D. S. Pitceathly; Guido Primiano; Shamima Rahman; Fernando Scaglia; Andrew Schaefer; Manuel Schiff; Luisa Semmler; Costanza Lamperti; Serenella Servidei
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
Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiency

酪氨酸补充与高蛋白饮食作为YARS1缺乏症的治疗策略

Genetics in Medicine
IF6.2
2026-01-070
OAAI
Luisa Averdunk; Karin Konzett; Hanna Mandel; Tobias Linden; Julien Neveu; Pierre Rohrlich; Melanie Herrmann; Thomas Lücke; Sabine Hoffjan; Pedro Arsenio Nunez Duran; Nadra Nasser Samra; Sabine Rudnik; Desiree E.C. Smith; Ertan Mayatepek; Gajja S. Salomons; Felix Distelmaier; Marisa I. Mendes
Combined ketone body and glutamine supplementation restores aerobic energy production in AGC1-deficient neuronal progenitors

联合酮体和谷氨酰胺补充剂可恢复AGC1缺陷型神经前体细胞的需氧能量产生

Cell Death & Disease
IF9.6
2025-12-150
OAAI
Simona Nicole Barile; Maria Chiara Magnifico; Eleonora Poeta; Felix Distelmaier; Luigi Viggiano; Nicola Balboni; Michele Protti; Sabrina Petralla; Antonella Pignataro; Giacomo Volpe; Monica De Luise; Massimo Bonora; Marica Antonicelli; Giorgia Babini; Francesca Massenzio; Vito Porcelli; Eleonora Lama; Roberto Arrigoni; Isabella Pisano; Veronica Addabbo; Anna Campana; Francesca Begnozzi; Stewart A. Anderson; Giuseppe Fiermonte; Federico Manuel Giorgi; Paolo Pinton; Ferdinando Palmieri; Giuseppe Gasparre; Laura Mercolini; Luigi Palmieri; Douglas C. Wallace; Julia Hentschel; Barbara Monti; Francesco Massimo Lasorsa
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy

解析DST相关疾病：影响DST-b的双等位基因变异导致先天性肌病

Brain
IF11.7
2025-06-110
PRE
Maureen Jacob; Heike Kölbel; Philip Harrer; Robert Kopajtich; Pinki Munot; Melanie T Achleitner; Susann Badmann; Melanie Brugger; Theresa Brunet; Gisèle Bonne; Marta Codina; Laura Ebner; Peyman Eshraghi; Katharina Eyring; Ahmad Shah Farhat; René G Feichtinger; Elisabeth Graf; Anna Marcé-Grau; Andreas Hahn; Henry Houlden; Ehsan Ghayoor Karimiani; Véronique Manel; Katharina Mayerhanser; Juliette Nectoux; Isabelle Nelson; Rahul Phadke; Holger Prokisch; Saeid Sadeghian; Alice Saparov; Anne Schänzer; Ulrike Schara-Schmidt; Julia Schmidt; Rahel Schuler; Caroline Sewry; Gholamreza Shariati; Silke Slanz; Dmitrii Smirnov; Rivka Sukenik-Halevy; Homa Tajsharghi; Mehran Beiraghi Toosi; Laura Trujillano; Joachim Weis; Louise C Wilson; Rabah Ben Yaou; Mina Zamani; Michael Zech; Jana Zschüntzsch; Uwe Kornak; David Goméz-Andrés; Reza Maroofian; Juliane Winkelmann; Andreas Roos; Felix Distelmaier; Johannes A Mayr; Matias Wagner
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia

整合基因组学和蛋白质组学揭示了肌张力障碍中难以捉摸的变异和广泛的病因异质性

BRAIN
IF11.7
2025-05-0110
OA
Zech, Michael; Dzinovic, Ivana; Skorvanek, Matej; Harrer, Philip; Necpal, Jan; Kopajtich, Robert; Kittke, Volker; Tilch, Erik; Zhao, Chen; Tsoma, Eugenia; Sorrentino, Ugo; Indelicato, Elisabetta; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovicova, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie; Brunet, Theresa; Cogne, Benjamin; Colangelo, Isabel; Conboy, Erin; Distelmaier, Felix; Eckenweiler, Matthias; Garavaglia, Barbara; Geerlof, Arie; Graf, Elisabeth; Hackenberg, Annette; Harvanova, Denisa; Haslinger, Bernhard; Havrankova, Petra; Hoffmann, Georg F.; Janzarik, Wibke G.; Keren, Boris; Kolnikova, Miriam; Kolokotronis, Konstantinos; Kosutzka, Zuzana; Koy, Anne; Krenn, Martin; Krygier, Magdalena; Kusikova, Katarina; Maier, Oliver; Meitinger, Thomas; Mertes, Christian; Milenkovic, Ivan; Monfrini, Edoardo; Mourao, Andre Santos Dias; Musacchio, Thomas; Nizon, Mathilde; Ostrozovicova, Miriam; Pavlov, Martin; Prihodova, Iva; Rektorova, Irena; Romito, Luigi M.; Rybanska, Barbora; Sadr-Nabavi, Ariane; Schwenger, Susanne; Shoeibi, Ali; Sitzberger, Alexandra; Smirnov, Dmitrii; Svantnerova, Jana; Tautanova, Raushana; Toelle, Sandra P.; Ulmanova, Olga; Vetrini, Francesco; Vill, Katharina; Wagner, Matias; Weise, David; Zorzi, Giovanna; Di Fonzo, Alessio; Oexle, Konrad; Berweck, Steffen; Mall, Volker; Boesch, Sylvia; Schormair, Barbara; Prokisch, Holger; Jech, Robert; Winkelmann, Juliane
Ketone bodies resume mitochondrial respiration in neuronal progenitors from iPSCs of patients with AGC1 deficiency
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
IF2.7
2024-09-010
PRE
Lasorsa, Francesco M.; Barile, Simona N.; Magnifico, Maria C.; Distelmaier, Felix; Poeta, Eleonora; Viggiano, Luigi; Pignataro, Antonella; Antonicelli, Marica; Palmieri, Luigi; Petralla, Sabrina; Hentschel, Julia; Porcelli, Vito; Tioli, Gaia; Pisano, Isabella; Porcelli, Anna Maria; Fiermonte, Giuseppe; Palmieri, Ferdinando; Anderson, Stewart A.; Iommarini, Luisa; Wallace, Douglas C.; Monti, Barbara
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease

遗传和非遗传因素对NBAS相关疾病表型多样性的影响

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-03-011
OAAI
Hammann, Nicole; Lenz, Dominic; Baric, Ivo; Crushell, Ellen; Vici, Carlo Dionisi; Distelmaier, Felix; Feillet, Francois; Freisinger, Peter; Hempel, Maja; Khoreva, Anna L.; Laass, Martin W.; Lacassie, Yves; Lainka, Elke; Larson-Nath, Catherine; Li, Zhongdie; Lipinski, Patryk; Lurz, Eberhard; Megarbane, Andre; Nobre, Susana; Olivieri, Giorgia; Peters, Bianca; Prontera, Paolo; Schlieben, Lea D.; Seroogy, Christine M.; Sobacchi, Cristina; Suzuki, Shigeru; Tran, Christel; Vockley, Jerry; Wang, Jian-She; Wagner, Matias; Prokisch, Holger; Garbade, Sven F.; Kolker, Stefan; Hoffmann, Georg F.; Staufner, Christian
Genetic landscape of pediatric acute liver failure of indeterminate origin
HEPATOLOGY
IF15.8
2023-11-168
OAAI
Lenz, Dominic; Schlieben, Lea D.; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Ruediger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E.; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Birute, Burnyte; Calvo, Pier L.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dezsofi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F.; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaclioglu, Ceyda T.; Knoppke, Birgit; Kohl, Martina; Koelbel, Heike; Koelker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloglu, Zarife; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A.; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Mueller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petkovic Ramadza, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnes; Santer, Rene; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W.; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B.; Zakharova, Ekaterina; Hoffmann, Georg F.; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger
Biallelic variants in CRIPT cause a Rothmund- Thomson-like syndrome with increased cellular senescence
GENETICS IN MEDICINE
IF6.2
2023-07-013
OAAI
Averdunk, Luisa; Huetzen, Maxim A.; Moreno-Andres, Daniel; Kalb, Reinhard; McKee, Shane; Hsieh, Tzung-Chien; Seibt, Annette; Schouwink, Marten; Lalani, Seema; Faqeih, Eissa Ali; Brunet, Theresa; Boor, Peter; Neveling, Kornelia; Hoischen, Alexander; Hildebrandt, Barbara; Graf, Elisabeth; Lu, Linchao; Jin, Weidong; Schaper, Joerg; Omer, Jamal A.; Demaret, Tanguy; Fleischer, Nicole; Schindler, Detlev; Krawitz, Peter; Mayatepek, Ertan; Wieczorek, Dagmar; Wang, Lisa L.; Antonin, Wolfram; Jachimowicz, Ron D.; von Felbert, Verena; Distelmaier, Felix
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood
GENETICS IN MEDICINE
IF6.2
2023-07-014
OA
Reijnders, Margot R. F.; Seibt, Annette; Brugger, Melanie; Lamers, Ideke J. C.; Ott, Torsten; Klaas, Oliver; Horvath, Judit; Rose, Ailsa M. S.; Craghill, Isabel M.; Brunet, Theresa; Graf, Elisabeth; Mayerhanser, Katharina; Hellebrekers, Debby; Pauck, David; Neuen-Jacob, Eva; Rodenburg, Richard J. T.; Wieczorek, Dagmar; Klee, Dirk; Mayatepek, Ertan; Driessen, Gertjan; Bindermann, Robert; Averdunk, Luisa; Lohmeier, Klaus; Sinnema, Margje; Stegmann, Alexander P. A.; Roepman, Ronald; Poulter, James A.; Distelmaier, Felix
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
GENETICS IN MEDICINE
IF6.2
2023-06-019
OA
Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroeter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueler, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Roetig, Agnes; Santer, Rene; Scaglia, Fernando; Sehiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmann, Saskia
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study
GENETICS IN MEDICINE
IF6.2
2023-01-019
OAAI
Loong, Lucy; Tardivo, Agostina; Knaus, Alexej; Hashim, Mona; Pagnamenta, Alistair T.; Alt, Kerstin; Boehrer-Rabel, Helena; Caro-Llopis, Alfonso; Cole, Trevor; Distelmaier, Felix; Edery, Patrick; Ferreira, Carlos R.; Jezela-Stanek, Aleksandra; Kerr, Bronwyn; Kluger, Gerhard; Krawitz, Peter M.; Kuhn, Marius; Lemke, Johannes R.; Lesca, Gaetan; Lynch, Sally Ann; Martinez, Francisco; Maxton, Caroline; Mierzewska, Hanna; Monfort, Sandra; Nicolai, Joost; Orellana, Carmen; Pal, Deb K.; Ploski, Rafal; Quarrell, Oliver W.; Rosello, Monica; Rydzanicz, Malgorzata; Sabir, Ataf; Smigiel, Robert; Stegmann, Alexander P. A.; Stewart, Helen; Stumpel, Constance; Szczepanik, Elzbieta; Tzschach, Andreas; Wolfe, Lynne; Taylor, Jenny C.; Murakami, Yoshiko; Kinoshita, Taroh; Bayat, Allan; Kini, Usha

研究方向

暂未获取到该数据
E
Ertan Mayatepek
H 指数:59论文数:608被引数:1.3万
H
Holger Prokisch
H 指数:100论文数:657被引数:4.9万
T
Tobias B. Haack
H 指数:69论文数:471被引数:1.5万
T
Thomas Meitinger
H 指数:168论文数:957被引数:13.0万
J
Johannes A. Mayr
H 指数:68论文数:389被引数:1.2万
J
Jan Smeıtınk
H 指数:92论文数:468被引数:3.1万
R
Richard J. Rodenburg
H 指数:74论文数:378被引数:1.7万
M
Matias Wagner
H 指数:37论文数:260被引数:4,729
A
Annette Seibt
H 指数:23论文数:68被引数:1,250
P
Peter H.G.M. Willems
H 指数:66论文数:344被引数:1.9万