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U

Uwe Ahting

Helmholtz Association
H指数:29
被引数:2,887

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De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy (vol 144, pg 411, 2020)
BRAIN
IF11.7
2021-05-150
OAAI
Riedhammer, Korbinian M.; Stockler, Sylvia; Ploski, Rafal; Wenzel, Maren; Adis-Dutschmann, Burkhard; Ahting, Uwe; Alhaddad, Bader; Blaschek, Astrid; Haack, Tobias B.; Kopajtich, Robert; Lee, Jessica; Pienkowski, Victor Murcia; Pollak, Agnieszka; Szymanska, Krystyna; Tarailo-Graovac, Maja; van der Lee, Robin; van Karnebeek, Clara D.; Meitinger, Thomas; Krageloh-Mann, Ingeborg; Vill, Katharina
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

CLDN11的De novo止损变异导致低髓性脑白质营养不良

BRAIN
IF11.7
2020-12-1215
OA
Riedhammer, Korbinian M.; Stockler, Sylvia; Ploski, Rafal; Wenzel, Maren; Adis-Dutschmann, Burkhard; Ahting, Uwe; Alhaddad, Bader; Blaschek, Astrid; Haack, Tobias B.; Kopajtich, Robert; Lee, Jessica; Pienkowski, Victor Murcia; Pollak, Agnieszka; Szymanska, Krystyna; Tarailo-Graovac, Maja; van der Lee, Robin; van Karnebeek, Clara D.; Meitinger, Thomas; Kraegeloh-Mann, Ingeborg; Vill, Katharina
Regulatory myeloid cells paralyze T cells through cell-cell transfer of the metabolite methylglyoxal
NATURE IMMUNOLOGY
IF27.6
2020-04-23171
PREAI
Baumann, Tobias; Dunkel, Andreas; Schmid, Christian; Schmitt, Sabine; Hiltensperger, Michael; Lohr, Kerstin; Laketa, Vibor; Donakonda, Sainitin; Ahting, Uwe; Lorenz-Depiereux, Bettina; Heil, Jan E.; Schredelseker, Johann; Simeoni, Luca; Fecher, Caroline; Koerber, Nina; Bauer, Tanja; Hueser, Norbert; Hartmann, Daniel; Laschinger, Melanie; Eyerich, Kilian; Eyerich, Stefanie; Anton, Martina; Streeter, Matthew; Wang, Tina; Schraven, Burkhart; Spiegel, David; Assaad, Farhah; Misgeld, Thomas; Zischka, Hans; Murray, Peter J.; Heine, Annkristin; Heikenwaelder, Mathias; Korn, Thomas; Dawid, Corinna; Hofmann, Thomas; Knolle, Percy A.; Hoechst, Bastian
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
GENETICS IN MEDICINE
IF6.2
2019-11-0128
OAAI
Feichtinger, Rene G.; Mucha, Bettina E.; Hengel, Holger; Orfi, Zakaria; Makowski, Christine; Dort, Junio; D'Anjou, Guy; Thi Tuyet Mai Nguyen; Buchert, Rebecca; Juenger, Hendrik; Freisinger, Peter; Baumeister, Sarah; Schoser, Benedikt; Ahting, Uwe; Keimer, Reinhard; Nguyen, Cam-Tu Emilie; Fabre, Paul; Gauthier, Julie; Miguet, Marguerite; Lopes, Fatima; AlHakeem, Afnan; AlHashem, Amal; Tabarki, Brahim; Kandaswamy, Krishna Kumar; Bauer, Peter; Steinbacher, Peter; Prokisch, Holger; Sturm, Marc; Strom, Tim M.; Ellezam, Benjamin; Mayr, Johannes A.; Schoels, Ludger; Michaud, Jacques L.; Campeau, Philippe M.; Haack, Tobias B.; Dumont, Nicolas A.
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
BRAIN
IF11.7
2018-12-2045
OAAI
Van Bergen, Nicole J.; Guo, Yiran; Rankin, Julia; Paczia, Nicole; Becker-Kettern, Julia; Kremer, Laura S.; Pyle, Angela; Conrotte, Jean-Francois; Ellaway, Carolyn; Procopis, Peter; Prelog, Kristina; Homfray, Tessa; Baptista, Julia; Baple, Emma; Wakeling, Matthew; Massey, Sean; Kay, Daniel P.; Shukla, Anju; Girisha, Katta M.; Lewis, Leslie E. S.; Santra, Saikat; Power, Rachel; Daubeney, Piers; Montoya, Julio; Ruiz-Pesini, Eduardo; Kovacs-Nagy, Reka; Pritsch, Martin; Ahting, Uwe; Thorburn, David R.; Prokisch, Holger; Taylor, Robert W.; Christodoulou, John; Linster, Carole L.; Ellard, Sian; Hakonarson, Hakon
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2018-07-1956
OAAI
Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rotig, Agnes; Ardissone, Anna; Lombes, Anne; Catarino, Claudia B.; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Ding Wenhong; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; de Coo, Irenaeus F. M.; Moroni, Isabella; Smet, Joel; Mayr, Johannes A.; Dai, Lifang; de Meirleir, Linda; Schuelke, Markus; Zeviani, Massimo; Morscher, Raphael J.; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M.; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang Fang; Freisinger, Peter; Van Coster, Rudy; Strecker, Valentina; Taylor, Robert W.; Haeberle, Johannes; Vockley, Jerry; Prokisch, Holger; Wortmann, Saskia
COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2015-02-0195
OAAI
Brea-Calvo, Gloria; Haack, Tobias B.; Karall, Daniela; Ohtake, Akira; Invernizzi, Federica; Carrozzo, Rosalba; Kremer, Laura; Dusi, Sabrina; Fauth, Christine; Scholl-Buergi, Sabine; Graf, Elisabeth; Ahting, Uwe; Resta, Nicoletta; Laforgia, Nicola; Verrigni, Daniela; Okazaki, Yasushi; Kohda, Masakazu; Martinelli, Diego; Freisinger, Peter; Strom, Tim M.; Meitinger, Thomas; Lamperti, Costanza; Lacson, Atilano; Navas, Placido; Mayr, Johannes A.; Bertini, Enrico; Murayama, Kei; Zeviani, Massimo; Prokisch, Holger; Ghezzi, Daniele
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

Sengers综合征: 七个新家系中的六个新的AGK突变，并回顾了29例患者的表型和突变谱

ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2014-08-2075
OAAI
Haghighi, Alireza; Haack, Tobias B.; Atiq, Mehnaz; Mottaghi, Hassan; Haghighi-Kakhki, Hamidreza; Bashir, Rani A.; Ahting, Uwe; Feichtinger, Rene G.; Mayr, Johannes A.; Rotig, Agnes; Lebre, Anne-Sophie; Klopstock, Thomas; Dworschak, Andrea; Pulido, Nathan; Saeed, Mahmood A.; Saleh-Gohari, Nasrollah; Holzerova, Eliska; Chinnery, Patrick F.; Taylor, Robert W.; Prokisch, Holger
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening
MOLECULAR GENETICS AND METABOLISM
IF3.5
2014-03-0157
PREAI
Haack, Tobias B.; Gorza, Matteo; Danhauser, Katharina; Mayr, Johannes A.; Haberberger, Birgit; Wieland, Thomas; Kremer, Laura; Strecker, Valentina; Graf, Elisabeth; Memari, Yasin; Ahting, Uwe; Kopajtich, Robert; Wortmann, Saskia B.; Rodenburg, Richard J.; Kotzaeridou, Urania; Hoffmann, Georg F.; Sperl, Wolfgang; Wittig, Ilka; Wilichowski, Ekkehard; Schottmann, Gudrun; Schuelke, Markus; Plecko, Barbara; Stephani, Ulrich; Strom, Tim M.; Meitinger, Thomas; Prokisch, Holger; Freisinger, Peter
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
JOURNAL OF MEDICAL GENETICS
IF3.7
2012-04-12158
OAAI
Haack, Tobias B.; Haberberger, Birgit; Frisch, Eva-Maria; Wieland, Thomas; Iuso, Arcangela; Gorza, Matteo; Strecker, Valentina; Graf, Elisabeth; Mayr, Johannes A.; Herberg, Ulrike; Hennermann, Julia B.; Klopstock, Thomas; Kuhn, Klaus A.; Ahting, Uwe; Sperl, Wolfgang; Wilichowski, Ekkehard; Hoffmann, Georg F.; Tesarova, Marketa; Hansikova, Hana; Zeman, Jiri; Plecko, Barbara; Zeviani, Massimo; Wittig, Ilka; Strom, Tim M.; Schuelke, Markus; Freisinger, Peter; Meitinger, Thomas; Prokisch, Holger
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9
JOURNAL OF MEDICAL GENETICS
IF3.7
2011-12-2685
PREAI
Haack, Tobias B.; Madignier, Florence; Herzer, Martina; Lamantea, Eleonora; Danhauser, Katharina; Invernizzi, Federica; Koch, Johannes; Freitag, Martin; Drost, Rene; Hillier, Ingo; Haberberger, Birgit; Mayr, Johannes A.; Ahting, Uwe; Tiranti, Valeria; Roetig, Agnes; Iuso, Arcangela; Horvath, Rita; Tesarova, Marketa; Baric, Ivo; Uziel, Graziella; Rolinski, Boris; Sperl, Wolfgang; Meitinger, Thomas; Zeviani, Massimo; Freisinger, Peter; Prokisch, Holger

研究方向

暂未获取到该数据
H
Holger Prokisch
H 指数:100论文数:657被引数:4.8万
J
Johannes A. Mayr
H 指数:68论文数:389被引数:1.2万
T
Tobias B. Haack
H 指数:69论文数:471被引数:1.5万
P
Peter Freisinger
H 指数:52论文数:208被引数:8,457
T
Thomas Meitinger
H 指数:168论文数:957被引数:13.0万
W
Wolfgang Sperl
H 指数:64论文数:381被引数:1.1万
W
Walter Neupert
H 指数:116论文数:427被引数:4.0万
T
Tim M. Strom
H 指数:109论文数:714被引数:5.3万
B
Boris Rolinski
H 指数:24论文数:97被引数:2,585
M
Massimo Zeviani
H 指数:116论文数:757被引数:5.1万