Ebba Lohmann

university of tubingen

H指数:42

被引数:1.0万

个人简介

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教育背景

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工作经历

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荣誉奖项

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FBXO7 Pathogenic Variants in Early-Onset Parkinsonism: Insights from a Neuroimaging Perspective and Review of the Literature

FBXO7致病性变异在早发性帕金森综合征中的研究：神经影像学视角的见解与文献综述

Movement Disorders Clinical Practice

IF2.7

2025-07-310

PRE

Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies

MOVEMENT DISORDERS

IF7.6

2024-09-170

Laabs, Bjoern-Hergen; Lohmann, Katja; Vollstedt, Eva-Juliane; Reinberger, Tobias; Nuxoll, Lisa-Marie; Kilic-Berkmen, Gamze; Perlmutter, Joel S.; Loens, Sebastian; Cruchaga, Carlos; Franke, Andre; Dobricic, Valerija; Hinrichs, Frauke; Groezinger, Anne; Altenmueller, Eckart; Bellows, Steven; Boesch, Sylvia; Bressman, Susan B.; Duque, Kevin R.; Espay, Alberto J.; Ferbert, Andreas; Feuerstein, Jeanne S.; Frank, Samuel; Gasser, Thomas; Haslinger, Bernhard; Jech, Robert; Kaiser, Frank; Kamm, Christoph; Kollewe, Katja; Kuehn, Andrea A.; LeDoux, Mark S.; Lohmann, Ebba; Mahajan, Abhimanyu; Muenchau, Alexander; Multhaupt-Buell, Trisha; Pantelyat, Alexander; Pirio Richardson, Sarah E.; Raymond, Deborah; Reich, Stephen G.; Saunders Pullman, Rachel; Schormair, Barbara; Sharma, Nutan; Sichani, Azadeh Hamzehei; Simonyan, Kristina; Volkmann, Jens; Wagle Shukla, Aparna; Winkelmann, Juliane; Wright, Laura J.; Zech, Michael; Zeuner, Kirsten E.; Zittel, Simone; Kasten, Meike; Sun, Yan V.; Baeumer, Tobias; Brueggemann, Norbert; Ozelius, Laurie J.; Jinnah, Hyder A.; Klein, Christine; Koenig, Inke R.

A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors

超过7,000人的生物流体中颗粒蛋白前体浓度的系统评价-评估GRN突变的致病性和其他影响因素

ALZHEIMERS RESEARCH & THERAPY

IF7.6

2024-03-286

OAAI

Swift, Imogen J.; Rademakers, Rosa; Finch, Nicole; Baker, Matt; Ghidoni, Roberta; Benussi, Luisa; Binetti, Giuliano; Rossi, Giacomina; Synofzik, Matthis; Wilke, Carlo; Mengel, David; Graff, Caroline; Takada, Leonel T.; Sanchez-Valle, Raquel; Antonell, Anna; Galimberti, Daniela; Fenoglio, Chiara; Serpente, Maria; Arcaro, Marina; Schreiber, Stefanie; Vielhaber, Stefan; Arndt, Philipp; Santana, Isabel; Almeida, Maria Rosario; Moreno, Fermin; Barandiaran, Myriam; Gabilondo, Alazne; Stubert, Johannes; Gomez-Tortosa, Estrella; Agueero, Pablo; Sainz, M. Jose; Gohda, Tomohito; Murakoshi, Maki; Kamei, Nozomu; Kittel-Schneider, Sarah; Reif, Andreas; Weigl, Johannes; Jian, Jinlong; Liu, Chuanju; Serrero, Ginette; Greither, Thomas; Theil, Gerit; Lohmann, Ebba; Gazzina, Stefano; Bagnoli, Silvia; Coppola, Giovanni; Bruni, Amalia; Quante, Mirja; Kiess, Wieland; Hiemisch, Andreas; Jurkutat, Anne; Block, Matthew S.; Carlson, Aaron M.; Brathen, Geir; Sando, Sigrid Botne; Grontvedt, Goril Rolfseng; Lauridsen, Camilla; Heslegrave, Amanda; Heller, Carolin; Abel, Emily; Gomez-Nunez, Alba; Puey, Roger; Arighi, Andrea; Rotondo, Enmanuela; Jiskoot, Lize C.; Meeter, Lieke H. H.; Duraes, Joao; Lima, Marisa; Tabuas-Pereira, Miguel; Lemos, Joao; Boeve, Bradley; Petersen, Ronald C.; Dickson, Dennis W.; Graff-Radford, Neill R.; Leber, Isabelle; Sellami, Leila; Lamari, Foudil; Clot, Fabienne; Borroni, Barbara; Cantoni, Valentina; Rivolta, Jasmine; Lleo, Alberto; Fortea, Juan; Alcolea, Daniel; Illan-Gala, Ignacio; Andres-Cerezo, Lucie; Van Damme, Philip; Clarimon, Jordi; Steinacker, Petra; Feneberg, Emily; Otto, Markus; van der Ende, Emma L.; van Swieten, John C.; Seelaar, Harro; Zetterberg, Henrik; Sogorb-Esteve, Aitana; Rohrer, Jonathan D.

Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights

JOURNAL OF MEDICAL GENETICS

IF3.7

2024-03-084

OAAI

Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes

大规模筛选: 分离和组合的肌张力障碍基因的表型和突变谱

MOVEMENT DISORDERS

IF7.6

2024-01-121

Thomsen, Mirja; Marth, Katrin; Loens, Sebastian; Everding, Judith; Junker, Johanna; Borngraeber, Friederike; Ott, Fabian; Jesus, Silvia; Gelderblom, Mathias; Odorfer, Thorsten; Kuhlenbaeumer, Gregor; Kim, Han-Joon; Schaeffer, Eva; Becktepe, Jos; Kasten, Meike; Brueggemann, Norbert; Pfister, Robert; Kollewe, Katja; Krauss, Joachim K.; Lohmann, Ebba; Hinrichs, Frauke; Berg, Daniela; Jeon, Beomseok; Busch, Hauke; Altenmueller, Eckart; Mir, Pablo; Kamm, Christoph; Volkmann, Jens; Zittel, Simone; Ferbert, Andreas; Zeuner, Kirsten E.; Rolfs, Arndt; Bauer, Peter; Kuehn, Andrea A.; Baeumer, Tobias; Klein, Christine; Lohmann, Katja

TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients

NEUROBIOLOGY OF AGING

IF3.5

2023-03-012

OAAI

Foddis, Marco; Blumenau, Sonja; Holtgrewe, Manuel; Paquette, Kimberly; Westra, Kaitlyn; Alonso, Isabel; Macario, Maria do Carmo; Morgadinho, Ana Sofia; Velon, Ana Graca; Santo, Gustavo; Santana, Isabel; Monkare, Saana; Kuuluvainen, Liina; Schleutker, Johanna; Poyhonen, Minna; Myllykangas, Liisa; Pavlovic, Aleksandra; Kostic, Vladimir; Dobricic, Valerija; Lohmann, Ebba; Hanagasi, Hasmet; Santos, Mariana; Guven, Gamze; Bilgic, Basar; Bras, Jose; Beule, Dieter; Dirnagl, Ulrich; Guerreiro, Rita; Sassi, Celeste

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

NEUROLOGY

IF8.5

2022-05-1711

OAAI

Schwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brunger, Tobias; Hedrich, Ulrike B. S.; Augustijn, Paul B.; Baier, Hartmut; Bayat, Allan; Bisulli, Francesca; Buono, Russell J.; Bruria, Ben Zeev; Doyle, Michael G.; Guerrini, Renzo; Heimer, Gali; Iacomino, Michele; Kearney, Hugh; Klein, Karl Martin; Kousiappa, Ioanna; Kunz, Wolfram S.; Lerche, Holger; Licchetta, Laura; Lohmann, Ebba; Minardi, Raffaella; McDonald, Marie; Montgomery, Sarah; Mulahasanovic, Lejla; Oegema, Renske; Ortal, Barel; Papacostas, Savvas S.; Ragona, Francesca; Granata, Tiziana; Reif, Phillip S.; Rosenow, Felix; Rothschild, Annick; Scudieri, Paolo; Striano, Pasquale; Tinuper, Paolo; Tanteles, George A.; Vetro, Annalisa; Zahnert, Felix; Goldberg, Ethan M.; Zara, Federico; Lal, Dennis; May, Patrick; Muhle, Hiltrud; Helbig, Ingo; Weber, Yvonne

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (vol 22, pg 1851, 2020)

GENETICS IN MEDICINE

IF6.2

2021-10-011

OAAI

A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease

在两个患有帕金森氏病的土耳其家庭中，一种新的 α-突触核蛋白错义变体 (Thr72Met)

PARKINSONISM & RELATED DISORDERS

IF3.4

2021-08-0121

OAAI

A comprehensive analysis of copy number variation in a Turkish dementia cohort

HUMAN GENOMICS

IF4.3

2021-07-282

OAAI

Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2021-04-0113

Mencacci, Niccolo E.; Brockmann, Marisa M.; Dai, Jinye; Pajusalu, Sander; Atasu, Burcu; Campos, Joaquin; Pino, Gabriela; Gonzalez-Latapi, Paulina; Patzke, Christopher; Schwake, Michael; Tucci, Arianna; Pittman, Alan; Simon-Sanchez, Javier; Carvill, Gemma L.; Balint, Bettina; Wiethoff, Sarah; Warner, Thomas T.; Papandreou, Apostolos; Soo, Audrey; Rein, Reet; Kadastik-Eerme, Liis; Puusepp, Sanna; Reinson, Karit; Tomberg, Tiiu; Hanagasi, Hasmet; Gasser, Thomas; Bhatia, Kailash P.; Kurian, Manju A.; Lohmann, Ebba; Ounap, Katrin; Rosenmund, Christian; Sudhof, Thomas C.; Wood, Nicholas W.; Krainc, Dimitri; Acuna, Claudio

PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice

SCIENTIFIC REPORTS

IF3.9

2021-03-163

OAAI

Messerschmidt, Clemens; Foddis, Marco; Blumenau, Sonja; Mueller, Susanne; Bentele, Kajetan; Holtgrewe, Manuel; Kun-Rodrigues, Celia; Alonso, Isabel; Macario, Maria do Carmo; Morgadinho, Ana Sofia; Velon, Ana Graca; Santo, Gustavo; Santana, Isabel; Monkare, Saana; Kuuluvainen, Liina; Schleutker, Johanna; Poyhonen, Minna; Myllykangas, Liisa; Senatore, Assunta; Berchtold, Daniel; Winek, Katarzyna; Meisel, Andreas; Pavlovic, Aleksandra; Kostic, Vladimir; Dobricic, Valerija; Lohmann, Ebba; Hanagasi, Hasmet; Guven, Gamze; Bilgic, Basar; Bras, Jose; Guerreiro, Rita; Beule, Dieter; Dirnagl, Ulrich; Sassi, Celeste

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

小脑共济失调中STUB1变体的临床，神经病理学和遗传特征: 主要认知障碍的常见原因

GENETICS IN MEDICINE

IF6.2

2020-11-0134

OAAI

Segregation of ATP10B variants in families with autosomal recessive parkinsonism

ACTA NEUROPATHOLOGICA

IF9.3

2020-09-056

PREAI

Characterization of Recessive Parkinson Disease in a Large Multicenter Study

ANNALS OF NEUROLOGY

IF7.7

2020-07-2851

OAAI

Lesage, Suzanne; Lunati, Ariane; Houot, Marion; Ben Romdhan, Sawssan; Clot, Fabienne; Tesson, Christelle; Mangone, Graziella; Le Toullec, Benjamin; Courtin, Thomas; Larcher, Kathy; Benmahdjoub, Mustapha; Arezki, Mohamed; Bouhouche, Ahmed; Anheim, Mathieu; Roze, Emmanuel; Viallet, Francois; Tison, Francois; Broussolle, Emmanuel; Emre, Murat; Hanagasi, Hasmet; Bilgic, Basar; Tazir, Meriem; Ben Djebara, Mouna; Gouider, Riadh; Tranchant, Christine; Vidailhet, Marie; Le Guern, Eric; Corti, Olga; Mhiri, Chokri; Lohmann, Ebba; Singleton, Andrew; Corvol, Jean-Christophe; Brice, Alexis

CLINICAL NEUROPHYSIOLOGY

IF3.6

2020-07-014

PREAI

Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia

JOURNAL OF ALZHEIMERS DISEASE

IF3.1

2019-01-0810

OAAI

HPCA Confirmed as a Genetic Cause of DYT2-Like Dystonia Phenotype

MOVEMENT DISORDERS

IF7.6