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B

Bernhard Weschke

University of Rome Tor Vergata
H指数:26
被引数:4,127

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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Vigabatrin-associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex

结节性硬化症婴儿的Vigabatrin相关脑磁共振成像异常和临床症状

EPILEPSIA
IF6.6
2024-12-060
PRE
Stevering, Carmen; Lequin, Maarten; Szczepaniak, Kinga; Sadowski, Krzysztof; Ishrat, Saba; De Luca, Alberto; Leemans, Alexander; Otte, Willem; Kwiatkowski, David J.; Curatolo, Paolo; Weschke, Bernhard; Riney, Kate; Feucht, Martha; Krsek, Pavel; Nabbout, Rima; Jansen, Anna; Wojdan, Konrad; Sijko, Kamil; Glowacka-Walas, Jagoda; Borkowska, Julita; Domanska-Pakiela, Dorota; Moavero, Romina; Hertzberg, Christoph; Hulshof, Hanna; Scholl, Theresa; Petrak, Borivoj; Maminak, Miroslav; Aronica, Eleonora; De Ridder, Jessie; Lagae, Lieven; Jozwiak, Sergiusz; Kotulska, Katarzyna; Braun, Kees; Jansen, Floor
CIAO1 and MMS19 de fi ciency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
GENETICS IN MEDICINE
IF6.2
2024-06-012
OAAI
van Karnebeek, Clara D. M.; Tarailo-Graovac, Maja; Leen, Rene; Meinsma, Rutger; Correard, Solenne; Jansen-Meijer, Judith; Prykhozhij, Sergey V.; Pena, Izabella A.; Ban, Kevin; Schock, Sarah; Saxena, Vishal; Pras-Raves, Mia L.; Drogemoller, Britt I.; Grootemaat, Anita E.; van der Wel, Nicole N.; Dobritzsch, Doreen; Roseboom, Winfried; Schomakers, Bauke V.; Jaspers, Yorrick R. J.; Zoetekouw, Lida; Roelofsen, Jeroen; Ferreira, Carlos R.; van der Lee, Robin; Ross, Colin J.; Kochan, Jakub; McIntyre, Rebecca L.; van Klinken, Jan B.; van Weeghel, Michel; Kramer, Gertjan; Weschke, Bernhard; Labrune, Philippe; Willemsen, Michel A.; Riva, Daria; Garavaglia, Barbara; Moeschler, John B.; Filiano, James J.; Ekker, Marc; Berman, Jason N.; Dyment, David; Vaz, Frederic M.; Wassermann, Wyeth W.; Houtkooper, Riekelt H.; van Kuilenburg, Andre B. P.
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years
NATURE COMMUNICATIONS
IF15.7
2023-11-233
OAAI
Huschner, Franz; Glowacka-Walas, Jagoda; Mills, James D.; Klonowska, Katarzyna; Lasseter, Kathryn; Asara, John M.; Moavero, Romina; Hertzberg, Christoph; Weschke, Bernhard; Riney, Kate; Feucht, Martha; Scholl, Theresa; Krsek, Pavel; Nabbout, Rima; Jansen, Anna C.; Petrak, Borivoj; van Scheppingen, Jackelien; Zamecnik, Josef; Iyer, Anand; Anink, Jasper J.; Muehlebner, Angelika; Mijnsbergen, Caroline; Lagae, Lieven; Curatolo, Paolo; Borkowska, Julita; Sadowski, Krzysztof; Domanska-Pakiela, Dorota; Blazejczyk, Magdalena; Jansen, Floor E.; Janson, Stef; Urbanska, Malgorzata; Tempes, Aleksandra; Janssen, Bart; Sijko, Kamil; Wojdan, Konrad; Jozwiak, Sergiusz; Kotulska, Katarzyna; Lehmann, Karola; Aronica, Eleonora; Jaworski, Jacek; Kwiatkowski, David J.
miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex

miRNAs和isomiRs: 结节性硬化症中智力障碍和自闭症谱系障碍发展的血清生物标志物

BIOMEDICINES
IF3.9
2022-07-298
OAAI
Scheper, Mirte; Romagnolo, Alessia; Besharat, Zein Mersini; Iyer, Anand M.; Moavero, Romina; Hertzberg, Christoph; Weschke, Bernhard; Riney, Kate; Feucht, Martha; Scholl, Theresa; Petrak, Borivoj; Maulisova, Alice; Nabbout, Rima; Jansen, Anna C.; Jansen, Floor E.; Lagae, Lieven; Urbanska, Malgorzata; Ferretti, Elisabetta; Tempes, Aleksandra; Blazejczyk, Magdalena; Jaworski, Jacek; Kwiatkowski, David J.; Jozwiak, Sergiusz; Kotulska, Katarzyna; Sadowski, Krzysztof; Borkowska, Julita; Curatolo, Paolo; Mills, James D.; Aronica, Eleonora
Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex
NEUROLOGY
IF8.5
2022-03-2211
PRE
Hulshof, Hanna M.; Kuijf, Hugo J.; Kotulska, Katarzyna; Curatolo, Paolo; Weschke, Bernhard; Riney, Kate; Krsek, Pavel; Feucht, Martha; Nabbout, Rima; Lagae, Lieven; Jansen, Anna; Otte, Wim M.; Lequin, Maarten H.; Sijko, Kamil; Benvenuto, Arianna; Hertzberg, Christoph; Benova, Barbora; Scholl, Theresa; De Ridder, Jessie; Aronica, Eleonora M. A.; Kwiatkowski, David J.; Jozwiak, Sergiusz; Jurkiewicz, Elzbieta; Braun, Kees; Jansen, Floor E.
Results of quantitative EEG analysis are associated with autism spectrum disorder and development abnormalities in infants with tuberous sclerosis complex
BIOMEDICAL SIGNAL PROCESSING AND CONTROL
IF4.9
2021-07-015
PREAI
Lavanga, Mario; De Ridder, Jessie; Kotulska, Katarzyna; Moavero, Romina; Curatolo, Paolo; Weschke, Bernhard; Riney, Kate; Feucht, Martha; Krsek, Pavel; Nabbout, Rima; Jansen, Anna C.; Wojdan, Konrad; Domanska-Pakiela, Dorota; Kaczorowska-Frontczak, Magdalena; Hertzberg, Christoph; Ferrier, Cyrille H.; Samueli, Sharon; Jahodova, Alena; Aronica, Eleonora; Kwiatkowski, David J.; Jansen, Floor E.; Jozwiak, Sergiusz; Lagae, Lieven; Van Huffel, Sabine; Caicedo, Alexander
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes

结节性硬化症婴儿的早期癫痫样脑电图活动可预测癫痫和神经发育结局

EPILEPSIA
IF6.6
2021-03-2924
PRE
De Ridder, Jessie; Verhelle, Birgit; Vervisch, Jan; Lemmens, Katrien; Kotulska, Katarzyna; Moavero, Romina; Curatolo, Paolo; Weschke, Bernhard; Riney, Kate; Feucht, Martha; Krsek, Pavel; Nabbout, Rima; Jansen, Anna C.; Wojdan, Konrad; Domanska-Pakiela, Dorota; Kaczorowska-Frontczak, Magdalena; Hertzberg, Christoph; Ferrier, Cyrille H.; Samueli, Sharon; Benova, Barbora; Aronica, Eleonora; Kwiatkowski, David J.; Jansen, Floor E.; Jozwiak, Sergiusz; Lagae, Lieven
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial
ANNALS OF NEUROLOGY
IF7.7
2020-11-27173
OAAI
Kotulska, Katarzyna; Kwiatkowski, David J.; Curatolo, Paolo; Weschke, Bernhard; Riney, Kate; Jansen, Floor; Feucht, Martha; Krsek, Pavel; Nabbout, Rima; Jansen, Anna C.; Wojdan, Konrad; Sijko, Kamil; Glowacka-Walas, Jagoda; Borkowska, Julita; Sadowski, Krzysztof; Domanska-Pakiela, Dorota; Moavero, Romina; Hertzberg, Christoph; Hulshof, Hanna; Scholl, Theresa; Benova, Barbora; Aronica, Eleonora; de Ridder, Jessie; Lagae, Lieven; Jozwiak, Sergiusz
TSC2pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study

Tsc2致病性变异可预测TSC婴儿的严重临床表现: EPISTOP研究的结果

GENETICS IN MEDICINE
IF6.2
2020-09-0161
OAAI
Ogorek, Barbara; Hamieh, Lana; Hulshof, Hanna M.; Lasseter, Kathryn; Klonowska, Katarzyna; Kuijf, Hugo; Moavero, Romina; Hertzberg, Christoph; Weschke, Bernhard; Riney, Kate; Feucht, Martha; Scholl, Theresa; Krsek, Pavel; Nabbout, Rima; Jansen, Anna C.; Benova, Barbora; Aronica, Eleonora; Lagae, Lieven; Curatolo, Paolo; Borkowska, Julita; Sadowski, Krzysztof; Domanska-Pakiela, Dorota; Janson, Stef; Kozlowski, Piotr; Urbanska, Malgorzata; Jaworski, Jacek; Jozwiak, Sergiusz; Jansen, Floor E.; Kotulska, Katarzyna; Kwiatkowski, David J.
Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2020-07-2325
OAAI
Moavero, Romina; Kotulska, Katarzyna; Lagae, Lieven; Benvenuto, Arianna; Gialloreti, Leonardo Emberti; Weschke, Bernhard; Riney, Kate; Feucht, Martha; Krsek, Pavel; Nabbout, Rima; Jansen, Anna C.; Wojdan, Konrad; Borkowska, Julita; Sadowski, Krzysztof; Hertzberg, Christoph; Van Schooneveld, Monique M.; Samueli, Sharon; Maulisova, Alice; Aronica, Eleonora; Kwiatkowski, David J.; Jansen, Floor E.; Jozwiak, Sergiusz; Curatolo, Paolo
Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

结节性硬化症婴儿自闭症谱系障碍的早期临床预测因素: EPISTOP研究的结果

JOURNAL OF CLINICAL MEDICINE
IF2.9
2019-06-0353
OAAI
Moavero, Romina; Benvenuto, Arianna; Gialloreti, Leonardo Emberti; Siracusano, Martina; Kotulska, Katarzyna; Weschke, Bernhard; Riney, Kate; Jansen, Floor E.; Feucht, Martha; Krsek, Pavel; Nabbout, Rima; Jansen, Anna C.; Wojdan, Konrad; Borkowska, Julita; Sadowski, Krzystof; Hertzberg, Christoph; Hulshof, Hanna; Samueli, Sharon; Benova, Barbora; Aronica, Eleonora; Kwiatkowski, David J.; Lagae, Lieven; Jozwiak, Sergiusz; Curatolo, Paolo; Anink, J.; Blazejczyk, M.; Bongaerts, A.; Borkowska, J.; Breuillard, D.; Chmielewski, D.; Dabrowska, M.; De Ridder, J.; Giannikou, K.; Glowacka, J.; Hamieh, L.; Harvza, A.; Iyer, A.; Janssen, Bart; Jaworski, J.; Kaczorowska-Frontczak, M.; Lehmann, K.; Leusman, A.; Madcowiak, N.; Mills, J.; Muelebner, A.; Scheldeman, C.; Sciuto, A.; Sijko, K.; Slowinska, M.; Tempes, A.; van Scheppingen, J.; Verhelle, B.; Vervisch, J.; Urbanska, M.; Zych, K.; Biernacka, M.; Lojszczyk, B.
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-04-0166
OAAI
Mendes, Marisa I.; Salazar, Mariana Gutierrez; Guerrero, Kether; Thiffault, Isabelle; Salomons, Gajja S.; Gauquelin, Laurence; Tran, Luan T.; Forget, Diane; Gauthier, Marie-Soleil; Waisfisz, Quinten; Smith, Desiree E. C.; Simons, Cas; van der Knaap, Marjo S.; Marquardt, Iris; Lemes, Aida; Mierzewska, Hanna; Weschke, Bernhard; Koehler, Wolfgang; Coulombe, Benoit; Wolf, Nicole I.; Bernard, Genevieve
GLRB is the third major gene of effect in hyperekplexia
HUMAN MOLECULAR GENETICS
IF3.2
2012-11-2557
OAAI
Chung, Seo-Kyung; Bode, Anna; Cushion, Thomas D.; Thomas, Rhys H.; Hunt, Charlotte; Wood, Sian-Elin; Pickrell, William O.; Drew, Cheney J. G.; Yamashita, Sumimasa; Shiang, Rita; Leiz, Steffen; Longhardt, Ann-Carolyn; Raile, Vera; Weschke, Bernhard; Puri, Ratna D.; Verma, Ishwar C.; Harvey, Robert J.; Ratnasinghe, Didi D.; Parker, Michael; Rittey, Chris; Masri, Amira; Lingappa, Lokesh; Howell, Owain W.; Vanbellinghen, Jean-Francois; Mullins, Jonathan G.; Lynch, Joseph W.; Rees, Mark I.
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
BRAIN
IF11.7
2010-04-29179
OAAI
Willemsen, Michel A.; Verbeek, Marcel M.; Kamsteeg, Erik-Jan; de Rijk-van Andel, Johanneke F.; Aeby, Alec; Blau, Nenad; Burlina, Alberto; Donati, Maria A.; Geurtz, Ben; Grattan-Smith, Padraic J.; Haeussler, Martin; Hoffmann, Georg F.; Jung, Hans; de Klerk, Johannis B.; van der Knaap, Marjo S.; Kok, Fernando; Leuzzi, Vincenzo; de Lonlay, Pascale; Megarbane, Andre; Monaghan, Hugh; Renier, Willy O.; Rondot, Pierre; Ryan, Monique M.; Seeger, Jurgen; Smeitink, Jan A.; Steenbergen-Spanjers, Gerry C.; Wassmer, Evangeline; Weschke, Bernhard; Wijburg, Frits A.; Wilcken, Bridget; Zafeiriou, Dimitrios I.; Wevers, Ron A.

研究方向

暂未获取到该数据
L
Lieven Lagae
H 指数:77论文数:518被引数:2.5万
M
Martha Feucht
H 指数:59论文数:327被引数:1.3万
S
Sergiusz Jóźwiak
H 指数:60论文数:422被引数:1.9万
E
Eleonora Aronica
H 指数:115论文数:769被引数:5.0万
A
Anna Jansen
H 指数:55论文数:348被引数:1.3万
R
Rima Nabbout
H 指数:77论文数:673被引数:2.7万
P
Paolo Curatolo
H 指数:75论文数:417被引数:2.2万
C
Christoph Hertzberg
H 指数:34论文数:103被引数:4,942
D
David J. Kwiatkowski
H 指数:135论文数:989被引数:7.9万
F
Floor E. Jansen
H 指数:54论文数:208被引数:1.3万