Musto, Elisa; Liao, Vivian W. Y.; Johannesen, Katrine M.; Fenger, Christina D.; Lederer, Damien; Kothur, Kavitha; Fisk, Katrina; Bennetts, Bruce; Vrielynck, Pascal; Delaby, Delphine; Ceulemans, Berten; Weckhuysen, Sarah; Sparber, Peter; Bouman, Arjan; Ardern-Holmes, Simone; Troedson, Christopher; Battaglia, Domenica I.; Goel, Himanshu; Feyma, Timothy; Bakhtiari, Somayeh; Tjoa, Linda; Boxill, Martin; Demina, Nina; Shchagina, Olga; Dadali, Elena; Kruer, Michael; Cantalupo, Gaetano; Contaldo, Ilaria; Polster, Tilman; Isidor, Bertrand; Bova, Stefania M.; Fazeli, Walid; Wouters, Leen; Miranda, Maria J.; Darra, Francesca; Pede, Elisa; Le Duc, Diana; Jamra, Rami Abou; Kury, Sebastien; Proietti, Jacopo; Mcsweeney, Niamh; Brokamp, Elly; Andrews, Peter Ian; Gouray Garcia, Marie; Chebib, Mary; Moller, Rikke S.; Ahring, Philip K.; Gardella, Elena

Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration

BRAIN

IF11.7

2023-10-133

PRE

Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion

HUMAN GENETICS

IF3.6

2023-04-255

PRE

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

HUMAN MOLECULAR GENETICS

IF3.2

2021-09-099

OAAI

Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R.; Bernat, John A.; Bombei, Hannah M.; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stobe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; Popp, Bernt; Vasileiou, Georgia; Hebebrand, Moritz; Reis, Andre; Schuhmann, Sarah; Krumbiegel, Mandy; Brown, Natasha J.; Sparber, Peter; Melikyan, Lyusya; Bessonova, Liudmila; Cherevatova, Tatiana; Sharkov, Artem; Shcherbakova, Natalia; Dabir, Tabib; Kini, Usha; Schwaibold, Eva M. C.; Haack, Tobias B.; Bertoli, Marta; Hoffjan, Sabine; Falb, Ruth; Shinawi, Marwan; Sticht, Heinrich; Zweier, Christiane

Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia

PARKINSONISM & RELATED DISORDERS

IF3.4

2021-03-019

PREAI

Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect

HUMAN MUTATION

IF3.7

2019-04-0327

OAAI

Peter Sparber

个人简介

教育背景

工作经历

荣誉奖项

研究方向