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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 5
2023
Seyedtaghia, Mohammad Reza; Soudyab, Mohammad; Shariati, Mohammad; Esfehani, Reza Jafarzadeh; Vafadar, Shabnam; Shalaei, Neda; Nouri, Vahid; Zech, Michael; Winkelmann, Juliane; Shoeibi, Ali und Sadr-Nabavi, Ariane
(2023):
Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion in PARK7 leads to severe early-onset Parkinson's disease.
In: Heliyon, Bd. 9, Nr. 4, e15393
[PDF, 3MB]
2022
Garavaglia, Barbara; Vallian, Sadeq; Romito, Luigi M.; Straccia, Giulia; Capecci, Marianna; Invernizzi, Federica; Andrenelli, Elisa; Kazemi, Arezu; Boesch, Sylvia; Kopajtich, Robert; Olfati, Nahid; Shariati, Mohammad; Shoeibi, Ali; Sadr-Nabavi, Ariane; Prokisch, Holger; Winkelmann, Juliane und Zech, Michael
(2022):
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.
In: Parkinsonism & Related Disorders, Bd. 97: S. 52-56
Soudyab, Mohammad; Shariati, Mohammad; Esfehani, Reza Jafarzadeh; Shalaei, Neda; Vafadar, Shabnam; Nouri, Vahid; Zech, Michael; Winkelmann, Juliane; Shoeibi, Ali und Sadr-Nabavi, Ariane
(2022):
Whole-Exome Sequencing Study of Consanguineous Parkinson's Disease Families and Related Phenotypes: Report of Twelve Novel Variants.
In: Journal of Molecular Neuroscience, Bd. 72, Nr. 12: S. 2486-2496
2021
Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Sadr-Nabavi, Ariane; Distelmaier, Felix; Krenn, Martin; Serranova, Tereza; Rektorova, Irena; Havrankova, Petra; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Brunet, Theresa; Berutti, Riccardo; Shariati, Mohammad; Shoeibi, Ali; Schneider, Susanne A.; Kuster, Alice; Baumann, Matthias; Weise, David; Wilbert, Friederike; Janzarik, Wibke G.; Eckenweiler, Matthias; Mall, Volker; Haslinger, Bernhard; Berweck, Steffen; Winkelmann, Juliane und Oexle, Konrad
(2021):
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
In: Movement Disorders, Bd. 36, Nr. 8: S. 1959-1964
[PDF, 488kB]
Zech, Michael; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Dincer, Yasemin; Sadr-Nabavi, Ariane; Serranova, Teresa; Rektorova, Irena; Havrankova, Petra; Ganai, Shahzaman; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Shariati, Mohammad; Shoeibi, Ali; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Berutti, Riccardo; Strom, Tim M.; Ceballos-Baumann, Andres; Mall, Volker; Haslinger, Bernhard; Jech, Robert und Winkelmann, Juliane
(2021):
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
In: Parkinsonism & Related Disorders, Bd. 84: S. 129-134