Contribution of Established Stroke Risk Factors to the Burden of Stroke in Young Adults
Aigner, Annette, Grittner, Ulrike, Rolfs, Arndt, Norrving, Bo, Siegerink, Bob, Busch, Markus A
Published in Stroke (1970) (01.07.2017)
Published in Stroke (1970) (01.07.2017)
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Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
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Published in European journal of human genetics : EJHG (01.01.2021)
Published in European journal of human genetics : EJHG (01.01.2021)
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Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
Laabs, Björn-Hergen, Klein, Christine, Pozojevic, Jelena, Domingo, Aloysius, Brüggemann, Norbert, Grütz, Karen, Rosales, Raymond L., Jamora, Roland Dominic, Saranza, Gerard, Diesta, Cid Czarina E., Wittig, Michael, Schaake, Susen, Dulovic-Mahlow, Marija, Quismundo, Jana, Otto, Pia, Acuna, Patrick, Go, Criscely, Sharma, Nutan, Multhaupt-Buell, Trisha, Müller, Ulrich, Hanssen, Henrike, Kilpert, Fabian, Franke, Andre, Rolfs, Arndt, Bauer, Peter, Dobričić, Valerija, Lohmann, Katja, Ozelius, Laurie J., Kaiser, Frank J., König, Inke R., Westenberger, Ana
Published in Nature communications (28.05.2021)
Published in Nature communications (28.05.2021)
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The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings
Skrahina, Volha, Gaber, Hanaa, Vollstedt, Eva‐Juliane, Förster, Toni M., Usnich, Tatiana, Curado, Filipa, Brüggemann, Norbert, Paul, Jefri, Bogdanovic, Xenia, Zülbahar, Selen, Olmedillas, Maria, Skobalj, Snezana, Ameziane, Najim, Bauer, Peter, Csoti, Ilona, Koleva‐Alazeh, Natalia, Grittner, Ulrike, Westenberger, Ana, Kasten, Meike, Beetz, Christian, Klein, Christine, Rolfs, Arndt
Published in Movement disorders (01.04.2021)
Published in Movement disorders (01.04.2021)
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Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease
Lukas, Jan, Giese, Anne-Katrin, Markoff, Arseni, Grittner, Ulrike, Kolodny, Ed, Mascher, Hermann, Lackner, Karl J, Meyer, Wolfgang, Wree, Phillip, Saviouk, Viatcheslav, Rolfs, Arndt
Published in PLoS genetics (01.08.2013)
Published in PLoS genetics (01.08.2013)
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Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients
Rolfs, Arndt, Giese, Anne-Katrin, Grittner, Ulrike, Mascher, Daniel, Elstein, Deborah, Zimran, Ari, Böttcher, Tobias, Lukas, Jan, Hübner, Rayk, Gölnitz, Uta, Röhle, Anja, Dudesek, Ales, Meyer, Wolfgang, Wittstock, Matthias, Mascher, Hermann
Published in PloS one (20.11.2013)
Published in PloS one (20.11.2013)
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The definition of neuronopathic Gaucher disease
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Published in Journal of inherited metabolic disease (01.09.2020)
Published in Journal of inherited metabolic disease (01.09.2020)
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Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease
Hurvitz, Noa, Dinur, Tama, Becker-Cohen, Michal, Cozma, Claudia, Hovakimyan, Marina, Oppermann, Sebastian, Demuth, Laura, Rolfs, Arndt, Abramov, Aya, Zimran, Ari, Revel-Vilk, Shoshana
Published in International journal of molecular sciences (21.06.2019)
Published in International journal of molecular sciences (21.06.2019)
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A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism
Westenberger, Ana, Reyes, Charles Jourdan, Saranza, Gerard, Dobricic, Valerija, Hanssen, Henrike, Domingo, Aloysius, Laabs, Björn‐Hergen, Schaake, Susen, Pozojevic, Jelena, Rakovic, Aleksandar, Grütz, Karen, Begemann, Kimberly, Walter, Uwe, Dressler, Dirk, Bauer, Peter, Rolfs, Arndt, Münchau, Alexander, Kaiser, Frank J., Ozelius, Laurie J., Jamora, Roland Dominic, Rosales, Raymond L., Diesta, Cid Czarina E., Lohmann, Katja, König, Inke R., Brüggemann, Norbert, Klein, Christine
Published in Annals of neurology (01.06.2019)
Published in Annals of neurology (01.06.2019)
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Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations
Dinur, Tama, Grittner, Ulrike, Revel-Vilk, Shoshana, Becker-Cohen, Michal, Istaiti, Majdolen, Cozma, Claudia, Rolfs, Arndt, Zimran, Ari
Published in International journal of molecular sciences (19.07.2021)
Published in International journal of molecular sciences (19.07.2021)
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Organ Weights in NPC1 Mutant Mice Partly Normalized by Various Pharmacological Treatment Approaches
Antipova, Veronica, Steinhoff, Lisa-Marie, Holzmann, Carsten, Rolfs, Arndt, Hempel, Carlos Junior, Witt, Martin, Wree, Andreas
Published in International journal of molecular sciences (29.12.2022)
Published in International journal of molecular sciences (29.12.2022)
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Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat
Braunstein, Hila, Papazian, Maria, Maor, Gali, Lukas, Jan, Rolfs, Arndt, Horowitz, Mia
Published in International journal of molecular sciences (07.10.2020)
Published in International journal of molecular sciences (07.10.2020)
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Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
Dinur, Tama, Bauer, Peter, Beetz, Christian, Kramp, Guido, Cozma, Claudia, Iurașcu, Marius-Ionuț, Becker-Cohen, Michal, Istaiti, Majdolen, Rolfs, Arndt, Zimran, Ari, Revel-Vilk, Shoshana
Published in International journal of molecular sciences (30.01.2022)
Published in International journal of molecular sciences (30.01.2022)
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Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment
Trinh, Joanne, Imhoff, Sophie, Dulovic-Mahlow, Marija, Kandaswamy, Krishna Kumar, Tadic, Vera, Schäfer, Jochen, Dobricic, Valerija, Nolte, Achim, Werber, Martin, Rolfs, Arndt, Münchau, Alexander, Klein, Christine, Lohmann, Katja, Brüggemann, Norbert
Published in Journal of neurology (01.03.2020)
Published in Journal of neurology (01.03.2020)
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Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population
Bauer, Peter, Kandaswamy, Krishna Kumar, Weiss, Maximilian E.R., Paknia, Omid, Werber, Martin, Bertoli-Avella, Aida M., Yüksel, Zafer, Bochinska, Malgorzata, Oprea, Gabriela E., Kishore, Shivendra, Weckesser, Volkmar, Karges, Ellen, Rolfs, Arndt
Published in Genetics in medicine (01.01.2019)
Published in Genetics in medicine (01.01.2019)
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AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability
Brechet, Aline, Buchert, Rebecca, Schwenk, Jochen, Boudkkazi, Sami, Zolles, Gerd, Siquier-Pernet, Karine, Schaber, Irene, Bildl, Wolfgang, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Reis, Andre, Sticht, Heinrich, Al-Sanna'a, Nouriya, Rolfs, Arndt, Kulik, Akos, Schulte, Uwe, Colleaux, Laurence, Abou Jamra, Rami, Fakler, Bernd
Published in Nature communications (04.07.2017)
Published in Nature communications (04.07.2017)
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Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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Genome editing in induced pluripotent stem cells rescues TAF1 levels in X‐linked dystonia‐parkinsonism
Rakovic, Aleksandar, Domingo, Aloysius, Grütz, Karen, Kulikovskaja, Leonora, Capetian, Philipp, Cowley, Sally A., Lenz, Insa, Brüggemann, Norbert, Rosales, Raymond, Jamora, Dominic, Rolfs, Arndt, Seibler, Philip, Westenberger, Ana, König, Inke, Klein, Christine
Published in Movement disorders (01.07.2018)
Published in Movement disorders (01.07.2018)
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Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots
Cozma, Claudia, Cullufi, Paskal, Kramp, Guido, Hovakimyan, Marina, Velmishi, Virtut, Gjikopulli, Agim, Tomori, Sonila, Fischer, Steffen, Oppermann, Sebastian, Grittner, Ulrike, Bauer, Peter, Beetz, Christian, Rolfs, Arndt
Published in International journal of molecular sciences (27.06.2020)
Published in International journal of molecular sciences (27.06.2020)
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