Silent but significant - A synonymous SNV alters prognosis in Pompe disease

por Lukas, Jan, Hermann, Andreas, Giese, Anne-Katrin
Publicado 2019

White Matter Hyperintensity Burden Is Associated With Hippocampal Subfield Volume in Stroke

por Etherton, Mark R., Fotiadis, Panagiotis, Giese, Anne-Katrin, Iglesias, Juan E., Wu, Ona, Rost, Natalia S.
Publicado 2020

Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay

por Cozma, Claudia, Eichler, Sabrina, Wittmann, Gyula, Flores Bonet, Alba, Kramp, Guido Johannes, Giese, Anne-Katrin, Rolfs, Arndt
Publicado 2015

Erythropoietin and the effect of oxygen during proliferation and differentiation of human neural progenitor cells

por Giese, Anne-Katrin, Frahm, Jana, Hübner, Rayk, Luo, Jiankai, Wree, Andreas, Frech, Moritz J, Rolfs, Arndt, Ortinau, Stefanie
Publicado 2010

Fabry Disease – Underestimated in the Differential Diagnosis of Multiple Sclerosis?

por Böttcher, Tobias, Rolfs, Arndt, Tanislav, Christian, Bitsch, Andreas, Köhler, Wolfgang, Gaedeke, Jens, Giese, Anne-Katrin, Kolodny, Edwin H., Duning, Thomas
Publicado 2013

C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease

por Cozma, Claudia, Iurașcu, Marius-Ionuț, Eichler, Sabrina, Hovakimyan, Marina, Brandau, Oliver, Zielke, Susanne, Böttcher, Tobias, Giese, Anne-Katrin, Lukas, Jan, Rolfs, Arndt
Publicado 2017

Spatial Signature of White Matter Hyperintensities in Stroke Patients

por Schirmer, Markus D., Giese, Anne-Katrin, Fotiadis, Panagiotis, Etherton, Mark R., Cloonan, Lisa, Viswanathan, Anand, Greenberg, Steven M., Wu, Ona, Rost, Natalia S.
Publicado 2019

Rich-Club Organization: An Important Determinant of Functional Outcome After Acute Ischemic Stroke

por Schirmer, Markus D., Ktena, Sofia Ira, Nardin, Marco J., Donahue, Kathleen L., Giese, Anne-Katrin, Etherton, Mark R., Wu, Ona, Rost, Natalia S.
Publicado 2019

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease

por Lukas, Jan, Giese, Anne-Katrin, Markoff, Arseni, Grittner, Ulrike, Kolodny, Ed, Mascher, Hermann, Lackner, Karl J., Meyer, Wolfgang, Wree, Phillip, Saviouk, Viatcheslav, Rolfs, Arndt
Publicado 2013

Abnormal dynamic functional connectivity is linked to recovery after acute ischemic stroke

por Bonkhoff, Anna K., Schirmer, Markus D., Bretzner, Martin, Etherton, Mark, Donahue, Kathleen, Tuozzo, Carissa, Nardin, Marco, Giese, Anne‐Katrin, Wu, Ona, D. Calhoun, Vince, Grefkes, Christian, Rost, Natalia S.
Publicado 2021

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

por Giese, Anne-Katrin, Mascher, Hermann, Grittner, Ulrike, Eichler, Sabrina, Kramp, Guido, Lukas, Jan, te Vruchte, Danielle, Al Eisa, Nada, Cortina-Borja, Mario, Porter, Forbes D, Platt, Frances M, Rolfs, Arndt
Publicado 2015

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 Dis...

por 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
Publicado 2013

Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene

por Lukas, Jan, Torras, Joan, Navarro, Itziar, Giese, Anne-Katrin, Böttcher, Tobias, Mascher, Hermann, Lackner, Karl J., Fauler, Guenter, Paschke, Eduard, Cruzado, Josep M., Dudesek, Ales, Wittstock, Matthias, Meyer, Wolfgang, Rolfs, Arndt
Publicado 2012

Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease

por Lenders, Malte, Hennermann, Julia B., Kurschat, Christine, Rolfs, Arndt, Canaan-Kühl, Sima, Sommer, Claudia, Üçeyler, Nurcan, Kampmann, Christoph, Karabul, Nesrin, Giese, Anne-Katrin, Duning, Thomas, Stypmann, Jörg, Krämer, Johannes, Weidemann, Frank, Brand, Stefan-Martin, Wanner, Christoph, Brand, Eva
Publicado 2016

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease

por Seemann, Susanne, Ernst, Mathias, Cimmaruta, Chiara, Struckmann, Stephan, Cozma, Claudia, Koczan, Dirk, Knospe, Anne-Marie, Haake, Linda Rebecca, Citro, Valentina, Bräuer, Anja U., Andreotti, Giuseppina, Cubellis, Maria Vittoria, Fuellen, Georg, Hermann, Andreas, Giese, Anne-Katrin, Rolfs, Arndt, Lukas, Jan
Publicado 2020

White matter hyperintensity quantification in large-scale clinical acute ischemic stroke cohorts – The MRI-GENIE study

por Schirmer, Markus D., Dalca, Adrian V., Sridharan, Ramesh, Giese, Anne-Katrin, Donahue, Kathleen L., Nardin, Marco J., Mocking, Steven J.T., McIntosh, Elissa C., Frid, Petrea, Wasselius, Johan, Cole, John W., Holmegaard, Lukas, Jern, Christina, Jimenez-Conde, Jordi, Lemmens, Robin, Lindgren, Arne G., Meschia, James F., Roquer, Jaume, Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Thijs, Vincent, Woo, Daniel, Vagal, Achala, Xu, Huichun, Kittner, Steven J., McArdle, Patrick F., Mitchell, Braxton D., Rosand, Jonathan, Worrall, Bradford B., Wu, Ona, Golland, Polina, Rost, Natalia S.
Publicado 2019

Design and rationale for examining neuroimaging genetics in ischemic stroke: The MRI-GENIE study

por Giese, Anne-Katrin, Schirmer, Markus D., Donahue, Kathleen L., Cloonan, Lisa, Irie, Robert, Winzeck, Stefan, Bouts, Mark J.R.J., McIntosh, Elissa C., Mocking, Steven J., Dalca, Adrian V., Sridharan, Ramesh, Xu, Huichun, Frid, Petrea, Giralt-Steinhauer, Eva, Holmegaard, Lukas, Roquer, Jaume, Wasselius, Johan, Cole, John W., McArdle, Patrick F., Broderick, Joseph P., Jimenez-Conde, Jordi, Jern, Christina, Kissela, Brett M., Kleindorfer, Dawn O., Lemmens, Robin, Lindgren, Arne, Meschia, James F., Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Thijs, Vincent, Woo, Daniel, Worrall, Bradford B., Kittner, Steven J., Mitchell, Braxton D., Rosand, Jonathan, Golland, Polina, Wu, Ona, Rost, Natalia S.
Publicado 2017

Diffusion-Weighted Imaging, MR Angiography, and Baseline Data in a Systematic Multicenter Analysis of 3,301 MRI Scans of Ischemic Stroke Patients—Neuroradiological Review Within th...

por Drake, Mattias, Frid, Petrea, Hansen, Björn M., Wu, Ona, Giese, Anne-Katrin, Schirmer, Markus D., Donahue, Kathleen, Cloonan, Lisa, Irie, Robert E., Bouts, Mark J. R. J., McIntosh, Elissa C., Mocking, Steven J. T., Dalca, Adrian V., Sridharan, Ramesh, Xu, Huichun, Giralt-Steinhauer, Eva, Holmegaard, Lukas, Jood, Katarina, Roquer, Jaume, Cole, John W., McArdle, Patrick F., Broderick, Joseph P., Jiménez-Conde, Jordi, Jern, Christina, Kissela, Brett M., Kleindorfer, Dawn O., Lemmens, Robin, Meschia, James F., Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Thijs, Vincent, Woo, Daniel, Worrall, Bradford B., Kittner, Steven J., Mitchell, Braxton D., Rosand, Jonathan, Golland, Polina, Lindgren, Arne, Rost, Natalia S., Wassélius, Johan
Publicado 2020

Deep profiling of multiple ischemic lesions in a large, multi-center cohort: Frequency, spatial distribution, and associations to clinical characteristics

por Bonkhoff, Anna K., Ullberg, Teresa, Bretzner, Martin, Hong, Sungmin, Schirmer, Markus D., Regenhardt, Robert W., Donahue, Kathleen L., Nardin, Marco J., Dalca, Adrian V., Giese, Anne-Katrin, Etherton, Mark R., Hancock, Brandon L., Mocking, Steven J. T., McIntosh, Elissa C., Attia, John, Cole, John W., Donatti, Amanda, Griessenauer, Christoph J., Heitsch, Laura, Holmegaard, Lukas, Jood, Katarina, Jimenez-Conde, Jordi, Kittner, Steven J., Lemmens, Robin, Levi, Christopher R., McDonough, Caitrin W., Meschia, James F., Phuah, Chia-Ling, Ropele, Stefan, Rosand, Jonathan, Roquer, Jaume, Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Sousa, Alessandro, Stanne, Tara M., Strbian, Daniel, Tatlisumak, Turgut, Thijs, Vincent, Vagal, Achala, Woo, Daniel, Zand, Ramin, McArdle, Patrick F., Worrall, Bradford B., Jern, Christina, Lindgren, Arne G., Maguire, Jane, Wu, Ona, Frid, Petrea, Rost, Natalia S., Wasselius, Johan
Publicado 2022

The relevance of rich club regions for functional outcome post‐stroke is enhanced in women

por Bonkhoff, Anna K., Schirmer, Markus D., Bretzner, Martin, Hong, Sungmin, Regenhardt, Robert W., Donahue, Kathleen L., Nardin, Marco J., Dalca, Adrian V., Giese, Anne‐Katrin, Etherton, Mark R., Hancock, Brandon L., Mocking, Steven J. T., McIntosh, Elissa C., Attia, John, Cole, John W., Donatti, Amanda, Griessenauer, Christoph J., Heitsch, Laura, Holmegaard, Lukas, Jood, Katarina, Jimenez‐Conde, Jordi, Kittner, Steven J., Lemmens, Robin, Levi, Christopher R., McDonough, Caitrin W., Meschia, James F., Phuah, Chia‐Ling, Ropele, Stefan, Rosand, Jonathan, Roquer, Jaume, Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Sousa, Alessandro, Stanne, Tara M., Strbian, Daniel, Tatlisumak, Turgut, Thijs, Vincent, Vagal, Achala, Wasselius, Johan, Woo, Daniel, Zand, Ramin, McArdle, Patrick F., Worrall, Bradford B., Jern, Christina, Lindgren, Arne G., Maguire, Jane, Wu, Ona, Rost, Natalia S.
Publicado 2022