The importance of genetic testing for dystonia patients and translational research

Autor Pozojevic, Jelena, Beetz, Christian, Westenberger, Ana
Vydáno v J Neural Transm (Vienna) (2021)

Reply letter to Battke et al.

Autor Bertoli-Avella, Aida M., Beetz, Christian, Ameziane, Najim, Bauer, Peter
Vydáno v Eur J Hum Genet (2021)

A polymorphic Alu insertion that mediates distinct disease-associated deletions

Autor Jahic, Amir, Erichsen, Anne K, Deufel, Thomas, Tallaksen, Chantal M, Beetz, Christian
Vydáno v Eur J Hum Genet (2016)

Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I

Autor Breen, Catherine, Mercer, Jean, Jones, Simon A, Jahic, Amir, Heptinstall, Lesley, Tylee, Karen, Newman, William G, Beetz, Christian
Vydáno v Hum Genome Var (2016)

Novel Autosomal Recessive Splice-Altering Variant in PRKD1 Is Associated with Congenital Heart Disease

Autor Massadeh, Salam, Albeladi, Maha, Albesher, Nour, Alhabshan, Fahad, Kampe, Kapil Dev, Chaikhouni, Farah, Kabbani, Mohamed S., Beetz, Christian, Alaamery, Manal
Vydáno v Genes (Basel) (2021)

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay

Autor Jahic, Amir, Günther, Sven, Muschol, Nicole, Fossøy Stadheim, Barbro, Braaten, Øivind, Kjensli Hyldebrandt, Hanne, Kuiper, Gé‐Ann, Tylee, Karen, Wijburg, Frits A., Beetz, Christian
Vydáno v Mol Genet Genomic Med (2019)

Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements

Autor Braschinsky, Mark, Tamm, Riin, Beetz, Christian, Sachez-Ferrero, Elena, Raukas, Elve, Lüüs, Siiri-Merike, Gross-Paju, Katrin, Boillot, Catherine, Canzian, Federico, Metspalu, Andres, Haldre, Sulev
Vydáno 2010

Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots

Autor 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
Vydáno v Int J Mol Sci (2020)

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

Autor Jahic, Amir, Khundadze, Mukhran, Jaenisch, Nadine, Schüle, Rebecca, Klimpe, Sven, Klebe, Stephan, Frahm, Christiane, Kassubek, Jan, Stevanin, Giovanni, Schöls, Ludger, Brice, Alexis, Hübner, Christian A., Beetz, Christian
Vydáno v Orphanet J Rare Dis (2015)

Genetic characterization of the Albanian Gaucher disease patient population

Autor Cullufi, Paskal, Tabaku, Mirela, Velmishi, Virtut, Gjikopulli, Agim, Tomori, Sonila, Dervishi, Ermira, Tako, Aferdita, Leubauer, Anika, Westenberger, Ana, Cozma, Claudia, Beetz, Christian, Bauer, Peter, Wirth, Stefan, Rolfs, Arndt
Vydáno v JIMD Rep (2020)

Interleukin-4-Inducing Principle from Schistosoma mansoni Eggs Contains a Functional C-Terminal Nuclear Localization Signal Necessary for Nuclear Translocation in Mammalian Cells b...

Autor Kaur, Ishwinder, Schramm, Gabriele, Everts, Bart, Scholzen, Thomas, Kindle, Karin B., Beetz, Christian, Montiel-Duarte, Cristina, Blindow, Silke, Jones, Arwyn T., Haas, Helmut, Stolnik, Snjezana, Heery, David M., Falcone, Franco H.
Vydáno 2011

Novel clinical and genetic insight into CXorf56-associated intellectual disability

Autor Rocha, Maria Eugenia, Silveira, Tainá Regina Damaceno, Sasaki, Erina, Sás, Daíse Moreno, Lourenço, Charles Marques, Kandaswamy, Krishna K., Beetz, Christian, Rolfs, Arndt, Bauer, Peter, Reardon, Willie, Bertoli-Avella, Aida M.
Vydáno v Eur J Hum Genet (2019)

Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia

Autor Allison, Rachel, Edgar, James R., Pearson, Guy, Rizo, Tania, Newton, Timothy, Günther, Sven, Berner, Fiamma, Hague, Jennifer, Connell, James W., Winkler, Jürgen, Lippincott-Schwartz, Jennifer, Beetz, Christian, Winner, Beate, Reid, Evan
Vydáno v J Cell Biol (2017)

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis

Autor Arora, Veronica, Khan, Suliman, W. El-Hattab, Ayman, Dua Puri, Ratna, Rocha, Maria Eugenia, Merdzanic, Rijad, Paknia, Omid, Beetz, Christian, Rolfs, Arndt, Bertoli-Avella, Aida M., Bauer, Peter, Verma, Ishwar C.
Vydáno v J Am Soc Nephrol (2021)

Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy

Autor Maroofian, Reza, Sedmík, Jiří, Mazaheri, Neda, Scala, Marcello, Zaki, Maha S, Keegan, Liam P, Azizimalamiri, Reza, Issa, Mahmoud, Shariati, Gholamreza, Sedaghat, Alireza, Beetz, Christian, Bauer, Peter, Galehdari, Hamid, O’Connell, Mary A, Houlden, Henry
Vydáno v J Med Genet (2021)

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

Autor Beetz, Christian, Pieber, Thomas R., Hertel, Nicole, Schabhüttl, Maria, Fischer, Carina, Trajanoski, Slave, Graf, Elisabeth, Keiner, Silke, Kurth, Ingo, Wieland, Thomas, Varga, Rita-Eva, Timmerman, Vincent, Reilly, Mary M., Strom, Tim M., Auer-Grumbach, Michaela
Vydáno 2012

Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults

Autor Pathmanaban, Omar N., Sadler, Katherine V., Kamaly-Asl, Ian D., King, Andrew T., Rutherford, Scott A., Hammerbeck-Ward, Charlotte, McCabe, Martin G., Kilday, John-Paul, Beetz, Christian, Poplawski, Nicola K., Evans, D. Gareth, Smith, Miriam J.
Vydáno v JAMA Neurol (2017)

LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact

Autor Beetz, Christian, Westenberger, Ana, Al‐Ali, Ruslan, Ameziane, Najim, Alhashmi, Nadia, Boustany, Rose‐Mary, Al Mutairi, Fuad, Alfadhel, Majid, Al‐Hassnan, Zuhair, AlSayed, Moenaldeen, Kandaswamy, Krishna K., Paknia, Omid, Skrahina, Volha, Rolfs, Arndt, Bauer, Peter
Vydáno v Mov Disord (2021)

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

Autor Beetz, Christian, Johnson, Adam, Schuh, Amber L., Thakur, Seema, Varga, Rita-Eva, Fothergill, Thomas, Hertel, Nicole, Bomba-Warczak, Ewa, Thiele, Holger, Nürnberg, Gudrun, Altmüller, Janine, Saxena, Renu, Chapman, Edwin R., Dent, Erik W., Nürnberg, Peter, Audhya, Anjon
Vydáno 2013

Rapid Large-Scale COVID-19 Testing during Shortages

Autor Beetz, Christian, Skrahina, Volha, Förster, Toni M., Gaber, Hanaa, Paul, Jefri J., Curado, Filipa, Rolfs, Arndt, Bauer, Peter, Schäfer, Stephan, Weckesser, Volkmar, Lieu, Vivi, Radefeldt, Mandy, Pöppel, Claudia, Krake, Susann, Kandaswamy, Krishna K., Bruesehafer, Katja, Vogel, Florian
Vydáno v Diagnostics (Basel) (2020)