The importance of genetic testing for dystonia patients and translational research

द्वारा Pozojevic, Jelena, Beetz, Christian, Westenberger, Ana
में प्रकाशित J Neural Transm (Vienna) (2021)

Reply letter to Battke et al.

द्वारा Bertoli-Avella, Aida M., Beetz, Christian, Ameziane, Najim, Bauer, Peter
में प्रकाशित Eur J Hum Genet (2021)

A polymorphic Alu insertion that mediates distinct disease-associated deletions

द्वारा Jahic, Amir, Erichsen, Anne K, Deufel, Thomas, Tallaksen, Chantal M, Beetz, Christian
में प्रकाशित Eur J Hum Genet (2016)

Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I

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

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

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

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

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

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

द्वारा 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
प्रकाशित 2010

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

द्वारा 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
में प्रकाशित 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

द्वारा 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
में प्रकाशित Orphanet J Rare Dis (2015)

Genetic characterization of the Albanian Gaucher disease patient population

द्वारा 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
में प्रकाशित 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...

द्वारा 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.
प्रकाशित 2011

Novel clinical and genetic insight into CXorf56-associated intellectual disability

द्वारा 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.
में प्रकाशित Eur J Hum Genet (2019)

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

द्वारा 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
में प्रकाशित J Cell Biol (2017)

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis

द्वारा 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.
में प्रकाशित J Am Soc Nephrol (2021)

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

द्वारा 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
में प्रकाशित J Med Genet (2021)

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

द्वारा 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
प्रकाशित 2012

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

द्वारा 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.
में प्रकाशित JAMA Neurol (2017)

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

द्वारा 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
में प्रकाशित Mov Disord (2021)

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

द्वारा 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
प्रकाशित 2013

Rapid Large-Scale COVID-19 Testing during Shortages

द्वारा 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
में प्रकाशित Diagnostics (Basel) (2020)