The importance of genetic testing for dystonia patients and translational research

por Pozojevic, Jelena, Beetz, Christian, Westenberger, Ana
Publicado 2021

Reply letter to Battke et al.

por Bertoli-Avella, Aida M., Beetz, Christian, Ameziane, Najim, Bauer, Peter
Publicado 2021

Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I

por Breen, Catherine, Mercer, Jean, Jones, Simon A, Jahic, Amir, Heptinstall, Lesley, Tylee, Karen, Newman, William G, Beetz, Christian
Publicado 2016

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

por Massadeh, Salam, Albeladi, Maha, Albesher, Nour, Alhabshan, Fahad, Kampe, Kapil Dev, Chaikhouni, Farah, Kabbani, Mohamed S., Beetz, Christian, Alaamery, Manal
Publicado 2021

Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease

por Dinur, Tama, Bauer, Peter, Beetz, Christian, Cozma, Claudia, Becker-Cohen, Michal, Istaiti, Majdolen, Rolfs, Arndt, Skrahina, Volha, Zimran, Ari, Revel-Vilk, Shoshana
Publicado 2023

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

por Jahic, Amir, Günther, Sven, Muschol, Nicole, Fossøy Stadheim, Barbro, Braaten, Øivind, Kjensli Hyldebrandt, Hanne, Kuiper, Gé‐Ann, Tylee, Karen, Wijburg, Frits A., Beetz, Christian
Publicado 2019

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

por 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
Publicado 2010

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

por 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
Publicado 2022

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

por 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
Publicado 2020

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

por 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
Publicado 2015

Genetic characterization of the Albanian Gaucher disease patient population

por 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
Publicado 2020

Novel clinical and genetic insight into CXorf56-associated intellectual disability

por 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.
Publicado 2019

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

por 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
Publicado 2017

Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation

por Khundadze, Mukhran, Ribaudo, Federico, Hussain, Adeela, Stahlberg, Henry, Brocke-Ahmadinejad, Nahal, Franzka, Patricia, Varga, Rita-Eva, Zarkovic, Milena, Pungsrinont, Thanakorn, Kokal, Miriam, Ganley, Ian G., Beetz, Christian, Sylvester, Marc, Hübner, Christian A.
Publicado 2021

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

por 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
Publicado 2021

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

por 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
Publicado 2021

Rapid Large-Scale COVID-19 Testing during Shortages

por 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
Publicado 2020

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

por Zaki, Maha S., Accogli, Andrea, Mirzaa, Ghayda, Rahman, Fatima, Mohammed, Hiba, Porras-Hurtado, Gloria Liliana, Efthymiou, Stephanie, Maqbool, Shazia, Shukla, Anju, Vincent, John B., Hussain, Abrar, Mir, Asif, Beetz, Christian, Leubauer, Anika, Houlden, Henry, Gleeson, Joseph G., Maroofian, Reza
Publicado 2021

Prevalence of Fabry Disease among Patients with Parkinson's Disease

por Lackova, Alexandra, Beetz, Christian, Oppermann, Sebastian, Bauer, Peter, Pavelekova, Petra, Lorincova, Tatiana, Ostrozovicova, Miriam, Kulcsarova, Kristina, Cobejova, Jana, Cobej, Martin, Levicka, Petra, Liesenerova, Simona, Sendekova, Daniela, Sukovska, Viktoria, Gdovinova, Zuzana, Han, Vladimir, Rizig, Mie, Houlden, Henry, Skorvanek, Matej
Publicado 2022

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center

por Rus, Corina-Marcela, Weissensteiner, Thomas, Pereira, Catarina, Susnea, Iuliana, Danquah, Bright D., Morales Torres, Galina, Rocha, Maria Eugenia, Cozma, Claudia, Saravanakumar, Deepa, Mannepalli, Sumanth, Kandaswamy, Krishna K., Di Bucchianico, Sebastiano, Zimmermann, Ralf, Rolfs, Arndt, Bauer, Peter, Beetz, Christian
Publicado 2022