1. A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation. Issue 5 (2nd February 2017) Authors: Vill, Katharina; Müller‐Felber, Wolfgang; Alhaddad, Bader; Strom, Tim M.; Teusch, Veronika; Weigand, Heike; Blaschek, Astrid; Meitinger, Thomas; Haack, Tobias B. Other Names: Silber Michael H. guestEditor.; Iranzo Alex guestEditor. Journal: Movement disorders Issue: Volume 32:Issue 5(2017) Page Start: 797 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical exome sequencing in early‐onset generalized dystonia and large‐scale resequencing follow‐up. Issue 4 (26th September 2016) Authors: Zech, Michael; Boesch, Sylvia; Jochim, Angela; Weber, Sandrina; Meindl, Tobias; Schormair, Barbara; Wieland, Thomas; Lunetta, Christian; Sansone, Valeria; Messner, Michael; Mueller, Joerg; Ceballos‐Baumann, Andres; Strom, Tim M.; Colombo, Roberto; Poewe, Werner; Haslinger, Bernhard; Winkelmann, J... Journal: Movement disorders Issue: Volume 32:Issue 4(2017) Page Start: 549 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinically relevant copy-number variants in exome sequencing data of patients with dystonia. (March 2021) Authors: Zech, Michael; Boesch, Sylvia; Škorvánek, Matej; Necpál, Ján; Švantnerová, Jana; Wagner, Matias; Dincer, Yasemin; Sadr-Nabavi, Ariane; Serranová, Tereza; Rektorová, Irena; Havránková, Petra; Ganai, Shahzaman; Mosejová, Alexandra; Příhodová, Iva; Šarláková, Jana; Kulcsarová, Kristína; Ulmanová, Ol... Journal: Parkinsonism & related disorders Issue: Volume 84(2021) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies. (19th July 2017) Authors: Feichtinger, René G.; Brunner-Krainz, Michaela; Alhaddad, Bader; Wortmann, Saskia B.; Kovacs-Nagy, Reka; Stojakovic, Tatjana; Erwa, Wolfgang; Resch, Bernhard; Windischhofer, Werner; Verheyen, Sarah; Uhrig, Sabine; Windpassinger, Christian; Locker, Felix; Makowski, Christine; Strom, Tim M.; Meitin... Other Names: Hüttemann Maik Academic Editor. Journal: Oxidative medicine and cellular longevity Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. CRIM1 haploinsufficiency causes defects in eye development in human and mouse. (5th January 2015) Authors: Beleggia, Filippo; Li, Yun; Fan, Jieqing; Elcioğlu, Nursel H.; Toker, Ebru; Wieland, Thomas; Maumenee, Irene H.; Akarsu, Nurten A.; Meitinger, Thomas; Strom, Tim M.; Lang, Richard; Wollnik, Bernd Journal: Human molecular genetics Issue: Volume 24:Number 8(2015:Apr. 15) Page Start: 2267 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. Issue 2 (14th November 2016) Authors: Dennert, Nicola; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Wohlleber, Eva; Albrecht, Beate; Ehret, Julia K.; Lüdecke, Hermann‐Josef; Suri, Mohnish; Carignani, Giulia; Renieri, Alessandra; Kukuk, Guido M.; Wieland, Thomas; Andrieux, Joris; Strom, Tim M.; Wieczorek, Dagmar; Dieux‐Coëslier,... Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: 435 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. De novo variants in neurodevelopmental disorders—experiences from a tertiary care center. Issue 1 (1st March 2021) Authors: Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M.; Westphal, Dominik S.; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpál, Ján; Havránková, Petra; Pavele... Journal: Clinical genetics Issue: Volume 100:Issue 1(2021) Page Start: 14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. (13th March 2015) Authors: Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C.; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohd... Journal: Annals of clinical and translational neurology Issue: Volume 2:Number 5(2015:May) Page Start: 492 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family. Issue 12 (20th August 2014) Authors: Zech, Michael; Castrop, Florian; Schormair, Barbara; Jochim, Angela; Wieland, Thomas; Gross, Nadine; Lichtner, Peter; Peters, Annette; Gieger, Christian; Meitinger, Thomas; Strom, Tim M.; Oexle, Konrad; Haslinger, Bernhard; Winkelmann, Juliane Journal: Movement disorders Issue: Volume 29:Issue 12(2014) Page Start: 1504 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. Issue 8 (5th May 2014) Authors: Platzer, Konrad; Hüning, Irina; Obieglo, Carolin; Schwarzmayr, Thomas; Gabriel, Rainer; Strom, Tim M.; Gillessen‐Kaesbach, Gabriele; Kaiser, Frank J. Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 1976 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗