1. A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. (24th October 2018) Authors: Jackson, Christopher B; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André Journal: Human molecular genetics Issue: Volume 28:Number 4(2019) Page Start: 639 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient. Issue 6 (28th April 2022) Authors: Gschwind, Markus; Garcia Segarra, Nuria; Schaller, André; Bolognini, Ramona; Nuoffer, Jean‐Marc; Hourez, Raphael; Deprez, Manuel; Lhermitte, Benoit; Maeder, Philippe; Tran, Christel; Kuntzer, Thierry Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 6(2022) Page Start: 888 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Late‐onset severe long QT syndrome. Issue 4 (30th November 2017) Authors: Asatryan, Babken; Schaller, André; Bartholdi, Deborah; Medeiros‐Domingo, Argelia Journal: Annals of noninvasive electrocardiology Issue: Volume 23:Issue 4(2018:Jul.) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms. (2nd January 2020) Authors: Vaclavik, Veronika; Naderi, Francine; Schaller, André; Escher, Pascal Journal: Ophthalmic genetics Issue: Volume 41:Number 1(2020) Page Start: 73 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic. (December 2016) Authors: Pröbstel, Anne-Katrin; Schaller, André; Lieb, Johanna; Hench, Juergen; Frank, Stephan; Fuhr, Peter; Kappos, Ludwig; Sinnreich, Michael Journal: Neurology Issue: Volume 2:Number 6(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. Issue 3 (23rd December 2013) Authors: Jackson, Christopher Benjamin; Nuoffer, Jean-Marc; Hahn, Dagmar; Prokisch, Holger; Haberberger, Birgit; Gautschi, Matthias; Häberli, Annemarie; Gallati, Sabina; Schaller, André Journal: Journal of medical genetics Issue: Volume 51:Issue 3(2014) Page Start: 170 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel mitochondrial tRNAIle m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. Issue 10 (17th July 2014) Authors: Jackson, Christopher B; Neuwirth, Christoph; Hahn, Dagmar; Nuoffer, J-M; Frank, Stephan; Gallati, Sabina; Schaller, André Journal: British journal of ophthalmology Issue: Volume 98:Issue 10(2014) Page Start: 1453 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Phenotypic Spectrum of HCN4 Mutations: A Clinical Case. (February 2018) Authors: Servatius, Helge; Porro, Alessandro; Pless, Stephan A.; Schaller, André; Asatryan, Babken; Tanner, Hildegard; de Marchi, Stefano F.; Roten, Laurent; Seiler, Jens; Haeberlin, Andreas; Baldinger, Samuel H.; Noti, Fabian; Lam, Anna; Fuhrer, Juerg; Moroni, Anna; Medeiros-Domingo, Argelia Journal: Circulation Issue: Volume 11:Number 2(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Rare Case of Transcutaneous Oxygen Desaturation in a Cancer Patient: A Case Report and Diagnostic Approach for a Recurrent Problem. Issue 4 (15th February 2019) Authors: Bachmann, Kaspar F.; Nebiker, Mathias; Johner, Caroline; Bregy, Rachel; Schaller, André; Novak, Urban; Jakob, Stephan M. Journal: A & A practice Issue: Volume 12:Issue 4(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗