1. 3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients. Issue 6 (25th January 2013) Authors: Wortmann, Saskia B.; Kluijtmans, Leo A. J.; Rodenburg, Richard J.; Sass, Jörn Oliver; Nouws, Jessica; van Kaauwen, Edwin P.; Kleefstra, Tjitske; Tranebjaerg, Lisbeth; de Vries, Maaike C.; Isohanni, Pirjo; Walter, Katharina; Alkuraya, Fowzan S.; Smuts, Izelle; Reinecke, Carolus J.; van der Westhui... Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 6(2013) Page Start: 913 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A complex genomic locus drives mtDNA replicase POLG expression to its disease‐related nervous system regions. Issue 1 (6th November 2017) Authors: Nikkanen, Joni; Landoni, Juan Cruz; Balboa, Diego; Haugas, Maarja; Partanen, Juha; Paetau, Anders; Isohanni, Pirjo; Brilhante, Virginia; Suomalainen, Anu Journal: EMBO molecular medicine Issue: Volume 10:Issue 1(2018) Page Start: 13 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy. (2nd April 2019) Authors: Jokela, Manu; Tasca, Giorgio; Vihola, Anna; Mercuri, Eugenio; Jonson, Per-Harald; Lehtinen, Sara; Välipakka, Salla; Pane, Marika; Donati, Maria; Johari, Mridul; Savarese, Marco; Huovinen, Sanna; Isohanni, Pirjo; Palmio, Johanna; Hartikainen, Päivi; Udd, Bjarne Journal: Neurology Issue: Volume 92:Number 14(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018) Authors: Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe... Journal: Human mutation Issue: Volume 39:Issue 4(2018) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018) Authors: Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe... Journal: Human mutation Issue: Volume 39:Issue 4(2018) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cost-effectiveness of whole-exome sequencing in progressive neurological disorders of children. (January 2022) Authors: Aaltio, Juho; Hyttinen, Virva; Kortelainen, Mika; Frederix, Gerardus W.J.; Lönnqvist, Tuula; Suomalainen, Anu; Isohanni, Pirjo Journal: European journal of paediatric neurology Issue: Volume 36(2022) Page Start: 30 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome. (22nd June 2017) Authors: Matilainen, Sanna; Carroll, Christopher J.; Richter, Uwe; Euro, Liliya; Pohjanpelto, Max; Paetau, Anders; Isohanni, Pirjo; Suomalainen, Anu Journal: Human molecular genetics Issue: Volume 26:Number 17(2017:Sep. 01) Page Start: 3352 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease. Issue 2 (21st September 2020) Authors: Lehtonen, Jenni M.; Auranen, Mari; Darin, Niklas; Sofou, Kalliopi; Bindoff, Laurence; Hikmat, Omar; Uusimaa, Johanna; Vieira, Päivi; Tulinius, Már; Lönnqvist, Tuula; de Coo, Irenaeus F.; Suomalainen, Anu; Isohanni, Pirjo Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 2(2021) Page Start: 469 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype. (March 2022) Authors: Ignatius, Erika; Puosi, Riina; Palomäki, Maarit; Forsbom, Noora; Pohjanpelto, Max; Alitalo, Tiina; Anttonen, Anna-Kaisa; Avela, Kristiina; Haataja, Leena; Carroll, Christopher J.; Lönnqvist, Tuula; Isohanni, Pirjo Journal: European journal of paediatric neurology Issue: Volume 37(2022) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Elevated cerebrospinal fluid protein in POLG‐related epilepsy: Diagnostic and prognostic implications. (19th June 2018) Authors: Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal M. E.; Brodtkorb, Eylert; Fiskerstrand, Torunn; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence A. Journal: Epilepsia Issue: Volume 59:issue 8(2018) Page Start: 1595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗