1. Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy. (June 2018) Authors: Sainio, Markus T.; Ylikallio, Emil; Mäenpää, Laura; Lahtela, Jenni; Mattila, Pirkko; Auranen, Mari; Palmio, Johanna; Tyynismaa, Henna Journal: Neurology Issue: Volume 4:Number 3(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Analysis of Mitochondrial Protein Synthesis: De Novo Translation, Steady‐State Levels, and Assembled OXPHOS Complexes. Issue 1 (31st July 2018) Authors: Hilander, Taru; Konovalova, Svetlana; Terzioglu, Mügen; Tyynismaa, Henna Editors: Bus, James S.; Costa, Lucio G.; Hodgson, Ernest; Lawrence, David A.; Reed, Donald J. Journal: Current protocols in toxicology Issue: Volume 77:Issue 1(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients. Issue 3 (3rd November 2016) Authors: Penttilä, Sini; Jokela, Manu; Saukkonen, Anna Maija; Toivanen, Jari; Palmio, Johanna; Lähdesmäki, Janne; Sandell, Satu; Shcherbii, Mariia; Auranen, Mari; Ylikallio, Emil; Tyynismaa, Henna; Udd, Bjarne Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 88:Issue 3(2017) Page Start: 272 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease. (June 2015) Authors: Auranen, Mari; Ylikallio, Emil; Shcherbii, Maria; Paetau, Anders; Kiuru-Enari, Sari; Toppila, Jussi P.; Tyynismaa, Henna Journal: Neurology Issue: Volume 1:Number 1(2015) Page Start: 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. 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) ↗
7. De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy. Issue 1 (27th November 2014) Authors: Lee, Jae‐Ran; Srour, Myriam; Kim, Doyoun; Hamdan, Fadi. F.; Lim, So‐Hee; Brunel‐Guitton, Catherine; Décarie, Jean‐Claude; Rossignol, Elsa; Mitchell, Grant A.; Schreiber, Allison; Moran, Rocio; Van Haren, Keith; Richardson, Randal; Nicolai, Joost; Oberndorff, Karin M.E.J.; Wagner, Justin D.; Boyco... Journal: Human mutation Issue: Volume 36:Issue 1(2015:Jan.) Page Start: 69 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. (23rd March 2020) Authors: Woldegebriel, Rosa; Kvist, Jouni; Andersson, Noora; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Bijlsma, Emilia K; Hoffer, Mariëtte J V; Ryan, Monique M; Stark, Zornitza; Walsh, Maie; Cuppen, Inge; van den Boogaard, Marie-Jose´ H; Bharucha-Goebel, Diana; Donkervoort, Sandra; Winchester, Sara... Journal: Human molecular genetics Issue: Volume 29:Number 9(2020) Page Start: 1426 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease. Issue 10 (19th September 2020) Authors: Rönkkö, Julius; Molchanova, Svetlana; Revah‐Politi, Anya; Pereira, Elaine M.; Auranen, Mari; Toppila, Jussi; Kvist, Jouni; Ludwig, Anastasia; Neumann, Julika; Bultynck, Geert; Humblet‐Baron, Stéphanie; Liston, Adrian; Paetau, Anders; Rivera, Claudio; Harms, Matthew B.; Tyynismaa, Henna; Ylikallio... Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 10(2020) Page Start: 1962 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Editing activity for eliminating mischarged tRNAs is essential in mammalian mitochondria. Issue 2 (8th December 2017) Authors: Hilander, Taru; Zhou, Xiao-Long; Konovalova, Svetlana; Zhang, Fu-Ping; Euro, Liliya; Chilov, Dmitri; Poutanen, Matti; Chihade, Joseph; Wang, En-Duo; Tyynismaa, Henna Journal: Nucleic acids research Issue: Volume 46:Issue 2(2018) Page Start: 849 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗