1. Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11. Issue 10 (22nd September 2022) Authors: Johari, Mridul; Papadimas, George; Papadopoulos, Constantinos; Xirou, Sophia; Kanavaki, Aikaterini; Chrysanthou‐Piterou, Margarita; Rusanen, Salla; Savarese, Marco; Hackman, Peter; Udd, Bjarne Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 10(2022) Page Start: 1660 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Copy number variation analysis increases the diagnostic yield in muscle diseases. (December 2017) Authors: Välipakka, Salla; Savarese, Marco; Johari, Mridul; Sagath, Lydia; Arumilli, Meharji; Kiiski, Kirsi; Sáenz, Amets; de Munain, Adolfo Lopez; Cobo, Ana-Maria; Pelin, Katarina; Udd, Bjarne; Hackman, Peter Journal: Neurology Issue: Volume 3:Number 6(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene. (27th December 2021) Authors: Hackman, Peter; Rusanen, Salla M.; Johari, Mridul; Vihola, Anna; Jonson, Per Harald; Sarparanta, Jaakko; Donner, Kati; Lahermo, Päivi; Koivunen, Sampo; Luque, Helena; Soininen, Merja; Mahjneh, Ibrahim; Auranen, Mari; Arumilli, Meharji; Savarese, Marco; Udd, Bjarne Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene. (December 2021) Authors: Hackman, Peter; Rusanen, Salla M.; Johari, Mridul; Vihola, Anna; Jonson, Per Harald; Sarparanta, Jaakko; Donner, Kati; Lahermo, Päivi; Koivunen, Sampo; Luque, Helena; Soininen, Merja; Mahjneh, Ibrahim; Auranen, Mari; Arumilli, Meharji; Savarese, Marco; Udd, Bjarne Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mutation update for the ACTN2 gene. Issue 12 (27th September 2022) Authors: Ranta‐aho, Johanna; Olive, Montse; Vandroux, Marie; Roticiani, Giorgia; Dominguez, Cristina; Johari, Mridul; Torella, Annalaura; Böhm, Johann; Turon, Janina; Nigro, Vincenzo; Hackman, Peter; Laporte, Jocelyn; Udd, Bjarne; Savarese, Marco Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1745 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness. (10th October 2021) Authors: Savarese, Marco; Vihola, Anna; Jokela, Manu E.; Huovinen, Sanna Pauliina; Gerevini, Simonetta; Torella, Annalaura; Johari, Mridul; Scarlato, Marina; Jonson, Per Harald; Onore, Maria Elena; Hackman, Peter; Gautel, Mathias; Nigro, Vincenzo; Previtali, Stefano Carlo; Udd, Bjarne Journal: Neurology Issue: Volume 7:Number 5(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness. (October 2021) Authors: Savarese, Marco; Vihola, Anna; Jokela, Manu E.; Huovinen, Sanna Pauliina; Gerevini, Simonetta; Torella, Annalaura; Johari, Mridul; Scarlato, Marina; Jonson, Per Harald; Onore, Maria Elena; Hackman, Peter; Gautel, Mathias; Nigro, Vincenzo; Previtali, Stefano Carlo; Udd, Bjarne Journal: Neurology Issue: Volume 7:Number 5(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Issue 2 (3rd December 2019) Authors: Bryen, Samantha J.; Ewans, Lisa J.; Pinner, Jason; MacLennan, Suzanna C.; Donkervoort, Sandra; Castro, Diana; Töpf, Ana; O'Grady, Gina; Cummings, Beryl; Chao, Katherine R.; Weisburd, Ben; Francioli, Laurent; Faiz, Fathimath; Bournazos, Adam M.; Hu, Ying; Grosmann, Carla; Malicki, Denise M.; Doyle... Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗