1. Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations. Issue 6 (3rd April 2019) Authors: Savarese, Marco; Palmio, Johanna; Poza, Juan José; Weinberg, Jan; Olive, Montse; Cobo, Ana Maria; Vihola, Anna; Jonson, Per Harald; Sarparanta, Jaakko; García‐Bragado, Federico; Urtizberea, Jon Andoni; Hackman, Peter; Udd, Bjarne Journal: Annals of neurology Issue: Volume 85:Issue 6(2019) Page Start: 899 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family. Issue 4 (7th May 2015) Authors: Palmio, Johanna; Evilä, Anni; Bashir, Ayat; Norwood, Fiona; Viitaniemi, Kati; Vihola, Anna; Huovinen, Sanna; Straub, Volker; Hackman, Peter; Hirano, Michio; Bushby, Kate; Udd, Bjarne Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87:Issue 4(2016) Page Start: 448 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Hereditary myopathy with early respiratory failure: occurrence in various populations. Issue 3 (19th April 2013) Authors: Palmio, Johanna; Evilä, Anni; Chapon, Françoise; Tasca, Giorgio; Xiang, Fengqing; Brådvik, Björn; Eymard, Bruno; Echaniz-Laguna, Andoni; Laporte, Jocelyn; Kärppä, Mikko; Mahjneh, Ibrahim; Quinlivan, Rosaline; Laforêt, Pascal; Damian, Maxwell; Berardo, Andres; Taratuto, Ana Lia; Bueri, Jose Antoni... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 85:Issue 3(2014) Page Start: 345 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
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. 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) ↗
7. The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. (5th July 2016) Authors: Savarese, Marco; Di Fruscio, Giuseppina; Torella, Annalaura; Fiorillo, Chiara; Magri, Francesca; Fanin, Marina; Ruggiero, Lucia; Ricci, Giulia; Astrea, Guja; Passamano, Luigia; Ruggieri, Alessandra; Ronchi, Dario; Tasca, Giorgio; D'Amico, Adele; Janssens, Sandra; Farina, Olimpia; Mutarelli, Margh... Journal: Neurology Issue: Volume 87:Number 1(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. (26th January 2016) Authors: Ghaoui, Roula; Palmio, Johanna; Brewer, Janice; Lek, Monkol; Needham, Merrilee; Evilä, Anni; Hackman, Peter; Jonson, Per-Harald; Penttilä, Sini; Vihola, Anna; Huovinen, Sanna; Lindfors, Mikaela; Davis, Ryan L.; Waddell, Leigh; Kaur, Simran; Yiannikas, Con; North, Kathryn; Clarke, Nigel; MacArthur... Journal: Neurology Issue: Volume 86:Number 4(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. 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) ↗