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. 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) ↗
3. Atypical phenotypes in titinopathies explained by second titin mutations. Issue 2 (24th February 2014) Authors: Evilä, Anni; Vihola, Anna; Sarparanta, Jaakko; Raheem, Olayinka; Palmio, Johanna; Sandell, Satu; Eymard, Bruno; Illa, Isabel; Rojas‐Garcia, Ricard; Hankiewicz, Karolina; Negrão, Luis; Löppönen, Tuija; Nokelainen, Pekka; Kärppä, Mikko; Penttilä, Sini; Screen, Mark; Suominen, Tiina; Richard, Isabel... Journal: Annals of neurology Issue: Volume 75:Issue 2(2014:Feb.) Page Start: 230 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Issue 6 (27th July 2018) Authors: Oates, Emily C.; Jones, Kristi J.; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; Smith, John E.; Ware, James S.; Yau, Kyle S.; Swanson, Lindsay C.; Whiffin, Nicola; Peduto, Anthony J.; Bournazos, Adam; Waddell, Leigh B.; Farrar, Michelle A.; Sampaio, Hugo A.; Teoh, Hooi Ling; Lamont, Phi... Journal: Annals of neurology Issue: Volume 83:Issue 6(2018) Page Start: 1105 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
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. 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) ↗
8. 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) ↗
9. Long‐term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy. (8th February 2023) Authors: Lillback, Victoria; Savarese, Marco; Sandholm, Niina; Hackman, Peter; Udd, Bjarne Journal: European journal of neurology Issue: Volume 30:Number 4(2023) Page Start: 1080 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) ↗