1. A new titinopathy: Childhood-juvenile onset Emery-Dreifuss–like phenotype without cardiomyopathy. (15th December 2015) Authors: De Cid, Rafael; Ben Yaou, Rabah; Roudaut, Carinne; Charton, Karine; Baulande, Sylvain; Leturcq, France; Romero, Norma Beatriz; Malfatti, Edoardo; Beuvin, Maud; Vihola, Anna; Criqui, Audrey; Nelson, Isabelle; Nectoux, Juliette; Ben Aim, Laurène; Caloustian, Christophe; Olaso, Robert; Udd, Bjarne; ... Journal: Neurology Issue: Volume 85:Number 24(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
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. 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) ↗
5. 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) ↗
6. 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) ↗
7. 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) ↗
8. New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy. (August 2019) Authors: Al-Tahan, Sejad; Weiss, Lan; Yu, Howard; Tang, Sha; Saporta, Mario; Vihola, Anna; Mozaffar, Tahseen; Udd, Bjarne; Kimonis, Virginia Journal: Neurology Issue: Volume 5:Number 4(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. 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) ↗