Publications:

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.

Journal Of Neurology

Palmio, Johanna J; Leonard-Louis, Sarah S; Sacconi, Sabrina S; Savarese, Marco M; Penttilä, Sini S; Semmler, Anna-Lena AL; Kress, Wolfram W; Mozaffar, Tahseen T; Lai, Tim T; Stojkovic, Tanya T; Berardo, Andres A; Reisin, Ricardo R; Attarian, Shahram S; Urtizberea, Andoni A; Cobo, Ana Maria AM; Maggi, Lorenzo L; Kurbatov, Sergei S; Nikitin, Sergei S; Milisenda, José C JC; Fatehi, Farzad F; Raimondi, Monika M; Silveira, Fernando F; Hackman, Peter P; Claeys, Kristl G KG; Udd, Bjarne B

Publication Date: 2019-03

Variant appearance in text: TTN: 95346_95354del; R31783_V31785del

PubMed Link: 30666435

Variant Present in the following documents:

• Main text
• 415_2019_Article_9187.pdf

View BVdb publication page