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: 95126C>G; P31709R; rs869320739

PubMed Link: 30666435

Variant Present in the following documents:

• Main text
• 415_2019_Article_9187.pdf

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Increasing Role of Titin Mutations in Neuromuscular Disorders.

Journal Of Neuromuscular Diseases

Savarese, Marco M; Sarparanta, Jaakko J; Vihola, Anna A; Udd, Bjarne B; Hackman, Peter P

Publication Date: 2016-08-30

Variant appearance in text: TTN: 95126C>G

PubMed Link: 27854229

Variant Present in the following documents:

• Main text
• jnd-3-jnd160158.pdf

View BVdb publication page