Publications:

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: 106978C>T

PubMed Link: 27854229

Variant Present in the following documents:

• Main text
• jnd-3-jnd160158.pdf

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A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.

Neurology

De Cid, Rafael R; Ben Yaou, Rabah R; Roudaut, Carinne C; Charton, Karine K; Baulande, Sylvain S; Leturcq, France F; Romero, Norma Beatriz NB; Malfatti, Edoardo E; Beuvin, Maud M; Vihola, Anna A; Criqui, Audrey A; Nelson, Isabelle I; Nectoux, Juliette J; Ben Aim, Laurène L; Caloustian, Christophe C; Olaso, Robert R; Udd, Bjarne B; Bonne, Gisèle G; Eymard, Bruno B; Richard, Isabelle I

Publication Date: 2015-12-15

Variant appearance in text: TTN: Q35660*

PubMed Link: 26581302

Variant Present in the following documents:

• Main text

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