Publications:

Genetics of Muscle Stiffness, Muscle Elasticity and Explosive Strength.

Journal Of Human Kinetics

Maciejewska-Skrendo, Agnieszka A; Leźnicka, Katarzyna K; Leońska-Duniec, Agata A; Wilk, Michal M; Filip, Aleksandra A; Cięszczyk, Paweł P; Sawczuk, Marek M

Publication Date: 2020-08

Variant appearance in text: TTN: W35930R

PubMed Link: 33312283

Variant Present in the following documents:

• Main text
• hukin-74-143.pdf

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A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging.

Intractable & Rare Diseases Research

Algahtani, Hussein H; Shirah, Bader B; Algahtani, Raghad R; Al-Qahtani, Mohammad H MH; Abdulkareem, Angham Abdulrahman AA; Naseer, Muhammad Imran MI

Publication Date: 2019-05

Variant appearance in text: TTN: 107788T>C

PubMed Link: 31218166

Variant Present in the following documents:

• Main text

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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: 107788T>C

PubMed Link: 27854229

Variant Present in the following documents:

• Main text
• jnd-3-jnd160158.pdf

View BVdb publication page