Use of animal models to understand titin physiology and pathology
M Marcello, V Cetrangolo… - Journal of Cellular and …, 2022 - Wiley Online Library
In recent years, increasing attention has been paid to titin (TTN) and its mutations.
Heterozygous TTN truncating variants (TTNtv) increase the risk of a cardiomyopathy. At the …
Heterozygous TTN truncating variants (TTNtv) increase the risk of a cardiomyopathy. At the …
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families
M Aldosary, M Alsagob, H AlQudairy… - Cells, 2022 - mdpi.com
The genetic architecture of mitochondrial disease continues to expand and currently
exceeds more than 350 disease-causing genes. Bi-allelic variants in RTN4IP1, also known …
exceeds more than 350 disease-causing genes. Bi-allelic variants in RTN4IP1, also known …
The Meryon Lecture at the 24th annual meeting of the Meryon Society, St. Anne's College, Oxford, UK, 15th July 2022: Neuromuscular diseases in the Arab population
MA Salih - Neuromuscular Disorders, 2023 - nmd-journal.com
Neuromuscular diseases (NMDs) are a heterogeneous group of neurological disorders
resulting from damage or dysfunction of the lower motor neurons, the neuromuscular …
resulting from damage or dysfunction of the lower motor neurons, the neuromuscular …
Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene
A Perna, L Bosco, F Fattori, E Torchia, A Modoni… - Neuromuscular …, 2024 - Elsevier
This report describes a novel TTN-related phenotype in two brothers, both affected by a
childhood onset, very slowly progressive myopathy with cores, associated with dilated …
childhood onset, very slowly progressive myopathy with cores, associated with dilated …