Results 101 to 110 of about 864,168 (128)

Recent insights in striated muscle laminopathies

Current Opinion in Neurology
Purpose of review To highlight recent insights in different aspects of striated muscle laminopathies (SMLs) related to LMNA mutations. Recent findings Clinical and genetic studies allow better patient management and diagnosis, with confirmation of ventricular tachyarrhythmias (VTA ...
Anne Bertrand, Gisèle Bonne
exaly   +3 more sources

Gene therapy for striated muscle laminopathy

2022
LMNA-related Congenital Muscular Dystrophy (L-CMD) is the most severe form of striated muscle laminopathies caused by mutations in LMNA. Our purpose is to development gene therapy for L-CMD to correct LMNA mutations at mRNA level and improve the function of affected organs.
Okubo, Mariko, Brull, Astrid, Beuvin, Maud, Mougenot, Nathalie, Paradis, Valérie, Bonne, Gisèle, Bertrand, Anne T.   +6 more
openaire   +3 more sources

P2.41 From Emery-Dreifuss muscular dystrophy to striated muscle laminopathies. A 12years retrospective

Neuromuscular Disorders, 2011
Gisèle Bonne, Dalil Hamroun, R Ben Yaou
exaly   +2 more sources

Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features

Cells, 2016
LMNA-related disorders are caused by mutations in the LMNA gene, which encodes for the nuclear envelope proteins, lamin A and C, via alternative splicing.
Lorenzo Maggi, Pia Bernasconi, Nicola Carboni   +2 more
exaly   +2 more sources

Challenges in gene therapy for striated muscle laminopathy

2023
Lamins A/C, encoded by LMNA, are components of the nuclear lamina underlying the inner nuclear envelope. LMNA mutations lead to a great phenotype variability, mainly affecting striated muscles, called laminopathies. At the most severe spectrum of striated muscle laminopathies, LMNA-related congenital muscular dystrophy (L-CMD) is characterized by ...
Bertrand, Anne, Okubo, Mariko, Brull, Astrid, Beuvin, Maud, Mougenot, Nathalie, Paradis, Valérie, Bonne, Gisèle   +6 more
openaire   +1 more source

Identification of potential genetic modifiers underlying phenotypic variability in a French family with striated muscle laminopathies

Neuromuscular Disorders, 2022
Benarroch, L., Bertrand, A., Beuvin, M., Nelson, I., Naouar, N., Simonet, F., Dina, C., Pionneau, C., Schott, Jean-Jacques, Yaou, R. Ben, Bonne, Gisèle   +10 more
openaire   +2 more sources

Recent insights in the pathophysiological mechanisms of striated muscle laminopathies

2023
Yaou, Rabah Ben, Benarroch, Louise, Leconte, Marine, Beuvin, Maud, Nelson, Isabelle, Chikhaoui, Cathy, Atalaia, Antonio, Wahbi, Karim, Bertrand, Anne T, Bonne, Gisèle   +9 more
openaire   +3 more sources

P.I.2 Laminopathies affecting the striated muscle

Neuromuscular Disorders, 2006
R. Ben Yaou, V. Decostre, L. Gueneau, S. Stora, L. Renou, K. Chikhaoui, L. Demay, P. Richard, G. Bonne   +8 more
openaire   +1 more source

Need for NAD+: Focus on Striated Muscle Laminopathies

Cells, 2020
Antoine Muchir
exaly  

Gene therapy for striated muscle laminopathies

2022
Okubo, Mariko, Brull, Astrid, Beuvin, Maud, Mougenot, Nathalie, Bonne, Gisèle, Bertrand, At   +5 more
openaire   +1 more source