Louise Benarroch

机构：Inserm, Sorbonne Université, Institut de Myologie · ORCID：0000-0003-2805-9170

发表论文 33 篇 · 总被引 631 次 · h-index 12

代表论文

• The 2020 version of the gene table of neuromuscular disorders (nuclear genome) (2019 · Neuromuscular Disorders · 被引 71)
• The 2021 version of the gene table of neuromuscular disorders (nuclear genome) (2020 · Neuromuscular Disorders · 被引 60)
• Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD) (2019 · Genetics in Medicine · 被引 56)
• The 2023 version of the gene table of neuromuscular disorders (nuclear genome) (2022 · Neuromuscular Disorders · 被引 49)
• Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm (2020 · Genetics in Medicine · 被引 49)
• Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy (2020 · Cells · 被引 47)