Marc Gotkine

机构：Hebrew University of Jerusalem, Hadassah Medical Center · ORCID：0000-0003-2541-6232

发表论文 131 篇 · 总被引 5458 次 · h-index 31

代表论文

• TDP-43 loss induces cryptic polyadenylation in ALS/FTD (2025 · Nature Neuroscience · 被引 25)
• Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications (2025 · Journal of Neurology Neurosurgery & Psychiatry · 被引 18)
• Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis (2026 · Nature Genetics · 被引 11)
• National guidelines for diagnosis, treatment, and management of myasthenia gravis in Israel (2025 · Therapeutic Advances in Neurological Disorders · 被引 9)
• DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis (2024 · Science Advances · 被引 9)
• Autosomal recessive VWA1 -related disorder: comprehensive analysis of phenotypic variability and genetic mutations (2024 · Brain Communications · 被引 9)