M. Li

ORCID: 0000-0002-0473-5667
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About
Contact & Profiles
Research Areas
  • Amyotrophic Lateral Sclerosis Research
  • Vascular Procedures and Complications
  • Peripheral Artery Disease Management
  • Nerve injury and regeneration
  • Coronary Interventions and Diagnostics
  • Aortic aneurysm repair treatments
  • Aortic Disease and Treatment Approaches
  • Genetic Neurodegenerative Diseases
  • Skin and Cellular Biology Research
  • Signaling Pathways in Disease
  • Hemoglobinopathies and Related Disorders
  • Functional Brain Connectivity Studies
  • Transcranial Magnetic Stimulation Studies
  • Neurological diseases and metabolism
  • Muscle activation and electromyography studies
  • Mitochondrial Function and Pathology

Beijing Fengtai Hospital
2023

Nanchang University
2014

Nagoya University
1998-1999

Expanded glutamine repeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegenerative disorder. More recent studies have suggested that expanded ATXN2 are genetic risk factor for amyotrophic lateral sclerosis (ALS) via an RNA-dependent interaction with TDP-43. Given phenotypic diversity observed in SCA2 patients, we set out to determine polymorphic nature repeat length across spectrum disorders. In this study, genotyped 3919 disease patients and 4877...

10.1093/hmg/ddr227 article EN Human Molecular Genetics 2011-05-24
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