Work

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy

Year: 2001

Type: article

Study design: Observational Study

Source: Neurogenetics

DOI: 10.1007/s100480000101

Authors: Alessandra Bolino, Lorne J. Lonie, Michael Zimmer, Cornelius F. Boerkoel, Hiroshi Takashima, Anthony P. Monaco, James R. Lupski

Institutions: Centre for Human Genetics, University of Oxford, Baylor College of Medicine

Language: English

Topic: Hereditary Neurological Disorders

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Muscular Dystrophy Association, Wellcome Trust, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Neurological Disorders and Stroke

Awards: G2875609050, G541618229, A MURINE MODEL OF SMITH-MAGENIS SYNDROME, CMT Peripheral Neuropathy: IV. Genes and Pathogenesis

OpenAlex ID: W2094525429

FWCI: 1.724

Cites: 13

Cited by: 36

Related to: 10