4.4 Article

Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy

Related references

Note: Only part of the references are listed.
Review Clinical Neurology

GNE myopathy: current update and future therapy

Ichizo Nishino et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2015)

Article Genetics & Heredity

Mutation Update for GNE Gene Variants Associated with GNE Myopathy

Frank V. Celeste et al.

HUMAN MUTATION (2014)

Article Endocrinology & Metabolism

Non-specific accumulation of glycosphingolipids in GNE myopathy

Katherine A. Patzel et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2014)

Article Clinical Neurology

GNE myopathy: A prospective natural history study of disease progression

Madoka Mori-Yoshimura et al.

NEUROMUSCULAR DISORDERS (2014)

Article Neurosciences

GNE myopathy in India

Atchayaram Nalini et al.

NEUROLOGY INDIA (2013)

Article Medicine, Research & Experimental

Diversity in cell surface sialic acid presentations: implications for biology and disease

Nissi M. Varki et al.

LABORATORY INVESTIGATION (2007)

Article Clinical Neurology

Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy

LS Ro et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2005)