Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Iris Eisenberg, Nili Avidan, Tamara Potikha et al. · Nature Genetics · 2001 · 528 citations

Life Sciences, Genetics, Molecular Biology +9

“Rimmed vacuole myopathy” sparing the quadriceps

Zohar Argov, R. Yarom · Journal of the Neurological Sciences · 1984 · 269 citations

Medicine, Orthopaedic Surgery, Orthopedic Surgery +8

Clinical Delineation and Localization to Chromosome 9p13.3–p12 of a Unique Dominant Disorder in Four Families: Hereditary Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia

Margaret J. Kovach, Brook Waggoner, Suzanne M. Leal et al. · Molecular Genetics and Metabolism · 2001 · 198 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutations in the Human UDP-N-Acetylglucosamine 2-Epimerase Gene Define the Disease Sialuria and the Allosteric Site of the Enzyme

Raili Seppälä, Veli-Pekka Lehto, William A. Gahl · The American Journal of Human Genetics · 1999 · 159 citations · Full text

Life Sciences, Biochemistry, Genetics +12

Overlapping PCR for Bidirectional PCR Amplification of Specific Alleles: A Rapid One-Tube Method for Simultaneously Differentiating Homozygotes and Heterozygotes

Qiang Liu, Erik C. Thorland, John A. Heit et al. · Genome Research · 1997 · 156 citations · Full text

Life Sciences, Genetics, Molecular Medicine +15