Johanna A. Reed

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Christian Windpassinger, Michaela Auer‐Grumbach, Joy Irobi et al. · Nature Genetics · 2004 · 374 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia

Andrew H. Crosby, Heema Patel, Barry A. Chioza et al. · The American Journal of Human Genetics · 2010 · 85 citations · Full text

Mitochondrial Biogenesis, Mitochondrial Function, Genetics +3

Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel

Louise Ocaka, Chao Zhao, Johanna A. Reed et al. · Journal of Medical Genetics · 2007 · 77 citations

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia

Johanna A. Reed, Phillip A. Wilkinson, Heema Patel et al. · Neurogenetics · 2005 · 55 citations

Genetic Disorder, Medicine, Genetics +4