Results 221 to 230 of about 47,766 (237)

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Nature Genetics, 2019
Hiroyuki Ishiura, Jun Yoshimura, Yuta Suzuki   +2 more
exaly  

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

Nature Genetics, 2004
Margaret J Kovach, Michael P Whyte, Virginia E Kimonis   +2 more
exaly  

Mutations in dynamin 2 cause dominant centronuclear myopathy

Nature Genetics, 2005
Marc Bitoun, Jocelyn Laporte, Hanns Lochmüller   +2 more
exaly  

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

Nature Genetics, 2007
Anne-Sophie Nicot, Anne Toussaint, Erik Iwarsson   +2 more
exaly  

Critical illness polyneuropathy and myopathy: a major cause of muscle weakness and paralysis

Lancet Neurology, The, 2011
Nicola Latronico
exaly  

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

Nature Genetics, 2001
Hagit Hochner, Tsviya Olender, Mark Barash   +2 more
exaly  

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Nature Genetics, 2005
Jan Senderek, Nicole I Wolf, Kathryn N North   +2 more
exaly  

A Comprehensive Overview on Myositis-Specific Antibodies: New and Old Biomarkers in Idiopathic Inflammatory Myopathy

Clinical Reviews in Allergy and Immunology, 2015
Minoru Satoh, Angela Ceribelli, S John Calise   +2 more
exaly  

Autoantibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase in patients with statin-associated autoimmune myopathy

Arthritis and Rheumatism, 2011
Tae Chung, Lisa Christopher-Stine
exaly  

GATM gene variants and statin myopathy risk

Nature, 2014
Hector Chinoy, Munir Pirmohamed
exaly