Results 181 to 190 of about 1,995 (205)

Immune-mediated necrotizing myopathy: clinical features and pathogenesis

Nature Reviews Rheumatology, 2020
Yves Allenbach, Olivier Benveniste, Werner Stenzel   +2 more
exaly  

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  

Cardiac impairment in GNE myopathy (P2.063)

Neurology, 2015
Luhe Mian, May Christine Malicdan, Satoru Noguchi, William Gahl, Marjan Huizing   +4 more
openaire   +1 more source

Sialylation-increasing therapies for GNE myopathy

Neuromuscular Disorders, 2016
M. Huizing, M. Malicdan, H. Khatami, N. Carrillo, W. Gahl   +4 more
openaire   +1 more source

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  

Disease Progression of GNE Myopathy (P2.046)

Neurology, 2015
Melanie Quintana, Joseph Shrader, Galen Joe, Mark Fitzgerald, William Gahl, John McKew, Scott Berry, Nuria Carrillo-Carrasco   +7 more
openaire   +1 more source

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