Results 221 to 230 of about 5,284 (245)

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  

[Nemaline myopathy].

Der Pathologe, 1992
K, Oemus, H J, Holzhausen, D, Stiller
openaire   +1 more source

Mutations in dynamin 2 cause dominant centronuclear myopathy

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

Nemaline myopathy.

Neuropatologia polska, 1974
B, Badurska, A, Fidziańska, H, Jedrzejowska   +2 more
openaire   +1 more source

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  

Nemaline Myopathies

2009
Stephan J. Froehlich, Carlo A. Lackerbauer, Guenter Rudolph, Jan Rémi, Soheyl Noachtar, Werner J. Heppt, Annette Cryer, Hans-Peter Zenner, Hans Helmut Niller, Fritz Schwarzmann, Hans Wolf, Thomas Frieling, Alexander K. C. Leung, Carina Wallgren-Pettersson, Hans H. Goebel, François Jouret, Olivier Devuyst, Massimo Attanasio, Friedhelm Hildebrandt, Vivekanand Jha, Kirpal S. Chugh, Anthony M. Marinaki, H. Anne Simmonds, Xiaoyan Zhou, Edward D. Frohlich, Vladimir Tesar, Hannu Jalanko, Vinzenz Oji, Heiko Traupe, Adrian Danek, Corrado Angelini, Dieter Kaufmann, Dieter Kaufmann, Michael Weller, Johannes Kornhuber, Angela Vincent, John Newsom-Davis, Sara Mole, Ruth Williams, Jonathan Baets, C. Oliver Hanemann, Peter Jonghe, Ian Holt, Thomas Klopstock, Massimo Zeviani, Klaus Ley, Emily Smith, Masaaki Shiohara, Alexander K. C. Leung, William Lane M. Robson, Eirini I. Brokalaki, Stephan Grabbe, Carmen Loquai, Donatus Nohr, Donatus Nohr, Jürgen Gallinat, Edward H. Schuchman, Robert J. Desnick, Christina Zeitz, Shuki Mizutani, Jordan S. Orange, Jeffrey P. Weiss, Jerry G. Blaivas, William Lane M. Robson, Alexander K. C. Leung, Lucia K. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Peter E. H. Schwarz, Jiang Li, Derek LeRoith, Shigeo Kure, Keiya Tada, Jochen Utikal, Alexei Gratchev, Sergij Goerdt, Marco Senzolo, Elena Piovesana, Lajos Okolicsanyi, Andrew K. Burroughs, Erik A. Sistermans, Jutta Engel, M. Dominik Fischer, Wolfgang Berger, Maria Grazia Tozzi, Vanna Micheli, Alexander K. C. Leung, William Lane M. Robson   +87 more
openaire   +1 more source

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