« Previous
Next »
Neuromuscular Disorders
Volume 18, Issue 7
, Pages 583-592
, July 2008
156th ENMC International Workshop: Desmin and protein aggregate myopathies, 9–11 November 2007, Naarden, The Netherlands
References
- . Desmin in myology, 24th European Neuromuscular Center (ENMC)-Sponsored International Workshop, 5–7 November 1993, Naarden, The Netherlands. Neuromuscul Disord. 1995;5:161–166
- . Familial desmin-related myopathies and cardiomyopathies – from myopathology to molecular and clinical genetics, 36th European Neuromuscular Centre (ENMC)-sponsored International Workshop, 20–22 October 1995, Naarden, The Netherlands. Neuromuscul Disord. 1996;6:383–388
- . Desmin – protein surplus myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop, 14–16 September 2001, Naarden, The Netherlands. Neuromuscul Disord. 2002;12:687–692
- . 121st ENMC International Workshop on Desmin and Protein Aggegate Myopathies, 7–9 November 2003, Naarden, The Netherlands. Neuromuscul Disord. 2004;14:767–773
- Une nouvelle affection musculaire familiale, définie par l’accumulation intra-sarco-plasmique d’un matériel granulo-filamentaire dense en microscopie électronique. Rev Neurol (Paris). 1978;134:411–425
- . Intermediate filaments as mechanical integrators of cellular space. Nature. 1980;283:249–256
- Storage of phosphorylated desmin in a familial myopathy. FEBS Lett. 1988;231:421–425
- A missense mutation in the alpha-B crystallin chaperone gene causes a desmin-related myopathy. Nat Genet. 1998;20:92–95
- Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet. 2001;69:1141–1145
- . Myofibrillar myopathy caused by novel dominant negative αB-crystallin mutations. Ann Neurol. 2003;54:804–810
- . Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain. 2004;127:439–451
- . Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol. 2005;57:269–276
- Differences in the distribution of synemin, paranemin, and plectin in skeletal muscles of wild-type and desmin knock-out mice. Histochem Cell Biol. 2000;114:39–47
- Human synemin gene generates splice variants encoding two distinct intermediate filament proteins. Eur J Biochem. 2001;268:6435–6449
- . Intermediate filament-like protein syncoilin in normal and myopathic striated muscle. Neuromuscul Disord. 2007;17:970–979
- The mouse synemin gene encodes three intermediate filament proteins generated by alternative exon usage and different open reading frames. Exp Cell Res. 2004;298:431–444
- Different expression of synemin isoforms in glia and neurons during nervous system development. Glia. 2006;54:204–213
- . Human alpha-synemin interacts directly with vinculin and metavinculin. Biochem J. 2008;409:657–667
- Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases. Acta Neuropathol (Berl). 2003;106:1–7
- . Syncoilin accumulation in two patients with desmin-related myopathy. Neuromuscul Disord. 2003;13:42–48
- . New insights into the molecular basis of desmoplakin- and desmin-related cardiomyopathies. J Cell Sci. 2006;119:4974–4985
- . Desmin filaments influence myofilament spacing and lateral compliance of slow skeletal muscle fibers. Biophys J. 2005;88:1156–1165
- . Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages. Proc Natl Acad Sci USA. 2005;102:15099–15104
- . Myotilinopathy: refining the clinical and myopathological phenotype. Brain. 2005;128:2315–2326
- Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. Hum Mol Genet. 2005;14:1251–1260
- . Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Brain. 2007;130:1485–1496
- . Mutations in myotilin cause myofibrillar myopathy. Neurology. 2004;62:1363–1371
- Myopathy-associated alphaB-crystallin mutants: abnormal phosphorylation, intracellular location, and interactions with other small heat shock proteins. J Biol Chem. 2007;282:34276–34287
- . The palladin/myotilin/myopalladin family of actin-associated scaffolds. Int Rev Cytol. 2005;246:31–58
- Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. Hum Mol Genet. 2003;12:189–203
- . Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice. Mol Cell Biol. 2007;27:244–252
- . Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. Hum Mol Genet. 2006;15:2348–2362
- The spectrum of pathology in central core disease. Neuromuscul Disord. 2002;12:930–938
- Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle. J Neurol Sci. 2003;206:71–78
- Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain. 2007;130:3250–3264
- A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet. 2005;77:297–304
- Pathological consequences of VCP mutations on human striated muscle. Brain. 2007;130:381–393
- Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann Neurol. 2005;57:457–461
- . Oxidative stress in desminopathies and myotilinopathies: a link between oxidative damage and abnormal protein aggregation. Brain Pathol. 2007;17:377–388
- . Desmin is oxidized and nitrated in affected muscles in myotilinopathies and desminopathies. J Neuropathol Exp Neurol. 2007;66:711–723
- . Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy. Am J Pathol. 2007;171:1312–1323
- Schoser BG. Autophagic changes in skeletal muscle – towards the enigma of rimmed and round vacuoles. Clin Neuropathol; in press.
PII: S0960-8966(08)00108-9
doi: 10.1016/j.nmd.2008.04.008
« Previous
Next »
Neuromuscular Disorders
Volume 18, Issue 7
, Pages 583-592
, July 2008
