M. Kammoun, V. Veksler, J. Piquereau, G. Bonne, M. Beuvin, I. Nelson, P. Pouletaut, M. Subramaniam, J. Hawse, S. Bensamoun

M. Kammoun, V. Veksler, J. Piquereau, G. Bonne, M. Beuvin, I. Nelson, P. Pouletaut, M. Subramaniam, J. Hawse, S. Bensamoun September 14, 2017

TGFβ inducible early gene-1 (TIEG1) is a member of KLF family that regulates gene expression in multiple cell and tissue types. Our first investigation in fast (EDL) and slow (soleus) twitch skeletal muscles provided new insights about the role of TIEG1 in the functional and structural properties.… Read More...

D. Bachasson, H. Reyngoudt, S. Turk, O. Benveniste, J. Hogrel, P. Carlier September 14, 2017

Availability of robust metrics to assess muscle alterations in neuromuscular disorders such as sporadic inclusion body myositis (sIBM) is critical to understand pathophysiology and evaluate therapeutic interventions. Quantitative nuclear magnetic resonance (NMR) imaging (3-point Dixon, multi-TE echo) was performed in thigh and leg muscles of 45 sIBM patients.… Read More...

N. Darin, C. Hedberg-Oldfors, A. Kroksmark, A. Moslemi, G. Kollberg, A. Oldfors September 14, 2017

We describe a large family with exercise intolerance and a homoplasmic m.3250T C mutation in the mitochondrially encoded tRNA leucine 1 (UUA/G) gene (MT-TL1). Thirteen family members experienced exercise intolerance with fatigue and weakness from early childhood. Inheritance was maternal with 100% penetrance.… Read More...

M. Rugiero, M. Bettini, M. Araoz, N. Genco, M. Chaves, S. Christiansen, A. Rassumoff September 14, 2017

Magnetic Resonance Imaging (MRI) has been emerged as a complementary tool in diagnosis and follow up of patients with myopathy. Inclusion Body Myositis (IBM) is the most common acquired myopathy in patients older than 50 years old. It presents with a characteristic pattern of muscle affectation.… Read More...

R. Bengoechea, W. Motley, S. Bird, S. Zuchner, S. Scherer, C. Weihl September 14, 2017

Dominantly inherited mutations in Bcl-2-associated athanogene 3 (BAG3) cause a severe myofibrillar myopathy, cardiomyopathy and axonal neuropathy. BAG3 is a heat shock protein 70 (HSP70) co-chaperone that links small heat shock proteins (sHSPs) such as HspB8 to HSP70. Only two missense mutations have been reported to cause skeletal muscle weakness and both reside in the same proline residue (P209L and P209Q).… Read More...

Kevin Weber September 14, 2017

Premise

Trigeminal neuralgia is a severe facial pain disorder that has been studied for decades. Classical trigeminal neuralgia (CTN) is either idiopathic or caused by neurovascular compression. The related painful trigeminal neuropathies are often secondary to other causes, such as multiple sclerosis or trauma.

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L. Maggi, M. Pasanisi, F. Mazzi, M. Verri, R. Frangiamore, M. Moscatelli, L. Chiapparini, R. Mantegazza, M. Bruzzone, D. Aquino September 14, 2017

To date, no effective treatment is available for Becker muscular dystrophy (BMD) and sporadic inclusion body myositis (sIBM). However, there is a number of promising therapeutic strategies, which are in preclinical development or have moved into clinical trials. Hence, sensitive and specific tools are required for assessment of possible benefit from new treatments.… Read More...

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