Fascicolo 3-2018

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Original article

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis

Chunxiang Fan^1*, Marius Kuhn^2*, Alexander Pepler MBiol³, James Groome⁴, Vern Winston⁴, Saskia Biskup³, Frank Lehmann-Horn^1** and Karin Jurkat-Rott¹

Prevalence of metabolic syndrome and non-alcoholic fatty liver disease in a cohort of Italian patients with spinal-bulbar muscular atrophy

Francesco Francini-Pesenti¹, Giorgia Querin², Cristina Martini¹, Sara Mareso¹ and David Sacerdoti¹

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey

Uluç Yi̇ş¹, Gülden Di̇ni̇z², Filiz Hazan³, Hülya Sevcan Dai̇magüler^{4 5}, Bahar Toklu Baysal⁶, Figen Baydan², Gülçin Akinci⁶, Aycan Ünalp⁶, Gül Aktan⁷, Erhan Bayram¹, Semra Hiz¹, Cem Paketçi̇¹, Derya Okur¹, Erdener Özer⁸, Ayça Ersen Danyeli̇⁸, Muzaffer Polat⁹, Gökhan Uyanik^{10 11} and Sebahattin Çirak^{4 5}

LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation

Saeed A. Bohlega¹, Sarah Alfawaz¹, Hussam Abou-Al-Shaar², Hindi N. Al-Hindi³, Hatem N. Murad¹, Mohamed S. Bohlega¹, Brian F. Meyer^{4 5} and Dorota Monies^{4 5}

Case report

Myotonic dystrophy type 1 and pulmonary embolism: successful thrombus resolution with dabigatran etexilate therapy

Emanuele Gallinoro¹, Andrea Antonio Papa¹, Anna Rago¹, Simona Sperlongano¹, Antonio Cassese¹, Nadia Della Cioppa², Maria Cristina Giada Magliocca³, Giovanni Cimmino¹ and Paolo Golino¹

Obituary

Professor Frank Lehmann-Horn (1948-2018)

Reinhardt Rüdel