Articles
- Open AccessNovel HSPB1 mutation causes both motor neuronopathy and distal myopathyD.J. Lewis-Smith, J. Duff, A. Pyle, H. Griffin, T. Polvikoski, D. Birchall, R. Horvath, P.F. Chinnery
- Open AccessHeterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiencyDavid J. Amor, Ashley P.L. Marsh, Elsdon Storey, Rick Tankard, Greta Gillies, Martin B. Delatycki, Kate Pope, Catherine Bromhead, Richard J. Leventer, Melanie Bahlo, Paul J. Lockhart
- Open AccessPeripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletionsDiana Lehmann, Malte E. Kornhuber, Carolina Clajus, Charlotte L. Alston, Andreas Wienke, Marcus Deschauer, Robert W. Taylor, Stephan Zierz
- Open AccessMuscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)S.T. Oestergaard, T. Stojkovic, J.R. Dahlqvist, C. Bouchet-Seraphin, J. Nectoux, F. Leturcq, M. Cossée, G. Solé, C. Thomsen, T.O. Krag, J. Vissing
- Open AccessSORL1 mutations in early- and late-onset Alzheimer diseaseMichael L. Cuccaro, Regina M. Carney, Yalun Zhang, Christopher Bohm, Brian W. Kunkle, Badri N. Vardarajan, Patrice L. Whitehead, Holly N. Cukier, Richard Mayeux, Peter St. George-Hyslop, Margaret A. Pericak-Vance
- Open AccessGermline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsyRikke S. Møller, Sarah Weckhuysen, Mathilde Chipaux, Elise Marsan, Valerie Taly, E. Martina Bebin, Susan M. Hiatt, Jeremy W. Prokop, Kevin M. Bowling, Davide Mei, Valerio Conti, Pierre de la Grange, Sarah Ferrand-Sorbets, Georg Dorfmüller, Virginie Lambrecq, Line H.G. Larsen, Eric Leguern, Renzo Guerrini, Guido Rubboli, Gregory M. Cooper, Stéphanie Baulac
- Open AccessDe novo FGF12 mutation in 2 patients with neonatal-onset epilepsyIlaria Guella, Linda Huh, Marna B. McKenzie, Eric B. Toyota, E. Martina Bebin, Michelle L. Thompson, Gregory M. Cooper, Daniel M. Evans, Sarah E. Buerki, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Mary B. Connolly, Matthew J. Farrer, Michelle Demos
Clinical/Scientific Notes
- Open AccessFHF1 (FGF12) epileptic encephalopathySameer Al-Mehmadi, Miranda Splitt, For DDD Study group*, Venkateswaran Ramesh, Suzanne DeBrosse, Kimberly Dessoffy, Fan Xia, Yaping Yang, Jill A. Rosenfeld, Patrick Cossette, Jacques L. Michaud, Fadi F. Hamdan, Philippe M. Campeau, Berge A. Minassian, For CENet Study group‡
- Open AccessEpidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutationValeria Carolina Alvarez, Sini Tellervo Penttilä, Valeria Luján Salutto, Bjarne Udd, Claudio Gabriel Mazia
- Open AccessCopy number analysis reveals a novel multiexon deletion of the COLQ gene in congenital myastheniaWei Wang, Yanhong Wu, Chen Wang, Jinsong Jiao, Christopher J. Klein
- Open AccessPhenotypic convergence of Menkes and Wilson diseaseBoglarka Bansagi, David Lewis-Smith, Endre Pal, Jennifer Duff, Helen Griffin, Angela Pyle, Juliane S. Müller, Gabor Rudas, Zsuzsanna Aranyi, Hanns Lochmüller, Patrick F. Chinnery, Rita Horvath
- Open AccessMitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimicAnne-Katrin Pröbstel, André Schaller, Johanna Lieb, Juergen Hench, Stephan Frank, Peter Fuhr, Ludwig Kappos, Michael Sinnreich
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