Neurology

Polymorphisms at 16p13 are associated with systemic lupus erythematosus in the Chinese population
Zheng Zhang, Yilin Cheng, Xueya Zhou, Yang Li, Jinping Gao, Jianwen Han, Cheng Quan, Sumin He, Yongmei Lv, Dayan Hu, Kunju Zhu, Liangdan Sun, Sen Yang, Xuejun Zhang

Journal of Medical Genetics Jan 2011, 48 (1) 69-72; DOI: 10.1136/jmg.2010.077859
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design
Francesco Danilo Tiziano, Rosa Lomastro, Anna Maria Pinto, Sonia Messina, Adele D'Amico, Stefania Fiori, Carla Angelozzi, Marika Pane, Eugenio Mercuri, Enrico Bertini, Giovanni Neri, Christina Brahe

Journal of Medical Genetics Dec 2010, 47 (12) 856-858; DOI: 10.1136/jmg.2010.080366
Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing
Karen Gaudon, Isabelle Pénisson-Besnier, Brigitte Chabrol, Françoise Bouhour, Laurence Demay, Asma Ben Ammar, Stéphanie Bauché, Christophe Vial, Guillaume Nicolas, Bruno Eymard, Daniel Hantaï, Pascale Richard

Journal of Medical Genetics Dec 2010, 47 (12) 795-796; DOI: 10.1136/jmg.2010.081034
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly
H Darvish, S Esmaeeli-Nieh, G B Monajemi, M Mohseni, S Ghasemi-Firouzabadi, S S Abedini, I Bahman, P Jamali, S Azimi, F Mojahedi, A Dehghan, Y Shafeghati, A Jankhah, M Falah, M J Soltani Banavandi, M Ghani-Kakhi, M Garshasbi, F Rakhshani, A Naghavi, A Tzschach, H Neitzel, H H Ropers, A W Kuss, F Behjati, K Kahrizi, H Najmabadi

Journal of Medical Genetics Dec 2010, 47 (12) 823-828; DOI: 10.1136/jmg.2009.076398
FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease
K Tsumagari, D Chen, J R Hackman, A D Bossler, M Ehrlich

Journal of Medical Genetics Nov 2010, 47 (11) 745-751; DOI: 10.1136/jmg.2009.076703
Replication of KIF21B as a susceptibility locus for multiple sclerosis
A Goris, S Boonen, M-B D'hooghe, B Dubois

Journal of Medical Genetics Nov 2010, 47 (11) 775-776; DOI: 10.1136/jmg.2009.075911
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes
M Nakamura, I Yabe, A Sudo, K Hosoki, H Yaguchi, S Saitoh, H Sasaki

Journal of Medical Genetics Oct 2010, 47 (10) 659-664; DOI: 10.1136/jmg.2009.072058
Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the disease
C Spits, S Seneca, P Hilven, I Liebaers, K Sermon

Journal of Medical Genetics Oct 2010, 47 (10) 700-703; DOI: 10.1136/jmg.2009.074211
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions
V-F Mautner, L Kluwe, R E Friedrich, A C Roehl, S Bammert, J Högel, H Spöri, D N Cooper, H Kehrer-Sawatzki

Journal of Medical Genetics Sep 2010, 47 (9) 623-630; DOI: 10.1136/jmg.2009.075937
The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor
S Bernal, L Alías, M J Barceló, E Also-Rallo, R Martínez-Hernández, J Gámez, E Guillén-Navarro, J Rosell, I Hernando, F J Rodríguez-Alvarez, S Borrego, J M Millán, C Hernández-Chico, M Baiget, P Fuentes-Prior, E F Tizzano

Journal of Medical Genetics Sep 2010, 47 (9) 640-642; DOI: 10.1136/jmg.2010.079004

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