Neurology

Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
Ruxandra Bachmann-Gagescu, Gisele E Ishak, Jennifer C Dempsey, Jonathan Adkins, Diana O'Day, Ian G Phelps, Meral Gunay-Aygun, Antonie D Kline, Krzysztof Szczaluba, Loreto Martorell, Abdulrahman Alswaid, Shatha Alrasheed, Shashidhar Pai, Louise Izatt, Anne Ronan, Melissa A Parisi, Heather Mefford, Ian Glass, Dan Doherty

Journal of Medical Genetics Feb 2012, 49 (2) 126-137; DOI: 10.1136/jmedgenet-2011-100552
Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
Andoni Echaniz-Laguna, Maïté Chassagne, Jennifer Ceresuela, Isabelle Rouvet, Sylvie Padet, Cécile Acquaviva, Serge Nataf, Stéphane Vinzio, Dominique Bozon, Bénédicte Mousson de Camaret

Journal of Medical Genetics Feb 2012, 49 (2) 146-150; DOI: 10.1136/jmedgenet-2011-100504
Association of HLA class I markers with multiple sclerosis in the Italian and UK population: evidence of two independent protective effects
Laura Bergamaschi, Maria Ban, Nadia Barizzone, Maurizio Leone, Daniela Ferrante, Maria Edvige Fasano, Franca R Guerini, Lucia Corrado, Paola Naldi, Ennia Dametto, Cristina Agliardi, Marco Salvetti, Rosella Mechelli, Daniela Galimberti, Elio Scarpini, Paola Cavalla, Valeria Bargiggia, Domenico Caputo, Susanna Cordera, Francesco Monaco, Patricia Momigliano-Richiardi, Sandra D'Alfonso

Journal of Medical Genetics Jul 2011, 48 (7) 485-492; DOI: 10.1136/jmg.2010.080721
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
Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C
Homa Tajsharghi, Trond P Leren, Saba Abdul-Hussein, Mar Tulinius, Leif Brunvand, Hilde M Dahl, Anders Oldfors

Journal of Medical Genetics Aug 2010, 47 (8) 575-577; DOI: 10.1136/jmg.2009.072710
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome
R A Maselli, J J Ng, J A Anderson, O Cagney, J Arredondo, C Williams, H B Wessel, H Abdel-Hamid, R L Wollmann

Journal of Medical Genetics Mar 2009, 46 (3) 203-208; DOI: 10.1136/jmg.2008.063693
Factors associated with HD CAG repeat instability in Huntington disease
V C Wheeler, F Persichetti, S M McNeil, J S Mysore, S S Mysore, M E MacDonald, R H Myers, J F Gusella, N S Wexler, The US–Venezuela Collaborative Research Group

Journal of Medical Genetics Nov 2007, 44 (11) 695-701; DOI: 10.1136/jmg.2007.050930
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
Peter J Taylor, Sarah Maroulis, Glenda L Mullan, Robyn L Pedersen, Aurora Baumli, George Elakis, Sara Piras, Corrina Walsh, Benito Prósper-Gutiérrez, Fernando De La Puente-Alonso, Christopher G Bell, David R Mowat, Heather M Johnston, Michael F Buckley

Journal of Medical Genetics Jun 2007, 44 (6) 368-372; DOI: 10.1136/jmg.2006.047464
Schimke immuno-osseous dysplasia: a clinicopathological correlation
J Marietta Clewing, Barbara C Antalfy, Thomas Lücke, Behzad Najafian, Katja M Marwedel, Akira Hori, Ralph M Powel, A F Safo Do, Lydia Najera, Karen SantaCruz, M John Hicks, Dawna L Armstrong, Corndins F Boerkoel

Journal of Medical Genetics Feb 2007, 44 (2) 122-130; DOI: 10.1136/jmg.2006.044313
Significant association of a M129V independent polymorphism in the 5′ UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study
C Vollmert, O Windl, W Xiang, A Rosenberger, I Zerr, H-E Wichmann, H Bickeböller, T Illig, H A Kretzschmar

Journal of Medical Genetics Oct 2006, 43 (10) e53; DOI: 10.1136/jmg.2006.040931

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