Motor neurone disease

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
Yifat Zivony-Elboum, Wendy Westbroek, Nehama Kfir, David Savitzki, Yishay Shoval, Assnat Bloom, Raya Rod, Morad Khayat, Bella Gross, Walid Samri, Hector Cohen, Vadim Sonkin, Tatiana Freidman, Dan Geiger, Aviva Fattal-Valevski, Yair Anikster, Aoife M Waters, Robert Kleta, Tzipora C Falik-Zaccai

Journal of Medical Genetics Jul 2012, 49 (7) 462-472; DOI: 10.1136/jmedgenet-2012-100742
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
Stéphanie Millecamps, Séverine Boillée, Isabelle Le Ber, Danielle Seilhean, Elisa Teyssou, Marine Giraudeau, Carine Moigneu, Nadia Vandenberghe, Véronique Danel-Brunaud, Philippe Corcia, Pierre-François Pradat, Nadine Le Forestier, Lucette Lacomblez, Gaelle Bruneteau, William Camu, Alexis Brice, Cécile Cazeneuve, Eric LeGuern, Vincent Meininger, François Salachas

Journal of Medical Genetics Apr 2012, 49 (4) 258-263; DOI: 10.1136/jmedgenet-2011-100699
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
Congenital heart disease is a feature of severe infantile spinal muscular atrophy
S Rudnik-Schöneborn, R Heller, C Berg, C Betzler, T Grimm, T Eggermann, K Eggermann, R Wirth, B Wirth, K Zerres

Journal of Medical Genetics Oct 2008, 45 (10) 635-638; DOI: 10.1136/jmg.2008.057950
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
Kevin P Kenna, Russell L McLaughlin, Susan Byrne, Marwa Elamin, Mark Heverin, Elaine M Kenny, Paul Cormican, Derek W Morris, Colette G Donaghy, Daniel G Bradley, Orla Hardiman

Journal of Medical Genetics Nov 2013, 50 (11) 776-783; DOI: 10.1136/jmedgenet-2013-101795
Spinal muscular atrophy: untangling the knot?
Ivan Biros, Susan Forrest

Journal of Medical Genetics Jan 1999, 36 (1) 1-8; DOI: 10.1136/jmg.36.1.1
Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis
H Daoud, P N Valdmanis, E Kabashi, P Dion, N Dupré, W Camu, V Meininger, G A Rouleau

Journal of Medical Genetics Feb 2009, 46 (2) 112-114; DOI: 10.1136/jmg.2008.062463
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, Antonia Ratti, Cristina Cereda, Silvana Penco, Gianni Sorarù, Yari Carlomagno, Serena Ghezzi, Viviana Pensato, Claudia Colombrita, Stella Gagliardi, Lorena Cozzi, Valeria Orsetti, Michelangelo Mancuso, Gabriele Siciliano, Letizia Mazzini, Giacomo Pietro Comi, Cinzia Gellera, Mauro Ceroni, Sandra D'Alfonso, Vincenzo Silani

Journal of Medical Genetics Mar 2010, 47 (3) 190-194; DOI: 10.1136/jmg.2009.071027
A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21
R I Takata, C E Speck Martins, M R Passosbueno, K T Abe, A L Nishimura, M Dorvalina Da Silva, A Monteiro, M I Lima, F Kok, M Zatz

Journal of Medical Genetics Mar 2004, 41 (3) 224-229; DOI: 10.1136/jmg.2003.013201
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells
C Angelozzi, F Borgo, F D Tiziano, A Martella, G Neri, C Brahe

Journal of Medical Genetics Jan 2008, 45 (1) 29-31; DOI: 10.1136/jmg.2007.051177

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