Neuromuscular disease

Citations 1-10 of 188 total displayed.

Mutation reports
The unfolding clinical spectrum of POLG mutations

M J Blok, B J van den Bosch, E Jongen, A Hendrickx, C E de Die-Smulders, J E Hoogendijk, E Brusse, M de Visser, B T Poll-The, J Bierau, I F de Coo, H J Smeets
J. Med. Genet. 2009 46: 776 -785; published online before print as 10.1136/jmg.2009.067686 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1GA mutations in introns of the dystrophin gene

Y Habara, Y Takeshima, H Awano, Y Okizuka, Z Zhang, K Saiki, M Yagi, M Matsuo
J. Med. Genet. 2009 46: 542 -547; published online before print as 10.1136/jmg.2008.061259 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

E Pasmant, A Sabbagh, N Hanna, J Masliah-Planchon, E Jolly, P Goussard, P Ballerini, F Cartault, S Barbarot, J Landman-Parker, N Soufir, B Parfait, M Vidaud, P Wolkenstein, D Vidaud, R N F France
J. Med. Genet. 2009 46: 425 -430; published online before print as 10.1136/jmg.2008.065243 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

G Spurlock, E Bennett, N Chuzhanova, N Thomas, H-Ping Jim, L Side, S Davies, E Haan, B Kerr, S M Huson, M Upadhyaya
J. Med. Genet. 2009 46: 431 -437; published online before print as 10.1136/jmg.2008.065474 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum

C Crimella, A Arnoldi, F Crippa, M L Mostacciuolo, F Boaretto, M Sironi, M Grazia D’Angelo, S Manzoni, L Piccinini, A C Turconi, A Toscano, O Musumeci, S Benedetti, R Fazio, N Bresolin, A Daga, A Martinuzzi, M T Bassi
J. Med. Genet. 2009 46: 345 -351; published online before print as 10.1136/jmg.2008.063321 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Original articles
Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1)

T Tucker, C Schnabel, M Hartmann, R E Friedrich, I Frieling, H-P Kruse, V-F Mautner, J M Friedman
J. Med. Genet. 2009 46: 259 -265; published online before print as 10.1136/jmg.2008.061895 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
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
J. Med. Genet. 2009; 46: 203-208. [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Mutation reports
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

J D Stewart, S Tennant, H Powell, A Pyle, E L Blakely, L He, G Hudson, M Roberts, D du Plessis, D Gow, L D Mewasingh, M G Hanna, S Omer, A A Morris, R Roxburgh, J H Livingston, R McFarland, D M Turnbull, P F Chinnery, R W Taylor
J. Med. Genet. 2009; 46: 209-214. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas

T Tucker, J M Friedman, R E Friedrich, R Wenzel, C Fünsterer, V-F Mautner
J. Med. Genet. 2009 46: 81 -85; published online before print as 10.1136/jmg.2008.061051 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
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
J. Med. Genet. 2009 46: 112 -114; published online before print as 10.1136/jmg.2008.062463 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]