Peripheral nerve disease

Citations 1-10 of 81 total displayed.

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]  

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 ]  

Original articles
Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery

E G Allen, J Juncos, R Letz, M Rusin, D Hamilton, G Novak, L Shubeck, S W Tinker, S L Sherman
J. Med. Genet. 2008 45: 290 -297; published online before print as 10.1136/jmg.2007.054676 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Episodic ataxia and hemiplegia caused by the 8993TC mitochondrial DNA mutation

K Craig, H R Elliott, S M Keers, C Lambert, A Pyle, T D Graves, C Woodward, M G Sweeney, M B Davis, M G Hanna, P F Chinnery
J. Med. Genet. 2007; 44: 797-799. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening

S Sharif, A Moran, S M Huson, R Iddenden, A Shenton, E Howard, D G R Evans
J. Med. Genet. 2007 44: 481 -484; published online before print as 10.1136/jmg.2007.049346 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification

D Gareth R Evans, R T Ramsden, A Shenton, C Gokhale, N L Bowers, S M Huson, G Pichert, A Wallace
J. Med. Genet. 2007 44: 424 -428; published online before print as 10.1136/jmg.2006.047753 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1

J A McCaughan, S M Holloway, R Davidson, W W K Lam
J. Med. Genet. 2007 44: 463 -466; published online before print as 10.1136/jmg.2006.048140 [Abstract] [Full text] [PDF] [Request Permissions]