Peripheral nerve disease

Citations 11-20 of 81 total displayed.

Letters to JMG
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

Christel Depienne, Estelle Fedirko, Sylvie Forlani, Cécile Cazeneuve, Pascale Ribaï, Imed Feki, Chantal Tallaksen, Karine Nguyen, Bruno Stankoff, Merle Ruberg, Giovanni Stevanin, Alexandra Durr, Alexis Brice
J. Med. Genet. 2007 44: 281 -284; published online before print as 10.1136/jmg.2006.046425 [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1

M Lammert, J M Friedman, H J Roth, R E Friedrich, L Kluwe, D Atkins, T Schooler, V-F Mautner
J. Med. Genet. 2006 43: 810 -813; published online before print as 10.1136/jmg.2006.041095 [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23–27.3

Q J Wang, Q Z Li, S Q Rao, K Lee, X S Huang, W Y Yang, S Q Zhai, W W Guo, Y F Guo, N Yu, Y L Zhao, H Yuan, J Guan, S M Leal, D Y Han, Y Shen
J. Med. Genet. 2006; 43: e33. [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature

K A Mensink, R P Ketterling, H C Flynn, R A Knudson, N M Lindor, B A Heese, R J Spinner, D Babovic-Vuksanovic
J. Med. Genet. 2006; 43: e08. [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

R Gooding, J Colomer, R King, D Angelicheva, L Marns, Y Parman, D Chandler, J Bertranpetit, L Kalaydjieva
J. Med. Genet. 2005; 42: e69. [Abstract] [Full text] [PDF] [Request Permissions]  

Hypothesis
Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms

D G R Evans, E R Maher, M E Baser
J. Med. Genet. 2005; 42: 630-632. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

R Claramunt, L Pedrola, T Sevilla, A López de Munain, J Berciano, A Cuesta, B Sánchez-Navarro, J M Millán, G M Saifi, J R Lupski, J J Vílchez, C Espinós, F Palau
J. Med. Genet. 2005; 42: 358-365. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

A De Sandre-Giovannoli, V Delague, T Hamadouche, M Chaouch, M Krahn, I Boccaccio, T Maisonobe, E Chouery, R Jabbour, S Atweh, D Grid, A Mégarbané, N Lévy
J. Med. Genet. 2005; 42: 260-265. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?

S Jacquemont, A Orrico, L Galli, P K Sahota, J A Brunberg, C Anichini, M Leehey, S Schaeffer, R J Hagerman, P J Hagerman, F Tassone
J. Med. Genet. 2005; 42: e14. [Extract] [Full text] [PDF] [Request Permissions]  

Original articles
Multiple meningiomas: differential involvement of the NF2 gene in children and adults

D G R Evans, C Watson, A King, A J Wallace, M E Baser
J. Med. Genet. 2005; 42: 45-48. [Abstract] [Full text] [PDF] [Request Permissions]