Neurology

Molecular alterations in mitochondrial DNA of hepatocellular carcinomas: is there a correlation with clinicopathological profile?
L-J C Wong, D-J Tan, R-K Bai, K-T Yeh, J Chang

Journal of Medical Genetics May 2004, 41 (5) e65; DOI: 10.1136/jmg.2003.013532
Novel sarcoglycan gene mutations in a large cohort of Italian patients
C Boito, M Fanin, G Siciliano, C Angelini, E Pegoraro

Journal of Medical Genetics May 2003, 40 (5) e67; DOI: 10.1136/jmg.40.5.e67
Neuroferritinopathy in a French family with late onset dominant dystonia
P F Chinnery, A R J Curtis, C Fey, A Coulthard, D Crompton, A Curtis, A Lombés, J Burn

Journal of Medical Genetics May 2003, 40 (5) e69; DOI: 10.1136/jmg.40.5.e69
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

Journal of Medical Genetics Dec 2005, 42 (12) e69; DOI: 10.1136/jmg.2005.034132
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis
P S Roberts, S Dabora, E A Thiele, D N Franz, S Jozwiak, D J Kwiatkowski

Journal of Medical Genetics May 2004, 41 (5) e69; DOI: 10.1136/jmg.2003.014126
The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene
H Jacquet, J Berthelot, C Bonnemains, G Simard, P Saugier-Veber, G Raux, D Campion, D Bonneau, T Frebourg

Journal of Medical Genetics Jan 2003, 40 (1) e7; DOI: 10.1136/jmg.40.1.e7
No evidence of an association between the T16189C mtDNA variant and late onset dementia
A M Gibson, J A Edwardson, D M Turnbull, I G McKeith, C M Morris, P F Chinnery

Journal of Medical Genetics Jan 2004, 41 (1) e7; DOI: 10.1136/jmg.2003.010983
Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia
R Giorda, A Cerritello, M C Bonaglia, S Bova, G Lanzi, E Repetti, S Giglio, C Baschirotto, T Pramparo, L Avolio, R Bragheri, P Maraschio, O Zuffardi

Journal of Medical Genetics Jun 2004, 41 (6) e71; DOI: 10.1136/jmg.2003.012260
Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients
A Cebrián, S Ruiz-Llorente, A Cascón, M Pollán, J J Díez, A Picó, D Tellería, J Benítez, M Robledo

Journal of Medical Genetics May 2003, 40 (5) e72; DOI: 10.1136/jmg.40.5.e72
A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome
M Mancuso, C Vives-Bauza, M Filosto, R Marti, A Solano, J Montoya, J Gamez, S DiMauro, A L Andreu

Journal of Medical Genetics Jun 2004, 41 (6) e73; DOI: 10.1136/jmg.2003.012278

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