Neurology

Coffin-Lowry phenotype in a patient with a complex chromosome rearrangement
N Concannon, A-M Hegarty, R L Stallings, W Reardon

Journal of Medical Genetics Aug 2002, 39 (8) e41; DOI: 10.1136/jmg.39.8.e41
Eight years' experience of direct molecular testing for myotonic dystrophy in Wales
Siv Fokstuen, Jenny Myring, Linda Meredith, David Ravine, Peter S Harper

Journal of Medical Genetics Dec 2001, 38 (12) e42; DOI: 10.1136/jmg.38.12.e42
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome
F Tassone, R J Hagerman, D Garcia-Arocena, E W Khandjian, C M Greco, P J Hagerman

Journal of Medical Genetics Apr 2004, 41 (4) e43; DOI: 10.1136/jmg.2003.012518
A clinical assessment of neurofibromatosis type 1 (NF1) and segmental NF in northern Finland
M POYHONEN

Journal of Medical Genetics Dec 2000, 37 (12) e43; DOI: 10.1136/jmg.37.12.e43
Detection of a large TBX5 deletion in a family with Holt-Oram syndrome
Seyed M Akrami, Robin M Winter, J David Brook, John A L Armour

Journal of Medical Genetics Dec 2001, 38 (12) e44; DOI: 10.1136/jmg.38.12.e44
Multifocal glomus tumours of the fingers in two patients with neurofibromatosis type 1
L De Smet, R Sciot, E Legius

Journal of Medical Genetics Aug 2002, 39 (8) e45; DOI: 10.1136/jmg.39.8.e45
Recurrence risks in undiagnosed mental retardation
GILLIAN TURNER, MICHAEL PARTINGTON

Journal of Medical Genetics Dec 2000, 37 (12) e45; DOI: 10.1136/jmg.37.12.e45
A novel mutation in the mitochondrial tRNA^Ser(AGY) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency
L-J C Wong, D Yim, R-K Bai, H Kwon, M M Vacek, J Zane, C L Hoppel, D S Kerr

Journal of Medical Genetics Sep 2006, 43 (9) e46; DOI: 10.1136/jmg.2005.040626
FRG1P is localised in the nucleolus, Cajal bodies, and speckles
S van Koningsbruggen, R W Dirks, A M Mommaas, J J Onderwater, G Deidda, G W Padberg, R R Frants, S M van der Maarel

Journal of Medical Genetics Apr 2004, 41 (4) e46; DOI: 10.1136/jmg.2003.012781
Spastin gene mutation in Japanese with hereditary spastic paraplegia
I Yabe, H Sasaki, K Tashiro, T Matsuura, T Takegami, T Satoh

Journal of Medical Genetics Aug 2002, 39 (8) e46; DOI: 10.1136/jmg.39.8.e46

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