D
D.P. McHale
Researcher at St James's University Hospital
Publications - 5
Citations - 830
D.P. McHale is an academic researcher from St James's University Hospital. The author has contributed to research in topics: Microcephaly & ASPM. The author has an hindex of 5, co-authored 5 publications receiving 805 citations.
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Journal ArticleDOI
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.
A Curtis,C Fey,Christopher Morris,Laurence A. Bindoff,Paul G. Ince,Patrick F. Chinnery,Alan Coulthard,Margaret Jackson,Andrew P. Jackson,D.P. McHale,David C. Hay,William A. Barker,Alex F. Markham,David W. Bates,Ann Curtis,John Burn +15 more
TL;DR: A previously unknown, dominantly inherited, late-onset basal ganglia disease, variably presenting with extrapyramidal features similar to those of Huntington's disease (HD) or parkinsonism, was described in this paper.
Journal ArticleDOI
Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter
Andrew P. Jackson,D.P. McHale,David A. Campbell,Hussain Jafri,Yasmin Rashid,Jovaria Mannan,G. Karbani,Peter Corry,Malcolm I. Levene,Robert F. Mueller,Alexander F. Markham,Nicholas Lench,C. Geoffrey Woods +12 more
TL;DR: Using autozygosity mapping, a genetic locus (MCPH1) for primary microcephaly is identified, at chromosome 8p22-pter, in two consanguineous families of Pakistani origin, and the genetic heterogeneity of this condition is demonstrated.
Journal ArticleDOI
The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.
Emma Roberts,Andrew P. Jackson,Carradice Ac,Deeble Vj,Jovaria Mannan,Yasmin Rashid,Hussain Jafri,D.P. McHale,Alex F. Markham,Nicholas Lench,C.G. Woods +10 more
TL;DR: The genetic heterogeneity of this condition is demonstrated with the identification of a second primary microcephaly locus (MCPH2) on chromosome 19q13.1–13.2 in two multi-affected consanguineous families.
Journal ArticleDOI
A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25
D.P. McHale,S.J. Mitchell,Sarah Bundey,L M Moynihan,David A. Campbell,C.G. Woods,Nicholas Lench,Robert F. Mueller,AF Markham +8 more
TL;DR: It is shown that a proportion of autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25, and the identification of genes involved in the etiology of cerebral palsies may lead to improved management of this clinically intractable condition.
Journal ArticleDOI
Further evidence of genetic heterogeneity in hereditary hydronephrosis
TL;DR: It is reported that a family not showing linkage with the HLA region on chromosome six is reported, giving further evidence of genetic heterogeneity in this condition.