Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

Andrew R.J. Curtis, Constanze Fey, Christopher M. Morris, +13

Nature Genetics

Neurodegenerative DiseasesMolecular NeuroscienceGenetic DisorderMedicineGenetics +9

Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS)

Janine Tomkins, Philip Usher, Janet Y. Slade, +4

Neuroreport

cDNA sequence of human β‐preprotachykinin, the common precursor to substance P and neurokinin A

Anthony J. Harmar, Andrea Armstrong, John C. Pascall, +6

FEBS Letters

Molecular PharmacologyHuman β‐PreprotachykininMolecular NeuroscienceCommon PrecursorBiochemistry +11

Comparative Evaluation of Three Continuous Speech Recognition Software Packages in the Generation of Medical Reports

Eric Devine, Stephan A. Gaehde, Ann Curtis

Journal of the American Medical Informatics Association

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.

L. V. B. Nicholson, Mark A. Johnson, Kate Bushby, +7

Journal of Medical Genetics

Disease ProgressionGenetic EpidemiologyDiagnosisPathologyDisease Gene Identification +18

Comparative genomic hybridization study of primary neuroblastoma tumors. United Kingdom Children's Cancer Study Group.

E Nacheva, A G McGuckin, Ann Curtis, +3

PubMed

GeneticsPathologyUnited Kingdom ChildrenGliomaTumor Biology +14

Neuroferritinopathy: A Window on the Role of Iron in Neurodegeneration

Douglas E. Crompton, Patrick F. Chinnery, Constanze Fey, +10

Blood Cells Molecules and Diseases

Neurodegenerative DiseasesNeurological DisorderNeuroprotectionNeurologyNeuroscience +3

Genetic heterogeneity in hereditary haemorrhagic telangiectasia.

Mary Porteous, Ann Curtis, Owen Williams, +3

Journal of Medical Genetics

GeneticsGenetic EpidemiologyVascular MalformationPathologyMolecular Genetics +14

Comparative genomic hybridization study of primary neuroblastoma tumors

Maria Łastowska, Elizabeth Nacheva, Angela McGuckin, +4

Genes Chromosomes and Cancer

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.

L. V. B. Nicholson, Mark A. Johnson, K. Bushby, +7

Journal of Medical Genetics

Rare DiseasesIndividual PatientsDmd PatientsMendelian DisorderGenetic Disorder +13