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Nature Genetics, ISSN 1061-4036, 04/2018, Volume 50, Issue 4, pp. 581 - 590
Journal Article
NATURE GENETICS, ISSN 1061-4036, 08/2019, Volume 51, Issue 8, pp. 1222 - 1222
Journal Article
Neurology and Clinical Neuroscience, ISSN 2049-4173, 11/2014, Volume 2, Issue 6, pp. 193 - 200
  Background Niemann-Pick disease type C is a rare lysosomal storage disease in infants, adolescents and adults. Aim We investigated a family with two siblings... 
molecular genetics | metabolic disorders | Niemann–Pick disease type C | copper metabolism | Wilson's disease
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 07/2016, Volume 87, Issue 3, pp. 299 - 308
Journal Article
Journal Article
Oxford medical case reports, ISSN 2053-8855, 06/2019, Volume 2019, Issue 6, p. omz042
Acute ischemic stroke (AIS) caused by major vessel occlusion has potentially poor outcomes. Early successful recanalization after symptom onset is an important... 
Journal Article
Polyhedron, ISSN 0277-5387, 08/2015, Volume 96, pp. 44 - 50
Based on their electronic spectra, the structures of [Ni(moen) (DMF) ] and [Ni(thfn) (DMF) ] [moen = 2-methoxyethylamine; thfn = 2-tetrahydrofurfurylamine; DMF... 
Aminoether ligand | Gaussian curve fitting | Nickel(II) complex | Structure in solution | Conformational analysis | COBALT(II) | CRYSTALLOGRAPHY | METAL-COMPLEXES | CHEMISTRY, INORGANIC & NUCLEAR | Nickel | Investigations | Dimethylformamide
Journal Article
Journal of Nippon Medical School, ISSN 1345-4676, 2015, Volume 82, Issue 6, pp. 266 - 273
Diagnosing clinical progressive supranuclear palsy (PSP) is challenging. We hypothesize that there are more cases of pathological PSP than have been clinically... 
Journal Article
Journal Article
BMJ Case Reports, ISSN 1757-790X, 2011, Volume 2011, Issue mar31 1, pp. bcr0120113685 - bcr0120113685
Clinical phenotype of individuals with spinocerebellar ataxia 2 (SCA2) is characterised by cerebellar ataxia and cognitive impairment. Although... 
Spinocerebellar Ataxias - complications | Parkinsonian Disorders - pathology | Parkinsonian Disorders - complications | Humans | Adult | Male | Spinocerebellar Ataxias - pathology | Lewy Bodies - pathology | Studies | Pathology | Brain research | Neuropathology | Genes | Cognitive ability | Ataxia | Eye movements | Age | Index Medicus
Journal Article
Journal Article