Screening for the APP codon 670/671 mutations in Alzheimer's diseaseHOULDEN, H; CRAWFORD, F; ROSSOR, M et al.Neuroscience letters. 1993, Vol 154, Num 1-2, pp 161-162, issn 0304-3940Article

PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative diseaseMATARIN, M. M; SINGLETON, A. B; HOULDEN, H et al.Neuroscience letters. 2006, Vol 407, Num 2, pp 162-165, issn 0304-3940, 4 p.Article

Genotypic and phenotypic heterogeneity in familial microcoriaBREMNER, F. D; HOULDEN, H; SMITH, S. E et al.British journal of ophthalmology. 2004, Vol 88, Num 4, pp 469-473, issn 0007-1161, 5 p.Article

Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelicHOULDEN, H; LINCOLN, S; FARRER, M et al.Neurology. 2003, Vol 61, Num 10, pp 1423-1426, issn 0028-3878, 4 p.Article

Apolipoprotein E alleles but neither apolipoprotein B nor apolipoprotein AI/CIII alleles are associated with late onset, familial Alzheimer's diseaseHOULDEN, H; CROOK, R; DUFF, K et al.Neuroscience letters. 1995, Vol 188, Num 3, pp 202-204, issn 0304-3940Article

Absence of linkage between chromosome 21 loci and familial amyotrophic lateral sclerosisKING, A; HOULDEN, H; HARDY, J et al.Journal of medical genetics. 1993, Vol 30, Num 4, issn 0022-2593, p. 318Conference Paper

Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathyHOULDEN, H; REILLY, M. M; SMITH, S et al.Eye (London. 1987). 2009, Vol 23, Num 4, pp 966-974, issn 0950-222X, 9 p.Article

THAP1 mutations (DYT6) are an additional cause of early-onset dystoniaHOULDEN, H; SCHNEIDER, Spa; PAUDEL, R et al.Neurology. 2010, Vol 74, Num 10, pp 846-850, issn 0028-3878, 5 p.Article

GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatmentMICHELL, A. W; LAURA, M; MURRAY, N. M. F et al.Journal of neurology, neurosurgery and psychiatry. 2009, Vol 80, Num 6, pp 699-700, issn 0022-3050, 2 p.Article

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2HOULDEN, H; LAURA, M; WAVRANT-DE VRIEZE, F et al.Neurology. 2008, Vol 71, Num 21, pp 1660-1668, issn 0028-3878, 9 p.Article

Association of an extended haplotype in the tau gene with progressive supranuclear palsyBAKER, M; LITVAN, I; HOULDEN, H et al.Human molecular genetics (Print). 1999, Vol 8, Num 4, pp 711-715, issn 0964-6906Article

Frequency of tau mutations in three series of non-Alzheimer's degenerative dementiaHOULDEN, H; BAKER, M; OWEN, F et al.Annals of neurology. 1999, Vol 46, Num 2, pp 243-248, issn 0364-5134Article

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutationsPOLKE, J. M; LAURA, M; DEVILE, C et al.Neurology. 2011, Vol 77, Num 2, pp 168-173, issn 0028-3878, 6 p.Article

GLUCOCEREBROSIDASE MUTATIONS IN 108 NEUROPATHOLOGICALLY CONFIRMED CASES OF MULTIPLE SYSTEM ATROPHYSEGARANE, B; LI, A; HOLTON, J et al.Neurology. 2009, Vol 72, Num 13, pp 1185-1186, issn 0028-3878, 2 p.Article

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotypeHOULDEN, H; BAKER, M; KHAN, M. N et al.Neurology. 2001, Vol 56, Num 12, pp 1702-1706, issn 0028-3878Article

Pantothenate kinase-associated neurodegeneration is not a synucleinopathyLI, A; PAUDEL, R; JOHNSON, R et al.Neuropathology and applied neurobiology (Print). 2013, Vol 39, Num 2, pp 121-131, issn 0305-1846, 11 p.Article

A Huntington's disease phenocopy characterized by pallido-nigro-luysian degeneration with brain iron accumulation and p62-positive glial inclusionsAHMED, Z; TABRIZI, S. J; LI, A et al.Neuropathology and applied neurobiology (Print). 2010, Vol 36, Num 6, pp 551-557, issn 0305-1846, 7 p.Article

Analysis of tau haplotypes in Pick's diseaseMORRIS, H. R; BAKER, M; BIGIO, E. H et al.Neurology. 2002, Vol 59, Num 3, pp 443-445, issn 0028-3878Article

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17HUTTON, M; LENDON, C. L; HACKETT, J et al.Nature (London). 1998, Vol 393, Num 6686, pp 702-705, issn 0028-0836Article

Complete analysis of the presenilin 1 gene in early onset Alzheimer's diseaseHUTTON, M; BUSFIELD, F; BAKER, M et al.Neuroreport (Oxford). 1996, Vol 7, Num 3, pp 801-805, issn 0959-4965Article

A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 genePEREZ-TUR, J; FROELICH, S; ROQUES, P et al.Neuroreport (Oxford). 1995, Vol 7, Num 1, pp 297-301, issn 0959-4965Article

Confirmation that familial clustering and age of onset in late onset Alzheimer's disease are determined at the apolipoprotein E locusHOULDEN, H; CROOK, R; HARDY, J et al.Neuroscience letters. 1994, Vol 174, Num 2, pp 222-224, issn 0304-3940Article

Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein geneCHARTIER-HARLIN, M.-C; CRAWFORD, F; MULLAN, M et al.Nature (London). 1991, Vol 353, Num 6347, pp 844-846, issn 0028-0836Article

Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansionKOUTSIS, G; KARADIMA, G; PANDRAUD, A et al.Journal of neurology. 2012, Vol 259, Num 9, pp 1874-1878, issn 0340-5354, 5 p.Article

Review: Genetics and neuropathology of primary pure dystoniaPAUDEL, R; HARDY, J; REVESZ, T et al.Neuropathology and applied neurobiology (Print). 2012, Vol 38, Num 6, pp 520-534, issn 0305-1846, 15 p.Article