Henry Houlden

发表

Is anything lying behind parkin heterozygous mutations

Kailash P. Bhatia, Nicholas W. Wood, J. A. Hardy, 2012 .

Regional expression of alpha-synuclein in multiple system atrophy

Andrew J. Lees, Janice L. Holton, T Revesz, 2013 .

Exome sequencing in familial multiple system atrophy

Nw Wood, Janice L. Holton, Andrew J. Lees, 2012 .

ASSESSMENT OF FUNCTIONAL IMPAIRMENTS IN CELLULAR MODELS OF MUTANT HSPB1 INDUCED NEUROPATHIES

Mary M. Reilly, Linda Greensmith, Henry Houlden, 2011 .

The SNCA locus in dementia with Lewy bodies

Henry Houlden, A Sailer, M Kurzawa, 2010 .

THAP1 mutations and dystonia phenotypes: A metanalysis, genotype phenotype correlations and identification of novel mutations

Kailash P. Bhatia, Andrew J. Lees, Patricia Limousin, 2012 .

Creation of a Fibroblast Resource for Dementia Research

Martin N. Rossor, Colin J. Mahoney, Adriano Chiò, 2012 .

Genetics and neuropathology of focal dystonia

Janice L. Holton, Reema Paudel, T Revesz, 2012 .

Towards Enabling the Semantic Access of Phenotypic Information in Clinical Letters

Michael Simpson, Rafael Berlanga Llavori, Nicholas Wood, 2015, SWAT4LS.

Mutations in ADD3 Lead to Inherited Forms of Spastic Diplegia and Spastic Quadriplegia

Henry Houlden, Jeffrey Pollock, Michael C. Kruer, 2012 .

A novel DNA sequence variation in the first genetically confirmed allgrove syndrome in iran.

Henry Houlden, Kamran Bagheri Lankarani, Afshin Borhani Haghighi, 2006, Journal of clinical neuromuscular disease.

EXOME SEQUENCING AS A RAPID AND COST EFFICIENT DIAGNOSTIC METHOD IN NEUROGENETIC DISORDERS

Nicholas W. Wood, Gibbs, Sonja W. Scholz, 2011 .

Localisation of the gene for distal Hereditary Motor Neuronopathy-VII to chromosome 2

Nazneen Rahman, Nazneen Rahman, Henry Houlden, 2000 .

Clinical and genetic characterisation of families with triple a (Allgrove) syndrome

Nicholas W Wood, Henry Houlden, Julian Blake, 2002 .

ACCUMULATION OF TWO ATYPICAL SPHINGOLIPIDS IN HSAN I

Henry Houlden, Florian Eichler, Katharina Rentsch, 2009 .

THE CLINICAL AND GENETIC SPECTRUM OF HEMIPLEGIC MIGRAINE

Henry Houlden, James M. Polke, Alan Pittman, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Neurology and orthopaedics

Dishan Singh, Henry Houlden, H. Houlden, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

Ronald C. Petersen, Frank Owen, Stanley Fahn, 1998, Nature.

Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia.

Stephanie Schorge, Henry Houlden, John Hardy, 2014, JAMA neurology.

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.

Henry Houlden, Andrew B Singleton, D. Hernandez, 2013, American journal of human genetics.

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

David Sims, Andrea H. Németh, Yvonne Wallis, 2017, American journal of human genetics.

α-Synuclein mutations cluster around a putative protein loop☆

Christos Proukakis, Patrick A. Lewis, Henry Houlden, 2013, Neuroscience Letters.

Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research

Martin N. Rossor, Margaret Sutherland, Colin J. Mahoney, 2012, PloS one.

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Jana Vandrovcova, Henry Houlden, Zane Jaunmuktane, 2019, Nature Genetics.

A novel α-synuclein missense mutation in Parkinson disease

Christos Proukakis, Henry Houlden, A. Schapira, 2013, Neurology.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

Antonis Pantazis, Keith W. Muir, David J. Williams, 2020, Nature.

Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus

Patrick A. Lewis, Henry Houlden, Nicola J. Drummond, 2011, Nature communications.

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Mary M. Reilly, Francesco Muntoni, Henry Houlden, 2015 .

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

Pier D Lambiase, Henry Houlden, Josemir W Sander, 2015, Brain : a journal of neurology.