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Henry Houlden

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Professor of Neurogenetics

United Kingdom

Research Interests

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Recent Grants

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Understanding the GBA1 risk factor in African Parkinson’s disease

Open Date: 2024-08-01

Close Date: 2026-01-31

Grant: Close

Understanding non-coding genomic variation in neurological disorders

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Articles (21)

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Collaborators (29)

Tammaryn Lashley

University College London

UNITED KINGDOM

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Anna Basu

Clinical Senior Lecturer/Hon Consultant

Newcastle University

UNITED KINGDOM

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Kallol Gupta

Associate Professor

Yale University

UNITED STATES

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Anthony Schapira

University College London

UNITED KINGDOM

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Sonja Scholz

National Institute of Neurological Disorders and Stroke

UNITED STATES

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Sara Aguti

Senior Research Fellow in RNA therapies

University College London

UNITED KINGDOM

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Camille Carroll

Clinical Professor

Newcastle University

UNITED KINGDOM

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Claire Shepherd

University of New South Wales

AUSTRALIA

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Reza Maroofian

UNITED KINGDOM

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Patrick May

Senior Researcher, Head of Genome Analysis

University of Luxembourg

LUXEMBOURG

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Raquel Real

University College London

UNITED KINGDOM

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stefania corti

Professor of Neurology

Università degli Studi di Roma Tor Vergata Facoltà di Medicina e Chirurgia

ITALY

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Sathish Ramakrishnan

Assistant Professor

Yale University

UNITED STATES

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Emma Veale

Senior Research Fellow

University of Kent

UNITED KINGDOM

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Céline Bonnet

FRANCE

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Nina Barisic

neuropediatrician consultant MD PhD full tenured professor

university of zagreb

CROATIA

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Dario Ronchi

Associate Professor

University of Milan

ITALY

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Nicholas Wood

University College London

UNITED KINGDOM

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Kajsa Brolin

Lund University

SWEDEN

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Andrew Robinson

The University of Manchester

UNITED KINGDOM

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Federico Roncaroli

The University of Manchester

UNITED KINGDOM

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Peter Bauer

Chief Medical & Genomic Officer

GERMANY

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Gabriel Torrealba-Acosta

Assistant Professor

Duke University

UNITED STATES

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Sylvia Boesch

Senior Physician, Associate Professor

Tirol-Kliniken

AUSTRIA

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Sergiu Groppa

Medical Director and Chair

Saarland University

GERMANY

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Zafar Iqbal

Oslo University Hospital

NORWAY

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Frédéric Pincet

Université PSL

FRANCE

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Harriet Dashnow

Assistant Professor

University of Colorado Anschutz Medical Campus

UNITED STATES

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Chatkaew Pongmala

University of Michigan

UNITED STATES

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Henry Houlden

Research Interests

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Recent Grants

Articles (21)

Pathology and Genetics in a Global Cohort of Parkinsonian Disorders.

PABPN1 pathogenic expansion in the UK Biobank: reframing genetic prevalence of oculopharyngeal muscular dystrophy

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Expanding the clinical and genetic spectrum of biallelic MYO18B pathogenic variants in congenital myopathy

Exploring MAPT-containing H1 and H2 haplotypes in Parkinson’s disease across diverse populations

Parkinson&apos;s disease genetics across diverse ancestries: an observational genetic study of causal and risk variants with translational implications

Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies

Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.

Turbocharging Synaptic Transmission: 12 SNAREpins are Required for Rapid Release of Reconstituted Synaptic Vesicles

Defining the underlying pathology of corticobasal syndrome using clinical features and biomarkers

Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders

Hereditary spastic paraplegia: a practical approach

Whole-exome sequencing reveals a novel frameshift and a recurrent nonsense SPG11 variant causing rare familial amyotrophic lateral sclerosis type 5 in two consanguineous Pakistani families.

PINK1‐Associated Juvenile‐Onset Parkinsonism: Marked Phenotypic Variability and Limited Genotype–Phenotype Correlation

&lt;i&gt;BHLHE22&lt;/i&gt; monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Hereditary neurodegenerative disorders with spastic-ataxic manifestations: genetic and clinical insights into previously reported variants.

Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar Ataxia.

CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

<scp>Non‐GAA</scp>Repeat Expansions in<scp><i>FGF14</i></scp>Are Likely Not Pathogenic—Reply to: “<i>Shaking Up Ataxia</i>:<scp><i>FGF14</i></scp>and<scp><i>RFC1</i></scp>Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

Collaborators (29)

Tammaryn Lashley

Anna Basu

Kallol Gupta

Anthony Schapira

Sonja Scholz

Sara Aguti

Camille Carroll

Claire Shepherd

Reza Maroofian

Patrick May

Raquel Real

stefania corti

Sathish Ramakrishnan

Emma Veale

Céline Bonnet

Nina Barisic

Dario Ronchi

Nicholas Wood

Kajsa Brolin

Andrew Robinson

Federico Roncaroli

Peter Bauer

Gabriel Torrealba-Acosta

Sylvia Boesch

Sergiu Groppa

Zafar Iqbal

Frédéric Pincet

Harriet Dashnow

Chatkaew Pongmala

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Parkinson's disease genetics across diverse ancestries: an observational genetic study of causal and risk variants with translational implications

<i>BHLHE22</i> monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.