List of works - Henry Houlden

A Commentary on ‘Four novel C20ORF54 mutations identified in Brown–Vialetto–Van Laere syndrome patients.’ ⬇️

scientific article published on July 12, 2012

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

scientific article published in 2021

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance

scientific journal article

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea

scientific article published on 2 February 2018

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy ⬇️

scientific article published on October 26, 2010

A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID

scientific article published on 17 August 2019

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

scientific article published on 08 September 2020

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

scientific article published on 12 July 2019

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

scientific article published on 01 May 2019

Author Correction: Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

scientific article published on 22 December 2020

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

scientific article published on 01 October 2020

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

scientific article (publication date: May 2014)

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

scientific article published on 22 June 2020

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

scientific article published on 29 March 2019

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54

scientific article

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

scientific article

Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson’s disease

scientific article published on 25 April 2019

Chromosome 13 dementia syndromes as models of neurodegeneration ⬇️

scientific article published on December 1, 2001

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

scientific article published on 04 March 2022

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

scientific article published in October 2021

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy

scientific journal article

DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder

scientific article published on 26 October 2020

Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes ⬇️

scientific article published on March 1, 2013

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

scientific article published in June 2007

Dystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes?

scientific article

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

scientific article

Exome sequencing in Brown-Vialetto-van Laere syndrome

scientific article

Expanding the mutational landscape and clinical phenotype of the <i>YIF1B</i> related brain disorder

scientific article published on 07 August 2021

Extending the clinical spectrum of pain channelopathies ⬇️

scientific article published on February 1, 2012

Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine ⬇️

scientific article published on July 31, 2012

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

scientific article published on 21 August 2015

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

scientific article

Further supporting evidence for REEP1 phenotypic and allelic heterogeneity

scientific article published on 15 November 2019

Genetic testing in dementia - utility and clinical strategies

scientific article published on 09 November 2020

Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

scientific article published on 16 November 2020

Genome-wide association study reveals genetic risk underlying Parkinson's disease

scientific article

Germline selection shapes human mitochondrial DNA diversity

scientific article published on 23 May 2019

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

scientific article

Haptoglobin genotype and outcome after aneurysmal subarachnoid haemorrhage

scientific article published on 14 January 2020

Haptoglobin genotype and outcome after spontaneous intracerebral haemorrhage

scientific article published on 10 January 2020

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series

scientific article

Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations

scientific article

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

scientific article published on 01 May 2022

How to diagnose difficult white matter disorders

scientific article published on 20 May 2020

Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage ⬇️

scientific article published on 06 April 2021

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

scientific article published on 15 September 2020

LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson's Disease Cohort from Kazakhstan

scientific article published on 19 February 2020

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

scientific article (publication date: September 2014)

Longer term stroke risk in intracerebral haemorrhage survivors

scientific article published on 17 June 2020

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

scientific article published on 12 August 2020

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

scientific article published on 07 May 2021

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

scientific journal article

Multiple system atrophy: genetic risks and alpha-synuclein mutations.

scientific article published on 30 November 2017

Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic

scientific article published on 17 September 2020

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

scientific article

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

scientific article

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

scientific article

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

scientific article published on 15 September 2020

New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy

scientific article

Parkinson's Disease in Central Asian and Transcaucasian Countries: A Review of Epidemiology, Genetics, Clinical Characteristics, and Access to Care

scientific article published on 08 August 2019

Parkinson’s families project: a UK-wide study of early onset and familial Parkinson’s disease

scientific article published on 17 October 2024

Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels

scientific article

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

scientific article published on 09 November 2020

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

article

RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy

scientific article published on 24 April 2020

Recent Advances in the Genetics of Cerebellar Ataxias ⬇️

scientific article published on June 1, 2012

Repeat expansion disorders

scientific article published on 30 September 2024

Spinocerebellar ataxia type 11

scientific article published on January 1, 2012

Stem cell transplant arrests decline in case of CSF1R leukoencephalopathy

scientific article published on 10 August 2019

TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT

scientific article

The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy

scientific article

The clinical and genetic heterogeneity of paroxysmal dyskinesias

scientific article

The genetics and neuropathology of Parkinson's disease

scientific article

The genetics of intellectual disability: advancing technology and gene editing

scientific article published on 16 January 2020

The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics ⬇️

scientific article published on 02 July 2012

The neuropathology, pathophysiology and genetics of multiple system atrophy ⬇️

scientific article published on February 1, 2012

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

scientific article published on 04 November 2021

List of works by Henry Houlden

A Commentary on ‘Four novel C20ORF54 mutations identified in Brown–Vialetto–Van Laere syndrome patients.’ ⬇️

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy ⬇️

A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

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

Author Correction: Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

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

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson’s disease

Chromosome 13 dementia syndromes as models of neurodegeneration ⬇️

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy

DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder

Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes ⬇️

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

Dystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes?

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

Exome sequencing in Brown-Vialetto-van Laere syndrome

Expanding the mutational landscape and clinical phenotype of the <i>YIF1B</i> related brain disorder

Extending the clinical spectrum of pain channelopathies ⬇️

Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine ⬇️

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

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Further supporting evidence for REEP1 phenotypic and allelic heterogeneity

Genetic testing in dementia - utility and clinical strategies

Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

Genome-wide association study reveals genetic risk underlying Parkinson's disease

Germline selection shapes human mitochondrial DNA diversity

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

Haptoglobin genotype and outcome after aneurysmal subarachnoid haemorrhage

Haptoglobin genotype and outcome after spontaneous intracerebral haemorrhage

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series

Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

How to diagnose difficult white matter disorders

Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage ⬇️

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson's Disease Cohort from Kazakhstan

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

Longer term stroke risk in intracerebral haemorrhage survivors

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

Multiple system atrophy: genetic risks and alpha-synuclein mutations.

Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy

Parkinson's Disease in Central Asian and Transcaucasian Countries: A Review of Epidemiology, Genetics, Clinical Characteristics, and Access to Care

Parkinson’s families project: a UK-wide study of early onset and familial Parkinson’s disease

Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy

Recent Advances in the Genetics of Cerebellar Ataxias ⬇️

Repeat expansion disorders

Spinocerebellar ataxia type 11

Stem cell transplant arrests decline in case of CSF1R leukoencephalopathy

TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT

The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy

The clinical and genetic heterogeneity of paroxysmal dyskinesias

The genetics and neuropathology of Parkinson's disease

The genetics of intellectual disability: advancing technology and gene editing

The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics ⬇️

The neuropathology, pathophysiology and genetics of multiple system atrophy ⬇️

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study