List of works by Paul J. Lockhart

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9

scientific article published on 07 February 2017

ADGRV1 is implicated in myoclonic epilepsy

scientific article published on 20 December 2017

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

scientific article published on 22 April 2016

ARID1B-mediated disorders: Mutations and possible mechanisms.

scientific article

ASK1 is a novel molecular target for preventing aminoglycoside-induced hair cell death

scientific article published on 26 April 2022

Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats

scientific article published on January 2002

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

scientific article published on 07 April 2015

Analysis of PArkin Co-Regulated Gene in a Taiwanese-ethnic Chinese cohort with early-onset Parkinson's disease.

scientific article published on 3 February 2009

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 21 October 2020

Biochemical characterization of torsinB.

scientific article published on August 2004

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

scientific article published on 20 June 2019

CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63

scientific article published on 08 August 2018

Cell and gene therapy for Friedreich ataxia: progress to date

scientific article published on 19 June 2014

Cerebral hypomyelination associated with biallelic variants of FIG4

scientific article published on 28 February 2019

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

scientific article published on 21 January 2021

Clinical and Neuropathological Features Associated With Loss of RAB39B

scientific article published on 17 January 2020

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

scientific article published on 01 September 2020

Cloning, mapping and expression analysis of the sheep Wilson disease gene homologue

scientific article published in April 2000

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

scientific article published on 16 July 2015

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia

scientific article published on 24 December 2015

Controversy on chloroplast origins

scientific article published on April 20, 1992

Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases.

scientific article published on November 1998

Correction of the copper transport defect of Menkes patient fibroblasts by expression of two forms of the sheep Wilson ATPase

scientific article published on November 2002

Correction to: ASK1 is a novel molecular target for preventing aminoglycoside‑induced hair cell death

scientific article published on 10 May 2022

DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans.

scientific article published in January 2018

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

scientific article

DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons.

scientific article published on 23 February 2018

DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function

scientific article published in March 2004

De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features

scientific article published on 27 July 2010

Degeneration in different parkinsonian syndromes relates to astrocyte type and astrocyte protein expression

scientific article published in October 2009

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse

scientific article published on 27 January 2010

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

article by Rick M Tankard et al published 6 December 2018 in American Journal of Human Genetics

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.

scientific article

Eukaryotic Expression Vectors That Replicate to Low Copy Number in Bacteria: Transient Expression of the Menkes Protein

scientific article published in May 1998

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

scientific article

Expression of the Menkes gene homologue in mouse tissues lack of effect of copper on the mRNA levels

article

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

scientific article published on 18 August 2015

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

scientific article published on 12 March 2015

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update

scientific article published on 22 March 2019

Functional analysis and intracellular localization of the human menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1).

scientific article published on August 1998

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

scientific article published on 01 August 2018

Functional analysis of the sheep Wilson disease protein (sATP7B) in CHO cells

scientific article

Functional association of the parkin gene promoter with idiopathic Parkinson's disease

scientific article published on October 2002

Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line.

scientific article published on 14 May 2018

Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease.

scientific article published on 21 February 2018

Generation of iPSC lines from peripheral blood mononuclear cells from 5 healthy adults

scientific article published on 27 December 2018

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder

scientific article published on 01 August 2019

Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia

scientific article published on 01 November 2019

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

scientific article published on 17 September 2019

Genetic characterisation identifies bottom-of-sulcus dysplasia as an mTORopathy

scientific article published on 26 August 2020

Genotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism.

scientific article

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

scientific article published on 26 February 2016

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia

scientific article published on 03 January 2014

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

scientific article published on 15 April 2015

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.

scientific article published on 18 October 2016

How molecules evolve in eubacteria

scientific article published on 01 May 2000

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

scientific article

Identification and characterization of the human parkin gene promoter

scientific article published on September 2001

Identification and validation of control cell lines for accurate parkin dosage analysis

scientific article published on 5 September 2008

Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy

scientific article published on 01 August 2014

Identification of a novel gene linked to parkin via a bi-directional promoter

scientific article

Identification of the human ubiquitin specific protease 31 (USP31) gene: structure, sequence and expression analysis

scientific article

Implementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schools.

scientific article published on 23 November 2009

IsProchlorothrix hollandica the best choice as a prokaryotic model for higher plant Chla/b photosynthesis?

scientific article published on 01 July 1993

Isolation of a partial candidate gene for Menkes disease by positional cloning

scientific article

It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG).

scientific article

Lack of evidence for association of a parkin promoter polymorphism with early-onset Parkinson's disease in a Chinese population

article

Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism

article

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Long range regulation of human FXN gene expression

scientific article

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

scientific article

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

scientific article published on 19 June 2017

Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair

scientific article published on 27 October 2016

Molecular analysis of the PArkin co-regulated gene and association with male infertility.

scientific article published on 6 March 2009

Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease

scientific journal article

Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body disease

scientific article published in January 2004

Mutant torsinA interacts with tyrosine hydroxylase in cultured cells.

scientific article

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

scientific article

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

scientific article

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

scientific article

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

scientific article published on 9 October 2013

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

scientific article

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.

scientific article published on 7 November 2017

Oligomeric alpha-synuclein inhibits tubulin polymerization

scientific article published on 12 March 2007

Organelle genes--do they jump or are they pushed?

scientific article published on 01 February 2000

Parkin Co-Regulated Gene (PACRG) is regulated by the ubiquitin-proteasomal system and is present in the pathological features of Parkinsonian diseases

scientific article

Parkin co-regulated gene is involved in aggresome formation and autophagy in response to proteasomal impairment

scientific article

Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons

scientific article

Pathogenic Variants in GPC4 Cause Keipert Syndrome

scientific article published on 11 April 2019

Phylogenetic analysis of plastid origins based on secA sequences

scientific article published in October 1998

Plastid origins.

scientific article

Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.

scientific article published in January 2007

Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort

scientific article published on 20 May 2020

Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).

scientific article

Quantitative proteomic analysis of mitochondrial proteins: relevance to Lewy body formation and Parkinson's disease

scientific article published on 11 November 2004

RING finger 1 mutations in Parkin produce altered localization of the protein

scientific article published on 30 September 2003

Rasmussen encephalitis tissue transfer program

scientific article published in June 2016

Recent advances in the detection of repeat expansions with short-read next-generation sequencing.

scientific article

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

scientific article published on 14 September 2011

Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes

scientific article published in September 2001

Refining analyses of copy number variation identifies specific genes associated with developmental delay

scientific article

Regional and cellular localisation of Parkin co-regulated gene in developing and adult mouse brain.

scientific article published on 30 January 2008

Relationships in the alpine Ranunculus haastii (Ranunculaceae) complex and recognition of R. piliferus and R. acraeus from southern New Zealand

article published in January 2006

SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings

scientific article

SCA2 may present as levodopa-responsive parkinsonism

scientific article

Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

scientific article published on 17 June 2019

Sequence of Prochloron didemni atpBE and the inference of chloroplast origins ⬇️

scientific article published on April 1, 1992

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.

scientific article

Substitutional bias confounds inference of cyanelle origins from sequence data

scientific article published on February 1, 1992

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

scientific article published on 13 February 2017

Teaching NeuroImages: Imaging features ofDCC-mediated mirror movements and isolated agenesis of the corpus callosum

scientific article published on 01 August 2018

The COMT Val158 allele is associated with impaired delayed-match-to-sample performance in ADHD.

scientific article

The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval

scientific article

The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease

scientific article published on 9 January 2018

The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3.

scientific article published in February 2002

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

scientific article published on 27 October 2020

Translation initiator EIF4G1 mutations in familial Parkinson disease

scientific article (publication date: 9 September 2011)

alpha-synuclein gene haplotypes are associated with Parkinson's disease

article

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible

scientific article published on 11 January 2012

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