List of works by Patrick A Dion

A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia

scientific article published on 8 October 2016

A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia

scientific article published on 01 August 2015

A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1

scientific article published in Scientific Reports

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

scientific article published on 28 November 2010

A mutation that creates a pseudoexon in SOD1 causes familial ALS.

scientific article published in November 2009

A novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain

scientific article published on 12 July 2014

A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors

scientific article

ALS predisposition modifiers: knock NOX, who's there? SOD1 mice still are.

scientific article published on 28 November 2007

ALS: Recent Developments from Genetics Studies

scientific article published on June 2016

Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.

scientific article published on 16 June 2008

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

scientific article published on 06 June 2013

Amyotrophic lateral sclerosis: new genes, new models, and new mechanisms

scientific article

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease

scientific article published on 3 May 2016

Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis

scientific article published in August 2010

Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome

scientific article published on 17 June 2015

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis

scientific article published on 22 February 2012

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

scientific article

Association study of essential tremor genetic loci in Parkinson's disease

scientific article published on 6 January 2018

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

scientific article

C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder

scientific article published on 4 November 2014

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

CPT1A Missense Mutation Associated With Fatty Acid Metabolism and Reduced Height in Greenlanders

scientific article published on June 2017

CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects

scientific article published on 01 January 2012

Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis

scientific article

Clinical and genetic study of hereditary spastic paraplegia in Canada

scientific article published on 5 December 2016

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Comparative analysis of the expression profile of Wnk1 and Wnk1/Hsn2 splice variants in developing and adult mouse tissues

scientific article

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

scientific article published on 17 April 2018

De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia

scientific article published on 10 March 2016

De novo variants in sporadic cases of childhood onset schizophrenia

scientific article published on 28 October 2015

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

scientific article

Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans

scientific article

Dissection of genetic factors associated with amyotrophic lateral sclerosis

scientific article published on 26 April 2014

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19

scientific article

Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients

scientific article

Exome sequencing identifies FUS mutations as a cause of essential tremor

scientific article

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum

scientific article published on 22 July 2015

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

scientific article published on 19 February 2015

Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum

scientific article

Exome sequencing reveals SPG11 mutations causing juvenile ALS

scientific article published on 10 December 2011

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

scientific article published on 27 February 2018

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

scientific article published on 22 October 2014

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.

scientific article published on 14 February 2012

FET proteins regulate lifespan and neuronal integrity

scientific article published on 27 April 2016

FOXP1-related intellectual disability syndrome: a recognisable entity

scientific article

Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder

scientific article published on 17 September 2013

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder

scholarly article by Jiao Li et al published July 2018 in Movement Disorders

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

scientific article

GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis

scientific article published on 08 September 2016

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

scientific article

Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia

scientific article published on 27 June 2012

Genetic markers of Restless Legs Syndrome in Parkinson disease

scientific article published on 17 March 2015

Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

scientific article

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

scientific article

Genetics of Intracranial Aneurysms

article

Genetics of essential tremor: from phenotype to genes, insights from both human and mouse studies

scientific article published on 10 May 2014

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

scientific article published on 13 October 2009

Genetics of restless legs syndrome

scientific article published on 12 November 2016

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

scientific article published on 12 March 2018

Genome-wide association study in essential tremor identifies three new loci

scientific article published on 20 October 2016

Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort.

scientific article published in September 2011

Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing.

scientific article published on 8 March 2018

Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis

scientific article

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients

scientific article published on 22 April 2015

Increased exonic de novo mutation rate in individuals with schizophrenia

scientific article published on 10 July 2011

Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population

scientific article published on 26 May 2015

Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition

scientific article

Investigating the association and causal relationship between restless legs syndrome and essential tremor

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis

scientific article published on 26 February 2013

Investigation of C9orf72 repeat expansions in Parkinson's disease

scientific article published on 27 December 2012

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease

scientific article published on 20 February 2013

KCC3 axonopathy: neuropathological features in the central and peripheral nervous system

scientific article

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects

article

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

scientific article

LINGO1 variants in the French-Canadian population

scientific article (publication date: 11 January 2011)

LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis

scientific article published on 5 May 2015

Letter to the editors: comment on "hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families".

scientific article

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

scientific article

Molecular aspects of hereditary spastic paraplegia

scientific article published on 11 March 2014

Molecular genetic studies of DMT1 on 12q in French-Canadian restless legs syndrome patients and families

scientific article

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.

scientific article published on 10 October 2012

Mutation burden of rare variants in schizophrenia candidate genes

scientific article published on 3 June 2015

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

scientific article published on May 2016

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

scientific article published on June 2016

Mutations in DCC cause congenital mirror movements.

scientific article

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia

scientific article published on 10 December 2006

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

scientific article

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

No effect on SOD1 splicing by TARDP or FUS mutations.

scientific article

No evidence for GADL1 variation as a bipolar disorder susceptibility factor in a Caucasian lithium-responsive cohort

scientific article

Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis.

scientific article published in May 2012

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family

scientific article published on 11 August 2015

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

scientific article

Potassium-chloride cotransporter 3 interacts with Vav2 to synchronize the cell volume decrease response with cell protrusion dynamics

scientific article published on 28 May 2013

RIC3 variants are not associated with Parkinson's disease in French-Canadians and French

scientific article

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population

scientific article published on 30 September 2016

Rare variants in complex traits: novel identification strategies and the role of de novo mutations

scientific article published on January 2012

Recent advances in the genetics of amyotrophic lateral sclerosis

scientific article published on May 2009

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

scientific article published on 28 September 2015

Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis

scientific article published on 27 June 2011

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

scientific article published on 25 February 2016

SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.

scientific article

SYNE1 mutations in autosomal recessive cerebellar ataxia

scientific article

Schizophrenia genetics: putting all the pieces together

scientific article published on June 2012

Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy

scientific article

TOX3 Variants Are Involved in Restless Legs Syndrome and Parkinson's Disease with Opposite Effects

scientific article

Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population

scientific article published on 3 February 2017

The FUS about arginine methylation in ALS and FTLD.

scientific article published on 19 October 2012

The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder

scientific article

The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder

scientific article published on 06 April 2016

Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice

scientific article (publication date: April 2005)

Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum

scientific article published on 31 May 2011

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families

scientific article

WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio)

scientific article

Where are the missing pieces of the schizophrenia genetics puzzle?

scientific article

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