Lista de obras - Patrick A Dion - Dominio Público Uruguay

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

ALS: Recent Developments from Genetics Studies

artículo científico publicado en 2016

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

artículo científico publicado en 2008

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2018

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

artículo científico publicado en 2013

C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder

artículo científico publicado en 2014

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

artículo científico publicado en 2016

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

artículo científico publicado en 2017

CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Clinical and genetic study of hereditary spastic paraplegia in Canada

artículo científico publicado en 2016

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

artículo científico

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

artículo científico

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

De novo variants in sporadic cases of childhood onset schizophrenia

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Dissection of genetic factors associated with amyotrophic lateral sclerosis

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Exome sequencing identifies FUS mutations as a cause of essential tremor

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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.

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

FET proteins regulate lifespan and neuronal integrity

artículo científico publicado en 2016

FOXP1-related intellectual disability syndrome: a recognisable entity

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

Genetic markers of Restless Legs Syndrome in Parkinson disease

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Genetics of Intracranial Aneurysms

article

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

artículo científico

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

artículo científico publicado en 2009

Genetics of restless legs syndrome

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2018

Identification of novelFUSmutations in sporadic cases of amyotrophic lateral sclerosis ⬇️

artículo científico publicado el 24 de enero de 2011

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

artículo científico publicado en 2015

Increased exonic de novo mutation rate in individuals with schizophrenia

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Investigation of C9orf72 repeat expansions in Parkinson's disease

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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.

artículo científico publicado en 2011

LINGO1 variants in the French-Canadian population

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Molecular aspects of hereditary spastic paraplegia

artículo científico publicado en 2014

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

artículo científico publicado en 2007

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.

artículo científico publicado en 2012

Mutation burden of rare variants in schizophrenia candidate genes

artículo científico publicado en 2015

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

artículo científico publicado en 2016

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

artículo científico publicado en 2016

Mutations in DCC cause congenital mirror movements.

artículo científico publicado en 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 2007

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

artículo científico publicado en 2016

No Effect on SOD1 Splicing by TARDP or FUS Mutations ⬇️

artículo científico publicado el 1 de marzo de 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Recent advances in the genetics of amyotrophic lateral sclerosis

artículo científico publicado en 2009

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2015

Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

SYNE1 mutations in autosomal recessive cerebellar ataxia

artículo científico publicado en 2013

Schizophrenia genetics: putting all the pieces together

artículo científico

Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy

artículo científico publicado en 2007

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

The FUS about arginine methylation in ALS and FTLD.

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2011

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Where are the missing pieces of the schizophrenia genetics puzzle?

artículo científico publicado en 2011

Lista de obras de Patrick A Dion

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

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

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

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

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

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

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

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

ALS: Recent Developments from Genetics Studies

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

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

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

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

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

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

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis

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

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

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

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

CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects

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

Clinical and genetic study of hereditary spastic paraplegia in Canada

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

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

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

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

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

De novo variants in sporadic cases of childhood onset schizophrenia

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

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

Dissection of genetic factors associated with amyotrophic lateral sclerosis

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

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

Exome sequencing identifies FUS mutations as a cause of essential tremor

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

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

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

Exome sequencing reveals SPG11 mutations causing juvenile ALS

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

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

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

FET proteins regulate lifespan and neuronal integrity

FOXP1-related intellectual disability syndrome: a recognisable entity

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

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

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

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

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

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

Genetic markers of Restless Legs Syndrome in Parkinson disease

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

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

Genetics of Intracranial Aneurysms

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

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

Genetics of restless legs syndrome

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

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

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

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

Identification of novelFUSmutations in sporadic cases of amyotrophic lateral sclerosis ⬇️

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

Increased exonic de novo mutation rate in individuals with schizophrenia

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

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

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

Investigation of C9orf72 repeat expansions in Parkinson's disease

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

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

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

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

LINGO1 variants in the French-Canadian population

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

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

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