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Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

Science (American Association for the Advancement of Science), 2009-02, Vol.323 (5918), p.1205-1208

2009

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Neurons derived from patients with bipolar disorder divide into intrinsically different sub-populations of neurons, predicting the patients' responsiveness to lithium

Molecular psychiatry, 2018-06, Vol.23 (6), p.1453-1465

2018

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Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis

Journal of medical genetics, 2009-02, Vol.46 (2), p.112-114

2009

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Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

Molecular psychiatry, 2011-08, Vol.16 (8), p.867-880

2011

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A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders

Molecular psychiatry, 2011-03, Vol.16 (3), p.238-239

2011

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Patterns of gene expression in the limbic system of suicides with and without major depression

Molecular psychiatry, 2007-07, Vol.12 (7), p.640-655

2007

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Alpha galactosidase A activity in Parkinson's disease

Neurobiology of disease, 2018-04, Vol.112, p.85-90

2018

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Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors

Molecular psychiatry, 2018-10, Vol.23 (10), p.2050-2056

2018

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Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia

Translational psychiatry, 2011-11, Vol.1 (11), p.e55-e55

2011

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Mutations in FUS cause FALS and SALS in French and French Canadian populations

Neurology, 2009-10, Vol.73 (15), p.1176-1179

2009

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Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

Neurology, 2012-05, Vol.78 (19), p.1519-1526

2012

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Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures

Clinical genetics, 2017-03, Vol.91 (3), p.470-475

2017

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Novel integrative genomic tool for interrogating lithium response in bipolar disorder

Translational psychiatry, 2015-02, Vol.5 (2), p.e504-e504

2015

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A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly

Clinical genetics, 2015-07, Vol.88 (1), p.E1-E4

2015

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The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2

Journal of Medical Genetics, 2005-07, Vol.42 (7), p.540-546

2005

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A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13

Neurology, 2006-09, Vol.67 (5), p.900-901

2006

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Administration of testosterone results in reversible deterioration in Kennedy’s disease

Journal of neurology, neurosurgery and psychiatry, 2008-01, Vol.79 (1), p.106-107

2008

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Evidence for a genetic association between monoamine oxidase A and restless legs syndrome

Neurology, 2002-07, Vol.59 (2), p.215-219

2002

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Canadian restless legs syndrome twin study

Neurology, 2007-05, Vol.68 (19), p.1631-1633

2007

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Posttranslational modifications & lithium’s therapeutic effect—Potential biomarkers for clinical responses in psychiatric & neurodegenerative disorders

Neuroscience and biobehavioral reviews, 2021-08, Vol.127, p.424-445

2021

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Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease

Clinical genetics, 2013-06, Vol.83 (6), p.571-575

2013

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A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

Neurology, 2009-07, Vol.73 (1), p.16-24

2009

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Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA

Human molecular genetics, 2000-09, Vol.9 (15), p.2321-2328

2000

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Mapping susceptibility genes for bipolar disorder : a pharmacogenetic approach based on excellent response to lithium

Molecular psychiatry, 2001-09, Vol.6 (5), p.570-578

2001

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Familial congenital mirror movements: report of a large 4-generation family

Neurology, 2009-09, Vol.73 (9), p.729-731

2009

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Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

Neurons derived from patients with bipolar disorder divide into intrinsically different sub-populations of neurons, predicting the patients' responsiveness to lithium

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders

Patterns of gene expression in the limbic system of suicides with and without major depression

Alpha galactosidase A activity in Parkinson's disease

Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia

Mutations in FUS cause FALS and SALS in French and French Canadian populations

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures

Novel integrative genomic tool for interrogating lithium response in bipolar disorder

A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2

A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13

Administration of testosterone results in reversible deterioration in Kennedy’s disease

Evidence for a genetic association between monoamine oxidase A and restless legs syndrome

Canadian restless legs syndrome twin study

Posttranslational modifications & lithium’s therapeutic effect—Potential biomarkers for clinical responses in psychiatric & neurodegenerative disorders

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease

A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA

Mapping susceptibility genes for bipolar disorder : a pharmacogenetic approach based on excellent response to lithium

Familial congenital mirror movements: report of a large 4-generation family

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