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

Human molecular genetics, 2015-03, Vol.24 (5), p.1363-1373

2015

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

Human genetics, 2011-10, Vol.130 (4), p.563-573

2011

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

PloS one, 2016-10, Vol.11 (10), p.e0164212-e0164212

2016

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De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

Annals of neurology, 2009-06, Vol.65 (6), p.748-753

2009

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Molecular aspects of hereditary spastic paraplegia

Experimental Cell Research, 2014-07, Vol.325 (1), p.18-26

2014

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Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia

JAMA neurology, 2014-04, Vol.71 (4), p.470

2014

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Increased exonic de novo mutation rate in individuals with schizophrenia

Nature genetics, 2011-09, Vol.43 (9), p.860-863

2011

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Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

American journal of human genetics, 2012-08, Vol.91 (2), p.313-319

2012

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Exome sequencing reveals SPG11 mutations causing juvenile ALS

Neurobiology of aging, 2012-04, Vol.33 (4), p.839.e5-839.e9

2012

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Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

American journal of human genetics, 2013-07, Vol.93 (1), p.118-123

2013

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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 SYNGAP1 in Autosomal Nonsyndromic Mental Retardation

The New England journal of medicine, 2009-02, Vol.360 (6), p.599-605

2009

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SYNE1 mutations cause adult onset autosomal recessive ataxia with retained reflexes in Brazilian patients (P3.004)

Neurology, 2017-04, Vol.88 (16_supplement)

2017

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Dopamine transporter SLC6A3 genotype affects cortico-striatal activity of set-shifts in Parkinson's disease

Brain (London, England : 1878), 2014-11, Vol.137 (Pt 11), p.3025-3035

2014

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Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

American journal of human genetics, 2014-02, Vol.94 (2), p.268-277

2014

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SYNE1 mutations in autosomal recessive cerebellar ataxia

JAMA neurology, 2013-10, Vol.70 (10), p.1296

2013

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Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis

Annals of neurology, 2011-07, Vol.70 (1), p.170-175

2011

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Exome Sequencing Reveals PMM2-CDG Gene Mutations in French-Canadian Siblings with Recessive Cerebellar Ataxia, Hand Tremor and Cognitive Impairment (P05.041)

Neurology, 2013-02, Vol.80 (7_supplement)

2013

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

Movement disorders, 2016-11, Vol.31 (11), p.1754-1756

2016

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Two Novel Ataxia Phenotypes in the French-Canadian Population (P2.116)

Neurology, 2015-04, Vol.84 (14_supplement)

2015

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Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene

European journal of neurology, 2014-01, Vol.21 (1), p.e2-e2

2014

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Therapies for Ataxias

Current treatment options in neurology, 2014-07, Vol.16 (7), p.300-300, Article 300

2014

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Early impact of 5-HTTLPR polymorphism on the neural correlates of sadness

Neuroscience letters, 2010-11, Vol.485 (3), p.261-265

2010

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Investigation of C9orf72 repeat expansions in Parkinson's disease

Neurobiology of aging, 2013-06, Vol.34 (6), p.1710.e7-1710.e9

2013

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

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

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

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

Molecular aspects of hereditary spastic paraplegia

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia

Increased exonic de novo mutation rate in individuals with schizophrenia

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

Exome sequencing reveals SPG11 mutations causing juvenile ALS

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

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

Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation

SYNE1 mutations cause adult onset autosomal recessive ataxia with retained reflexes in Brazilian patients (P3.004)

Dopamine transporter SLC6A3 genotype affects cortico-striatal activity of set-shifts in Parkinson's disease

Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

SYNE1 mutations in autosomal recessive cerebellar ataxia

Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis

Exome Sequencing Reveals PMM2-CDG Gene Mutations in French-Canadian Siblings with Recessive Cerebellar Ataxia, Hand Tremor and Cognitive Impairment (P05.041)

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

Two Novel Ataxia Phenotypes in the French-Canadian Population (P2.116)

Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene

Therapies for Ataxias

Early impact of 5-HTTLPR polymorphism on the neural correlates of sadness

Investigation of C9orf72 repeat expansions in Parkinson's disease

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