Daniel Rochefort

Journal ArticleDOI

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

- 01 Feb 1998 -

TL;DR: Pathological expansions of the polyalanine tract may cause mutated PABP2 oligomers to accumulate as filament inclusions in nuclei to cause autosomal recessive OPMD.

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Journal ArticleDOI

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

Edor Kabashi, +11 more

- 15 Feb 2010 -

Human Molecular Genetics

TL;DR: Together these approaches showed that TARDBP mutations cause motor neuron defects and toxicity, suggesting that both a toxic gain of function as well as a novel loss of function may be involved in the molecular mechanism by which mutant TDP-43 contributes to disease pathogenesis.

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Journal ArticleDOI

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.

Heidi Carmen Howard, +25 more

- 01 Nov 2002 -

Nature Genetics

TL;DR: These findings identify mutations in SLC12A6 as the genetic lesion underlying ACCPN and suggest a critical role for SLC 12A6 in the development and maintenance of the nervous system.

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Journal ArticleDOI

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

Fadi F. Hamdan, +18 more

- 12 Nov 2010 -

American Journal of Human Genetics

TL;DR: Both FOXP1 and FOXP2 are associated with language impairment, but decrease of the former has a more global impact on brain development than that of the latter.

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Journal ArticleDOI

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Martin H. Berryer, +27 more

- 01 Feb 2013 -

Human Mutation

TL;DR: This study confirms the involvement of SYNGAP1 in autism while providing novel insight into the epileptic manifestations associated with its disruption, and suggests that the de novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYngAP1 result in a loss of its function.

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Papers

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

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

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency