List of works - Mark I Rees

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

scientific article

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

scientific article

The genetics of hyperekplexia: more than startle!

scientific article published on 15 August 2008

Association studies of bipolar disorder at the human serotonin transporter gene (hSERT; 5HTT).

scientific article published in September 1997

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

scientific article

A Two-Stage Genome Scan for Schizophrenia Susceptibility Genes in 196 Affected Sibling Pairs

article

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)

scientific article

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

scientific article (publication date: December 1994)

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

scientific article published on July 2010

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

scientific article

Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function

scientific article

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia

scientific article (publication date: 4 July 2003)

An ovine transgenic Huntington's disease model

scientific article

Immunohistochemical staining of post-mortem adult human brain sections.

scientific article published in January 2006

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)

scientific article (publication date: February 2000)

Dynamic changes in myelin aberrations and oligodendrocyte generation in chronic amyloidosis in mice and men.

scientific article published on 22 October 2012

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

scientific article published on April 2014

Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia

scientific article published on September 1, 2001

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

scientific article

Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype

scientific article

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

scientific article

No evidence for allelic association between bipolar disorder and monoamine oxidase A gene polymorphisms

scientific article published on August 1995

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

scientific article published on 30 June 2015

Sox-2 is expressed by glial and progenitor cells and Pax-6 is expressed by neuroblasts in the human subventricular zone

scientific article

Near-miss SIDS due to Brugada syndrome

scientific article published in May 2005

Complement is activated in progressive multiple sclerosis cortical grey matter lesions

scientific article published on 22 June 2016

Posthumous diagnosis of long QT syndrome from neonatal screening cards

article

A genomewide linkage study of age at onset in schizophrenia

article

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene

scientific article

GLRB is the third major gene of effect in hyperekplexia.

scientific article published on 25 November 2012

Differential localization of gamma-aminobutyric acid type A and glycine receptor subunits and gephyrin in the human pons, medulla oblongata and uppermost cervical segment of the spinal cord: an immunohistochemical study.

scientific article published in February 2010

The glycinergic system in human startle disease: a genetic screening approach

scientific article

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

scientific article published on 10 December 2012

Bipolar disorder and the serotonin transporter gene: a family-based association study

article

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

scientific article

Association of gephyrin and glycine receptors in the human brainstem and spinal cord: an immunohistochemical analysis.

scientific article published in January 2003

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

scientific article published on 09 October 2013

PICK1 interacts with alpha7 neuronal nicotinic acetylcholine receptors and controls their clustering.

scientific article published on 24 March 2007

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

scientific article

Misdiagnosis of long QT syndrome as epilepsy at first presentation

scientific article published on 12 March 2009

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

scientific article

A critical role for glycine transporters in hyperexcitability disorders

scientific article

Brugada syndrome masquerading as febrile seizures

scientific article published on 9 April 2007

Localization of glycine receptors in the human forebrain, brainstem, and cervical spinal cord: an immunohistochemical review

scientific article

Glycine receptors in the striatum, globus pallidus, and substantia nigra of the human brain: an immunohistochemical study

scientific article

Weight change associated with antiepileptic drugs

scientific article

A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

scientific article

Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

scientific article published on 22 May 2009

Characterisation, mutation detection, and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia.

scientific article published in January 2002

Trends in the first antiepileptic drug prescribed for epilepsy between 2000 and 2010.

scientific article published on 19 September 2013

List of works by Mark I Rees

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

The genetics of hyperekplexia: more than startle!

Association studies of bipolar disorder at the human serotonin transporter gene (hSERT; 5HTT).

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

A Two-Stage Genome Scan for Schizophrenia Susceptibility Genes in 196 Affected Sibling Pairs

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia

An ovine transgenic Huntington's disease model

Immunohistochemical staining of post-mortem adult human brain sections.

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)

Dynamic changes in myelin aberrations and oligodendrocyte generation in chronic amyloidosis in mice and men.

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

No evidence for allelic association between bipolar disorder and monoamine oxidase A gene polymorphisms

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Sox-2 is expressed by glial and progenitor cells and Pax-6 is expressed by neuroblasts in the human subventricular zone

Near-miss SIDS due to Brugada syndrome

Complement is activated in progressive multiple sclerosis cortical grey matter lesions

Posthumous diagnosis of long QT syndrome from neonatal screening cards

A genomewide linkage study of age at onset in schizophrenia

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene

GLRB is the third major gene of effect in hyperekplexia.

Differential localization of gamma-aminobutyric acid type A and glycine receptor subunits and gephyrin in the human pons, medulla oblongata and uppermost cervical segment of the spinal cord: an immunohistochemical study.

The glycinergic system in human startle disease: a genetic screening approach

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

Bipolar disorder and the serotonin transporter gene: a family-based association study

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

Association of gephyrin and glycine receptors in the human brainstem and spinal cord: an immunohistochemical analysis.

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

PICK1 interacts with alpha7 neuronal nicotinic acetylcholine receptors and controls their clustering.

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

Misdiagnosis of long QT syndrome as epilepsy at first presentation

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

A critical role for glycine transporters in hyperexcitability disorders

Brugada syndrome masquerading as febrile seizures

Localization of glycine receptors in the human forebrain, brainstem, and cervical spinal cord: an immunohistochemical review

Glycine receptors in the striatum, globus pallidus, and substantia nigra of the human brain: an immunohistochemical study

Weight change associated with antiepileptic drugs

A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

Characterisation, mutation detection, and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia.

Trends in the first antiepileptic drug prescribed for epilepsy between 2000 and 2010.