List of works - Evan Reid

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

scientific article

A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13

scientific article

A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity

scientific article

A report of paracentric inversion of chromosome 8 in Moebius syndrome

scientific article

A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex

scientific journal article

An Automated Image Analysis System to Quantify Endosomal Tubulation

scientific article

An ESCRT-spastin interaction promotes fission of recycling tubules from the endosome.

scientific article

An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion

scientific article published on 27 July 2007

Autosomal dominant juvenile recurrent parotitis.

scientific article

Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity

scientific article published on 01 November 1999

Axonal transport deficit in a KIF5A( -/- ) mouse model

scientific article published on April 2012

BMP- and neuropilin 1-mediated motor axon navigation relies on spastin alternative translation

scientific article published on 12 September 2018

Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity

scientific article published in October 2000

CTLA-4/CD28 gene region is associated with genetic susceptibility to coeliac disease in UK families.

scientific article published in January 2002

Coeliac disease: investigation of proposed causal variants in the CTLA4 gene region

article

Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia

scientific article

Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing

scientific article

Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules

scientific article

ESCRT-III-associated proteins and spastin inhibit protrudin-dependent polarised membrane traffic

scientific article published on 05 October 2019

Endocytic membrane fusion and buckling-induced microtubule severing mediate cell abscission

scientific article

Endocytic membrane fusion and buckling-induced microtubule severing mediate cell abscission

scientific article published in 2011

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in <i>HPDL</i>

scientific article published on 28 January 2021

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

scientific article published on 31 July 2019

Hereditary spastic paraplegias: membrane traffic and the motor pathway

scientific article published on January 2011

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

scientific article

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

scientific article

Locus-phenotype correlations in autosomal dominant pure hereditary spastic paraplegia. A clinical and molecular genetic study of 28 United Kingdom families

scientific article published in September 1999

Many pathways lead to hereditary spastic paraplegia

scientific article published on 01 April 2003

Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class.

scientific article published on September 2003

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

scientific article (publication date: August 2007)

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

scientific article

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

scientific article

Oral contraceptives and venous thromboembolism

article published in 1997

Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias

scientific article published on 18 January 2012

Protrudin functions from the endoplasmic reticulum to support axon regeneration in the adult CNS

scientific article published on 05 November 2020

Pure hereditary spastic paraplegia.

scientific article

Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin

scientific article (publication date: 2016)

Recurrent pneumothorax

scientific article published on 01 May 2011

Reticulon-like-1, the Drosophila orthologue of the Hereditary Spastic Paraplegia gene reticulon 2, is required for organization of endoplasmic reticulum and of distal motor axons ⬇️

scientific article published on April 27, 2012

Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias

scientific article

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

scientific article published in February 2003

Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function

scientific article published on 08 November 2019

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners

scientific article published on 8 December 2005

Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion

scientific article published in January 2009

The AAA ATPase spastin links microtubule severing to membrane modelling.

scientific article published on 25 August 2011

The cargo-selective retromer complex is a recruiting hub for protein complexes that regulate endosomal tubule dynamics

scientific article

The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function

scientific article published on 23 October 2012

The hereditary spastic paraplegias.

scientific article

X-linked adrenoleukodystrophy presenting as autosomal dominant pure hereditary spastic paraparesis.

scientific article published on May 2004

List of works by Evan Reid

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13

A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity

A report of paracentric inversion of chromosome 8 in Moebius syndrome

A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex

An Automated Image Analysis System to Quantify Endosomal Tubulation

An ESCRT-spastin interaction promotes fission of recycling tubules from the endosome.

An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion

Autosomal dominant juvenile recurrent parotitis.

Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity

Axonal transport deficit in a KIF5A( -/- ) mouse model

BMP- and neuropilin 1-mediated motor axon navigation relies on spastin alternative translation

Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity

CTLA-4/CD28 gene region is associated with genetic susceptibility to coeliac disease in UK families.

Coeliac disease: investigation of proposed causal variants in the CTLA4 gene region

Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia

Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing

Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules

ESCRT-III-associated proteins and spastin inhibit protrudin-dependent polarised membrane traffic

Endocytic membrane fusion and buckling-induced microtubule severing mediate cell abscission

Endocytic membrane fusion and buckling-induced microtubule severing mediate cell abscission

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in <i>HPDL</i>

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

Hereditary spastic paraplegias: membrane traffic and the motor pathway

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

Locus-phenotype correlations in autosomal dominant pure hereditary spastic paraplegia. A clinical and molecular genetic study of 28 United Kingdom families

Many pathways lead to hereditary spastic paraplegia

Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class.

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

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

Oral contraceptives and venous thromboembolism

Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias

Protrudin functions from the endoplasmic reticulum to support axon regeneration in the adult CNS

Pure hereditary spastic paraplegia.

Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin

Recurrent pneumothorax

Reticulon-like-1, the Drosophila orthologue of the Hereditary Spastic Paraplegia gene reticulon 2, is required for organization of endoplasmic reticulum and of distal motor axons ⬇️

Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners

Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion

The AAA ATPase spastin links microtubule severing to membrane modelling.

The cargo-selective retromer complex is a recruiting hub for protein complexes that regulate endosomal tubule dynamics

The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function

The hereditary spastic paraplegias.

X-linked adrenoleukodystrophy presenting as autosomal dominant pure hereditary spastic paraparesis.