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Diagnosis of Spinocerebellar Ataxias Caused by Trinucleotide Repeat Expansions

Current Protocols in Human Genetics, 2017-01, Vol.92 (1), p.9.30.1-9.30.22

Martindale, Joanne E.

2017

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Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations

Human mutation, 2012-09, Vol.33 (9), p.1359-1365

2012

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Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis: Table 1

Practical neurology, 2015-08, Vol.15 (4), p.280-283

2015

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Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias

European journal of human genetics : EJHG, 2010-11, Vol.18 (11), p.1188-1195

2010

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Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

Brain (London, England : 1878), 2012-03, Vol.135 (Pt 3), p.751-764

2012

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EMQN Best Practice Guidelines for molecular genetic testing of SCAs: Prepared on behalf of the European Molecular Quality Genetics Network (EMQN)

European journal of human genetics : EJHG, 2010-11, Vol.18 (11), p.1173-1176

2010

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Features of multiple self‐healing squamous epithelioma and Loeys‐Dietz syndrome in a patient with a novel TGFBR1 variant

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2892-2895

2018

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A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor

Movement disorders, 2013-06, Vol.28 (6), p.842-843

2013

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Congenital myotonic dystrophy: natural disease progression and facial dysmorphology

Clinical dysmorphology, 2014-10, Vol.23 (4), p.127

2014

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Variable sensory nerve conduction parameters in late onset Friedreich ataxia

Muscle & nerve, 2017-02, Vol.55 (2), p.E7-E8

2017

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Corrigendum to: EMQN Best Practice Guidelines for molecular genetic testing of SCAs

European journal of human genetics : EJHG, 2010-11, Vol.18 (11), p.1176-1177

2010

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Erratum: Corrigendum to: EMQN Best Practice Guidelines for molecular genetic testing of SCAs

European journal of human genetics : EJHG, 2010-10, Vol.18 (11), p.1176-1177

2010

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Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis

Practical neurology, 2015-08, Vol.15 (4), p.280-283

2015

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Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2013-09, Vol.14 (5-6), p.473-475

2013

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EMQN Best Practice Guidelines for molecular genetic testing of SCAs

European journal of human genetics : EJHG, 2010-11, Vol.18 (11), p.1173-1176

2010

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A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease

Journal of clinical neuromuscular disease, 2012-06, Vol.13 (4), p.206

2012

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Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2013, Vol.14 (5-6), p.473-475

2013

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A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor

Movement disorders : official journal of the Movement Disorder Society, 2013, Vol.28 (6), p.842-843

2013

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Exercises to improve function of the rheumatoid hand (SARAH): a randomised controlled trial

The Lancet (British edition), 2015-01, Vol.385 (9966), p.421-429

2015

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Digital Footprints in the Video Stream: Survey study of reflections on digital traces of media consumption and potential to use this for insights into well-being

International journal of population data science, 2023-09, Vol.8 (3)

2023

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Strengthening and stretching for rheumatoid arthritis of the hand (SARAH): design of a randomised controlled trial of a hand and upper limb exercise intervention--ISRCTN89936343

BMC musculoskeletal disorders, 2012-11, Vol.13 (1), p.230-230, Article 230

2012

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Gene Expression Analysis in Three Posttraumatic Stress Disorder Cohorts Implicates Inflammation and Innate Immunity Pathways and Uncovers Shared Genetic Risk With Major Depressive Disorder

Frontiers in neuroscience, 2021-07, Vol.15, p.678548-678548

2021

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Interacting with Members of the Public to Discuss the Impact of Food Choices on Climate Change-Experiences from Two UK Public Engagement Events

Sustainability, 2020-03, Vol.12 (6), p.2323

2020

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Supporting Capacity Building in Health Service Provision in Eritrea via Distance Learning Master’s Programmes: The Challenges and Rewards

International review of research in open and distance learning, 2017-08, Vol.18 (5), p.1-14

2017

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Diagnosis of Spinocerebellar Ataxias Caused by Trinucleotide Repeat Expansions

Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations

Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis: Table 1

Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

EMQN Best Practice Guidelines for molecular genetic testing of SCAs: Prepared on behalf of the European Molecular Quality Genetics Network (EMQN)

Features of multiple self‐healing squamous epithelioma and Loeys‐Dietz syndrome in a patient with a novel TGFBR1 variant

A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor

Congenital myotonic dystrophy: natural disease progression and facial dysmorphology

Variable sensory nerve conduction parameters in late onset Friedreich ataxia

Corrigendum to: EMQN Best Practice Guidelines for molecular genetic testing of SCAs

Erratum: Corrigendum to: EMQN Best Practice Guidelines for molecular genetic testing of SCAs

Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis

Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis

EMQN Best Practice Guidelines for molecular genetic testing of SCAs

A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease

Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis

A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor

Exercises to improve function of the rheumatoid hand (SARAH): a randomised controlled trial

Digital Footprints in the Video Stream: Survey study of reflections on digital traces of media consumption and potential to use this for insights into well-being

Strengthening and stretching for rheumatoid arthritis of the hand (SARAH): design of a randomised controlled trial of a hand and upper limb exercise intervention--ISRCTN89936343

Gene Expression Analysis in Three Posttraumatic Stress Disorder Cohorts Implicates Inflammation and Innate Immunity Pathways and Uncovers Shared Genetic Risk With Major Depressive Disorder

Interacting with Members of the Public to Discuss the Impact of Food Choices on Climate Change-Experiences from Two UK Public Engagement Events

Supporting Capacity Building in Health Service Provision in Eritrea via Distance Learning Master’s Programmes: The Challenges and Rewards

Mud map: Australian women’s experimental writing

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