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Prevalence of depression in amyotrophic lateral sclerosis/motor neuron disease: multi-attribute ascertainment and trajectories over 30 months

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2023-02, Vol.24 (1-2), p.82-90

2023

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Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins

Neuropathology and applied neurobiology, 2016-04, Vol.42 (3), p.242-254

2016

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Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

EBioMedicine, 2016-05, Vol.7 (C), p.212-220

2016

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Measuring coping in people with amyotrophic lateral sclerosis using the Coping Index-ALS: A patient derived, Rasch compliant scale

Journal of the neurological sciences, 2021-02, Vol.421, p.117285-117285, Article 117285

2021

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Development and validation of Spasticity Index—Amyotrophic Lateral Sclerosis

Acta neurologica Scandinavica, 2018-07, Vol.138 (1), p.47-54

2018

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Neurosurgical contribution within a complex NF1 supraregional service

Clinical neurology and neurosurgery, 2019-05, Vol.180, p.18-24

2019

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Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation

Neurology, 2005-10, Vol.65 (7), p.1083-1089

2005

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P76 The m.3291 T>C mtDNA mutation causes Ekbom's syndrome: expanding the clinical and genetic phenotype

Neuromuscular disorders : NMD, 2010, Vol.20, p.S25-S25

2010

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Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

Neurology, 2017-10, Vol.89 (18), p.1915-1922

2017

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Lithium in patients with amyotrophic lateral sclerosis (LiCALS): a phase 3 multicentre, randomised, double-blind, placebo-controlled trial

Lancet neurology, 2013-04, Vol.12 (4), p.339-345

2013

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Spinal Lesions in Neurofibromatosis Type 1: Analysis of 149 Cases

International journal of surgery (London, England), 2018-07, Vol.55, p.S1-S1

2018

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064 An unusual cause of myelopathy in neurofibromatosis type one

Journal of neurology, neurosurgery and psychiatry, 2012-03, Vol.83 (3), p.e1-e1

2012

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Mutations in congenital myasthenic syndromes reveal an varepsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR

Human molecular genetics, 2002-11, Vol.11 (24), p.3087-3096

Ealing, J.

2002

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Mutations in congenital myasthenic syndromes reveal an ε subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR

Human molecular genetics, 2002-11, Vol.11 (24), p.3087-3096

2002

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IDENTIFICATION AND CHARACTERISATION OF ALCOHOL-INDUCED FLUSHING IN CAUCASIAN SUBJECTS

Alcohol and alcoholism (Oxford), 1994-07, Vol.29 (4), p.433-438

1994

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A Case of Coeliac Disease Detected via Raised 5-Hydroxytryptamine and 5-Hydroxyindoleacetic Acid

Annals of clinical biochemistry, 1997-07, Vol.34 (4), p.440-441

1997

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The influence of the Ustilago maydis REC1 gene on plasmid-chromosome recombination

Current genetics, 1992-12, Vol.22 (6), p.483-489

1992

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Schwannomatosis: a genetic and epidemiological study

Journal of neurology, neurosurgery and psychiatry, 2018-11, Vol.89 (11), p.1215-1219

2018

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Skills for the aspiring surgeon in Australia : A needs assessment

Focus on health professional education, 2023-07, Vol.24 (2), p.125-141

2023

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Rasch analysis of the hospital anxiety and depression scale (HADS) for use in motor neurone disease

Health and quality of life outcomes, 2011-09, Vol.9 (1), p.82-82

2011

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Plant members of a family of sulfate transporters reveal functional subtypes

Proceedings of the National Academy of Sciences - PNAS, 1995-09, Vol.92 (20), p.9373-9377

1995

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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Lancet neurology, 2012-04, Vol.11 (4), p.323-330

2012

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Do pain, anxiety and depression influence quality of life for people with amyotrophic lateral sclerosis/motor neuron disease? A national study reconciling previous conflicting literature

Journal of neurology, 2020-03, Vol.267 (3), p.607-615

2020

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Acceptance and Commitment Therapy plus usual care for improving quality of life in people with motor neuron disease (COMMEND): a multicentre, parallel, randomised controlled trial in the UK

The Lancet (British edition), 2024-06, Vol.403 (10442), p.2381-2394

2024

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Prevalence of depression in amyotrophic lateral sclerosis/motor neuron disease: multi-attribute ascertainment and trajectories over 30 months

Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

Measuring coping in people with amyotrophic lateral sclerosis using the Coping Index-ALS: A patient derived, Rasch compliant scale

Development and validation of Spasticity Index—Amyotrophic Lateral Sclerosis

Neurosurgical contribution within a complex NF1 supraregional service

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation

P76 The m.3291 T>C mtDNA mutation causes Ekbom's syndrome: expanding the clinical and genetic phenotype

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

Lithium in patients with amyotrophic lateral sclerosis (LiCALS): a phase 3 multicentre, randomised, double-blind, placebo-controlled trial

Spinal Lesions in Neurofibromatosis Type 1: Analysis of 149 Cases

064 An unusual cause of myelopathy in neurofibromatosis type one

Mutations in congenital myasthenic syndromes reveal an varepsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR

Mutations in congenital myasthenic syndromes reveal an ε subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR

IDENTIFICATION AND CHARACTERISATION OF ALCOHOL-INDUCED FLUSHING IN CAUCASIAN SUBJECTS

A Case of Coeliac Disease Detected via Raised 5-Hydroxytryptamine and 5-Hydroxyindoleacetic Acid

The influence of the Ustilago maydis REC1 gene on plasmid-chromosome recombination

Schwannomatosis: a genetic and epidemiological study

Skills for the aspiring surgeon in Australia : A needs assessment

Rasch analysis of the hospital anxiety and depression scale (HADS) for use in motor neurone disease

Plant members of a family of sulfate transporters reveal functional subtypes

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Do pain, anxiety and depression influence quality of life for people with amyotrophic lateral sclerosis/motor neuron disease? A national study reconciling previous conflicting literature

Acceptance and Commitment Therapy plus usual care for improving quality of life in people with motor neuron disease (COMMEND): a multicentre, parallel, randomised controlled trial in the UK

Clinical trials in amyotrophic lateral sclerosis: a systematic review and perspective

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