List of works by Richard H. Roxburgh

A 'limb-girdle muscular dystrophy' responsive to asthma therapy.

scientific article published on 22 April 2017

A genome screen for multiple sclerosis in Italian families.

scientific article

A pain in the neck

scientific article published on 08 June 2013

A retrospective study of the impact of lifestyle on age at onset of Huntington disease.

scientific article published in July 2010

A whole genome screen for linkage disequilibrium in multiple sclerosis confirms disease associations with regions previously linked to susceptibility

scientific article published in June 2002

An investigation of the relationship between latitude and multiple sclerosis severity in New Zealand.

scientific article published on 2 October 2015

Andersen-Tawil syndrome presenting as a fixed myopathy.

scientific article published on 30 August 2013

Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome.

scientific article published on 28 July 2014

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

scientific article published on 10 November 2017

Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease).

scientific article published on 11 June 2011

Congestive myeloradiculopathy in a patient with Cowden syndrome

scientific article published on 7 October 2014

Corneal nerve microstructure in Parkinson's disease

scientific article published on 3 March 2017

Cortical interneuron loss and symptom heterogeneity in Huntington disease

scientific article published on 13 May 2014

Crohn's associated NOD2 gene variants are not involved in determining susceptibility to multiple sclerosis.

scientific article published in August 2003

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Epiretinal membrane: a treatable cause of visual disability in myotonic dystrophy type 1.

scientific article

Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia

scientific article published on 15 May 2017

Globus pallidus degeneration and clinicopathological features of Huntington disease

scientific article published on 3 June 2016

HLA-DR 15 is associated with female sex and younger age at diagnosis in multiple sclerosis.

scientific article

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study

scientific article

Health Care Delivery Practices in Huntington's Disease Specialty Clinics: An International Survey.

scientific article

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study

scientific article

Hypoventilation in glycine-receptor antibody related progressive encephalomyelitis, rigidity and myoclonus

scientific article

Interleukin 1 receptor antagonist (IL-1ra) in multiple sclerosis

scientific article published on 01 June 2000

Japanese encephalitis acquired during travel in China

scientific article published on 01 August 2005

Looking out for the blind spot.

scientific article published on 18 August 2015

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

scientific article published on 27 October 2013

Mystery Case: Cutaneous lesions in KRIT1-associated cerebral cavernous malformations

scientific article published in September 2014

Neurological picture. Distinctive MRI abnormalities in a man with dentatorubral-pallidoluysian atrophy.

scientific article published on 22 February 2012

Neuronopathy and neuropathy in autosomal dominant spino-cerebellar ataxia (SCA): A preliminary peripheral nerve ultrasound study.

scientific article published on 12 October 2017

No evidence of a significant role for CTLA-4 in multiple sclerosis

article

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.

scientific article published in March 2009

Ophthalmic findings in myotonic dystrophy type 2: a case series.

scientific article published on 2 November 2016

Ophthalmic manifestations of inherited neurodegenerative disorders

scientific article published on 20 May 2014

Optical coherence tomography findings in Huntington's disease: a potential biomarker of disease progression

scientific article published on 2 August 2015

Optical coherence tomography findings in a patient with type 1 sialidosis.

scientific article published in April 2016

Osteopontin gene and clinical severity of multiple sclerosis

scientific article published on 01 August 2003

Peripheral nerve ultrasound in Friedreich ataxia

scientific article published on 11 November 2017

Peripheral nerve ultrasound in cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS).

scientific article published on 15 November 2016

Prevalence of muscular dystrophies: a systematic literature review

scientific article published on 16 December 2014

Refining the analysis of a whole genome linkage disequilibrium association map: the United Kingdom results

scientific article published in October 2003

Regarding the publication The Multiple Sclerosis Severity Score: Fluctuations and prognostic ability in a longitudinal cohort of patients with MS authored by RH Gross et al

scientific article published on 01 April 2020

Replication of association between ELAVL4 and Parkinson disease: the GenePD study

scientific article

Rhabdomyolysis in a glue sniffer.

scientific article

Spontaneous low-pressure headache complicating bag-piping.

scientific article

Striatal parvalbuminergic neurons are lost in Huntington's disease: implications for dystonia

scientific article published on 03 September 2013

The Appointment of a Huntington's Disease Nurse Specialist has Reduced Admission Rate and Improved Admission Quality

scientific article published in January 2012

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study

scientific article

The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients

scientific article published on 11 August 2017

The New Zealand Neuromuscular Disease Registry

scientific article published on 19 September 2012

The New Zealand Neuromuscular Disease Registry: rate of diagnoses confirmed by molecular testing.

scientific article published on 19 October 2014

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

scientific article published on 17 March 2015

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

scientific article published on 26 August 2013

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry

scientific article published on 27 December 2012

The unique co-occurrence of spinocerebellar ataxia type 10 (SCA10) and Huntington disease

scientific article published on 17 October 2012

Thrombo-embolic cerebral infarction secondary to giant Lambl's excrescence

scientific article published on 11 May 2013

Updated results of the United Kingdom linkage-based genome screen in multiple sclerosis

scientific article published in October 2003

Widespread heterogeneous neuronal loss across the cerebral cortex in Huntington's disease

scientific article published on January 2014

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