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Small nerves are a distinguishing feature of spinal and bulbar muscular atrophy (SBMA).
- Published in:
- 2022
- By:
- Publication type:
- Letter
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1887, doi. 10.1093/brain/awad436
- By:
- Publication type:
- Article
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
- Published in:
- 2020
- By:
- Publication type:
- journal article
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.
- Published in:
- 2020
- By:
- Publication type:
- Letter
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.
- Published in:
- 2020
- By:
- Publication type:
- Letter
A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders.
- Published in:
- Neuroepidemiology, 2019, v. 52, n. 3/4, p. 128, doi. 10.1159/000494115
- By:
- Publication type:
- Article
Quantitative muscle ultrasound in adult spinal muscular atrophy. A pilot study.
- Published in:
- Muscle & Nerve, 2024, v. 69, n. 3, p. 349, doi. 10.1002/mus.28034
- By:
- Publication type:
- Article
Ultrasound of peripheral nerves distinguishes inherited sensory neuronopathy of cerebellar ataxia with neuropathy and vestibular areflexia syndrome from inherited axonopathy.
- Published in:
- Muscle & Nerve, 2023, v. 67, n. 1, p. 33, doi. 10.1002/mus.27751
- By:
- Publication type:
- Article
Apathy and Impulsivity Co‐Occur in Huntington's Disease.
- Published in:
- Brain & Behavior, 2024, v. 14, n. 10, p. 1, doi. 10.1002/brb3.70061
- By:
- Publication type:
- Article
Redefining the Multiple Sclerosis Severity Score (MSSS): The effect of sex and onset phenotype.
- Published in:
- Multiple Sclerosis Journal, 2020, v. 26, n. 13, p. 1765, doi. 10.1177/1352458519881994
- By:
- Publication type:
- Article
An investigation of the relationship between latitude and multiple sclerosis severity in New Zealand.
- Published in:
- Multiple Sclerosis Journal, 2016, v. 22, n. 5, p. 705, doi. 10.1177/1352458515605909
- By:
- Publication type:
- Article
Nerve ultrasound detects abnormally small nerves in patients with spinal and bulbar muscular atrophy.
- Published in:
- Muscle & Nerve, 2022, v. 65, n. 5, p. 599, doi. 10.1002/mus.27509
- By:
- Publication type:
- Article
Spinocerebellar ataxia type 2-neuronopathy or neuropathy?
- Published in:
- 2019
- By:
- Publication type:
- journal article
Peripheral nerve ultrasound in Friedreich ataxia.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Peripheral nerve ultrasound in cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS).
- Published in:
- 2017
- By:
- Publication type:
- journal article
Andersen-Tawil syndrome presenting as a fixed myopathy.
- Published in:
- Muscle & Nerve, 2013, v. 48, n. 4, p. 623, doi. 10.1002/mus.23872
- By:
- Publication type:
- Article
Nitrous oxide myelopathy: a case series.
- Published in:
- New Zealand Medical Journal, 2024, v. 137, n. 1599, p. 49, doi. 10.26635/6965.6477
- By:
- Publication type:
- Article
Mitochondrial disease in New Zealand: a nationwide prevalence study.
- Published in:
- Internal Medicine Journal, 2024, v. 54, n. 3, p. 388, doi. 10.1111/imj.16211
- By:
- Publication type:
- Article
Successful cerebral intravascular thrombectomy stops the heart stopping.
- Published in:
- Internal Medicine Journal, 2022, v. 52, n. 8, p. 1419, doi. 10.1111/imj.15871
- By:
- Publication type:
- Article
Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia ‘CANVAS’ syndrome.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 10, p. 2649, doi. 10.1093/brain/awu196
- By:
- Publication type:
- Article
Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
A whole genome screen for linkage disequilibrium in multiple sclerosis confirms disease associations with regions previously linked to susceptibility.
- Published in:
- Brain: A Journal of Neurology, 2002, v. 125, n. 6, p. 1337, doi. 10.1093/brain/awf143
- By:
- Publication type:
- Article
Coping in Children and Adolescents with a Genetic Muscle Disorder - Findings from a Population-Based Study.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 6, p. 1069, doi. 10.3233/JND-200564
- By:
- Publication type:
- Article
Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 6, p. 1239, doi. 10.1002/acn3.51352
- By:
- Publication type:
- Article
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci.
- Published in:
- Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-022-02826-4
- By:
- Publication type:
- Article
Globus pallidus degeneration and clinicopathological features of Huntington disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Cortical interneuron loss and symptom heterogeneity in Huntington disease.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 5, p. 717, doi. 10.1002/ana.24162
- By:
- Publication type:
- Article
Hyperactive vestibular and visually enhanced vestibulo-ocular reflexes in autosomal recessive cerebellar ataxia type 3: a case report.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 2, p. 1154, doi. 10.1007/s00415-022-11422-2
- By:
- Publication type:
- Article
The neuro-otology of Susac syndrome.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 12, p. 3711, doi. 10.1007/s00415-020-10086-0
- By:
- Publication type:
- Article
Ophthalmic findings in myotonic dystrophy type 2: a case series.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Optical coherence tomography findings in Huntington's disease: a potential biomarker of disease progression.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 11, p. 2457, doi. 10.1007/s00415-015-7869-2
- By:
- Publication type:
- Article
Epiretinal membrane: a treatable cause of visual disability in myotonic dystrophy type 1.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 1, p. 37, doi. 10.1007/s00415-013-7141-6
- By:
- Publication type:
- Article
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 5, p. 1286, doi. 10.1007/s00415-012-6792-z
- By:
- Publication type:
- Article
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
- Published in:
- Brain Communications, 2023, v. 5, n. 4, p. 1, doi. 10.1093/braincomms/fcad208
- By:
- Publication type:
- Article
Diagnosis, differential diagnosis and misdiagnosis of Susac syndrome.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 6, p. 1771, doi. 10.1111/ene.15317
- By:
- Publication type:
- Article
Potential PINK1 Founder Effect in Polynesia Causing Early‐Onset Parkinson's Disease.
- Published in:
- Movement Disorders, 2021, v. 36, n. 9, p. 2199, doi. 10.1002/mds.28665
- By:
- Publication type:
- Article
Knowledge of Sub-Types Important to Understanding of the Prevalence of Myotonic Dystrophy.
- Published in:
- Neuroepidemiology, 2016, v. 46, n. 3, p. 228, doi. 10.1159/000444469
- By:
- Publication type:
- Article
Prevalence of Muscular Dystrophies: A Systematic Literature Review.
- Published in:
- Neuroepidemiology, 2015, v. 43, n. 3/4, p. 259, doi. 10.1159/000369343
- By:
- Publication type:
- Article
Incapacity Benefit/Employment and Support Allowance migration pilots.
- Published in:
- Journal of Poverty & Social Justice, 2011, v. 19, n. 2, p. 181, doi. 10.1332/175982711X574058
- By:
- Publication type:
- Article
Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study.
- Published in:
- Quality of Life Research, 2022, v. 31, n. 6, p. 1657, doi. 10.1007/s11136-021-03046-2
- By:
- Publication type:
- Article
Striatal parvalbuminergic neurons are lost in Huntington's disease: implications for dystonia.
- Published in:
- Movement Disorders, 2013, v. 28, n. 12, p. 1691, doi. 10.1002/mds.25624
- By:
- Publication type:
- Article
A retrospective study of the impact of lifestyle on age at onset of Huntington disease.
- Published in:
- Movement Disorders, 2010, v. 25, n. 10, p. 1444, doi. 10.1002/mds.23108
- By:
- Publication type:
- Article
Spontaneous Low-Pressure Headache Complicating Bagpiping.
- Published in:
- Headache: The Journal of Head & Face Pain, 2007, v. 47, n. 4, p. 611, doi. 10.1111/j.1526-4610.2007.00763_1.x
- By:
- Publication type:
- Article