Found: 133
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Development of an initial training and evaluation programme for manual lower limb muscle MRI segmentation.
- Published in:
- European Radiology Experimental, 2024, v. 8, n. 1, p. 1, doi. 10.1186/s41747-024-00475-9
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- Publication type:
- Article
Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 10, p. 1298, doi. 10.1002/mdc3.14178
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- Publication type:
- Article
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01043-z
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- Publication type:
- Article
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00456
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- Publication type:
- Article
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 9, p. 3144, doi. 10.1093/brain/awae064
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- Publication type:
- Article
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4025, doi. 10.1093/brain/awad203
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- Publication type:
- Article
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3826, doi. 10.1093/brain/awad095
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- Publication type:
- Article
Motor neuron pathology in CANVAS due to RFC1 expansions.
- Published in:
- 2022
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- Publication type:
- journal article
Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
- Published in:
- 2021
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- Publication type:
- journal article
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
- Published in:
- 2021
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- Publication type:
- journal article
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
- Published in:
- 2020
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- Publication type:
- journal article
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
- Published in:
- 2020
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- Publication type:
- Letter
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
- Published in:
- 2020
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- Publication type:
- journal article
Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.
- Published in:
- 2019
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- Publication type:
- journal article
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
- Published in:
- 2018
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- Publication type:
- journal article
Clinical and genetic characterization of leukoencephalopathies in adults.
- Published in:
- 2017
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- Publication type:
- journal article
Early detection of nerve injury in transthyretin-related familial amyloid polyneuropathy.
- Published in:
- 2015
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- Publication type:
- journal article
Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. 3200, doi. 10.1093/brain/awu279
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- Publication type:
- Article
The Babinski sign.
- Published in:
- 2011
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- Publication type:
- Journal Article
The Babinski sign.
- Published in:
- British Journal of Hospital Medicine (17508460), 2011, v. 72, n. 10, p. M157, doi. 10.12968/hmed.2011.72.Sup10.M157
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- Publication type:
- Article
Association of common genetic variants with chronic axonal polyneuropathy in the general population: a genome-wide association study.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1422824
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- Publication type:
- Article
Home‐based multi‐sensory and proximal strengthening program to improve balance in Charcot–Marie–Tooth disease Type 1A: A proof of concept study.
- Published in:
- Muscle & Nerve, 2024, v. 69, n. 3, p. 354, doi. 10.1002/mus.28032
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- Publication type:
- Article
Evidence of nerve hypertrophy in patients with inclusion body myositis on lower limb MRI.
- Published in:
- Muscle & Nerve, 2022, v. 66, n. 6, p. 744, doi. 10.1002/mus.27728
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- Publication type:
- Article
Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.930435
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- Publication type:
- Article
Cardiopulmonary exercise performance and factors associated with aerobic capacity in neuromuscular diseases.
- Published in:
- 2021
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- Publication type:
- journal article
Peripheral nerve neurolymphomatosis: Clinical features, treatment, and outcomes.
- Published in:
- Muscle & Nerve, 2020, v. 62, n. 5, p. 617, doi. 10.1002/mus.27045
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- Publication type:
- Article
Balance impairment in pediatric charcot-marie-tooth disease.
- Published in:
- 2019
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- Publication type:
- journal article
Carpal tunnel syndrome in inherited neuropathies: A retrospective survey.
- Published in:
- 2018
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- Publication type:
- journal article
Plasma neurofilament heavy chain is not a useful biomarker in Charcot-Marie-Tooth disease.
- Published in:
- 2016
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- Publication type:
- journal article
PAIN AND SMALL FIBER FUNCTION IN CHARCOT-MARIE-TOOTH DISEASE TYPE 1A.
- Published in:
- Muscle & Nerve, 2014, v. 50, p. 366, doi. 10.1002/mus.24169
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- Publication type:
- Article
Pain and small fiber function in charcot-marie-tooth disease type 1A.
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- Muscle & Nerve, 2014, v. 50, n. 3, p. 366, doi. 10.1002/mus.24169
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- Publication type:
- Article
Serial cerebrospinal fluid neurofilament heavy chain levels in severe Guillain-Barré syndrome.
- Published in:
- 2013
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- Publication type:
- journal article
Asymmetric sensory ganglionopathy: A case series.
- Published in:
- Muscle & Nerve, 2013, v. 48, n. 1, p. 145, doi. 10.1002/mus.23772
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- Publication type:
- Article
Serial cerebrospinal fluid neurofilament heavy chain levels in severe Guillain-Barré syndrome.
- Published in:
- Muscle & Nerve, 2013, v. 48, n. 1, p. 132, doi. 10.1002/mus.23752
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- Publication type:
- Article
Foot drop splints improve proximal as well as distal leg control during gait in Charcot-Marie-Tooth Disease.
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- Muscle & Nerve, 2012, v. 46, n. 4, p. 512, doi. 10.1002/mus.23348
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- Publication type:
- Article
Sarcoidosis presenting as acute inflammatory demyelinating polyradiculoneuropathy.
- Published in:
- Muscle & Nerve, 2011, v. 43, n. 2, p. 296, doi. 10.1002/mus.21890
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- Publication type:
- Article
Hip flexor fatigue limits walking in Charcot-Marie-Tooth disease.
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- Muscle & Nerve, 2009, v. 40, n. 1, p. 103, doi. 10.1002/mus.21264
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- Publication type:
- Article
Mutation of the sterol 27-hydroxylase gene (CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis.
- Published in:
- 2002
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- Publication type:
- Letter
Stability and sensitivity of water T<sub>2</sub> obtained with IDEAL-CPMG in healthy and fat-infiltrated skeletal muscle.
- Published in:
- NMR in Biomedicine, 2016, v. 29, n. 12, p. 1800, doi. 10.1002/nbm.3654
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- Publication type:
- Article
Improved anatomical reproducibility in quantitative lower-limb muscle MRI.
- Published in:
- Journal of Magnetic Resonance Imaging, 2014, v. 39, n. 4, p. 1033, doi. 10.1002/jmri.24220
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- Publication type:
- Article
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1313, doi. 10.1007/s00439-019-02075-9
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- Publication type:
- Article
Cardiovascular autonomic failure in hereditary transthyretin amyloidosis and TTR carriers is an early and progressive disease marker.
- Published in:
- Clinical Autonomic Research, 2024, v. 34, n. 3, p. 341, doi. 10.1007/s10286-024-01038-z
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- Publication type:
- Article
Incidence and risk factors for patellofemoral dislocation in adults with Charcot‐Marie‐Tooth disease: An observational study.
- Published in:
- Physiotherapy Research International, 2023, v. 28, n. 3, p. 1, doi. 10.1002/pri.1996
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- Publication type:
- Article
Frequency and circumstances of falls for people with Charcot–Marie–Tooth disease: A cross sectional survey.
- Published in:
- Physiotherapy Research International, 2018, v. 23, n. 2, p. 1, doi. 10.1002/pri.1702
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- Publication type:
- Article
Comparing Gait Performance of People with Charcot-Marie-Tooth Disease Who Do and Do Not Wear Ankle Foot Orthoses.
- Published in:
- Physiotherapy Research International, 2012, v. 17, n. 4, p. 191, doi. 10.1002/pri.531
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- Publication type:
- Article
Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00909-6
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- Publication type:
- Article
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 10, p. 1546, doi. 10.3390/biom13101546
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- Publication type:
- Article
Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project.
- Published in:
- Medizinische Genetik, 2020, p. 227, doi. 10.1515/medgen-2020-2037
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- Publication type:
- Article
Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project.
- Published in:
- Medizinische Genetik, 2020, p. 227, doi. 10.1515/medgen-2020-2037
- By:
- Publication type:
- Article
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 6, p. 645, doi. 10.1001/jamaneurol.2016.0171
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- Publication type:
- Article