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Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies.
- Published in:
- Brain Communications, 2024, v. 6, n. 4, p. 1, doi. 10.1093/braincomms/fcae163
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- Publication type:
- Article
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 9, p. 3144, doi. 10.1093/brain/awae064
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- Publication type:
- Article
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
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A.
- Published in:
- Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 202, doi. 10.1111/jns.12621
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- Publication type:
- Article
Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
- Published in:
- Journal of the Peripheral Nervous System, 2024, v. 29, n. 1, p. 111, doi. 10.1111/jns.12611
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- Publication type:
- Article
Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families.
- Published in:
- Journal of the Peripheral Nervous System, 2023, v. 28, n. 4, p. 614, doi. 10.1111/jns.12601
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- Publication type:
- Article
Recruiting for an International Rare Disease Clinical Trial Readiness Study during the COVID‐19 pandemic: Challenges and solutions.
- Published in:
- 2023
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- Publication type:
- Letter to the Editor
Validation of the parent‐proxy version of the pediatric Charcot‐Marie‐Tooth disease quality of life instrument for children aged 0–7 years.
- Published in:
- Journal of the Peripheral Nervous System, 2023, v. 28, n. 3, p. 382, doi. 10.1111/jns.12557
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- Publication type:
- Article
Validation of the parent‐proxy pediatric Charcot‐Marie‐Tooth disease quality of life outcome measure.
- Published in:
- Journal of the Peripheral Nervous System, 2023, v. 28, n. 2, p. 237, doi. 10.1111/jns.12538
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- Publication type:
- Article
Conduction block and temporal dispersion in a SIGMAR1‐related neuropathy.
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- Journal of the Peripheral Nervous System, 2022, v. 27, n. 4, p. 316, doi. 10.1111/jns.12517
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- Publication type:
- Article
Severe distinct dysautonomia in RFC1‐related disease associated with Parkinsonism.
- Published in:
- Journal of the Peripheral Nervous System, 2022, v. 27, n. 4, p. 311, doi. 10.1111/jns.12515
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- Publication type:
- Article
Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 ‐ implications for retinal screening in HSN1.
- Published in:
- Journal of the Peripheral Nervous System, 2022, v. 27, n. 3, p. 215, doi. 10.1111/jns.12508
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- Publication type:
- Article
Unusual upper limb features in SORD neuropathy.
- Published in:
- 2022
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- Publication type:
- Letter to the Editor
A longitudinal and cross‐sectional study of plasma neurofilament light chain concentration in Charcot‐Marie‐Tooth disease.
- Published in:
- Journal of the Peripheral Nervous System, 2022, v. 27, n. 1, p. 50, doi. 10.1111/jns.12477
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- Publication type:
- Article
A prospective study on surgical management of foot deformities in Charcot Marie tooth disease.
- Published in:
- Journal of the Peripheral Nervous System, 2021, v. 26, n. 2, p. 187, doi. 10.1111/jns.12437
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- Publication type:
- Article
Reliability of the Charcot‐Marie‐Tooth functional outcome measure.
- Published in:
- Journal of the Peripheral Nervous System, 2020, v. 25, n. 3, p. 288, doi. 10.1111/jns.12406
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- Publication type:
- Article
A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early‐onset Charcot‐Marie‐Tooth disease with predominant severe sensory ataxia.
- Published in:
- Journal of the Peripheral Nervous System, 2020, v. 25, n. 3, p. 303, doi. 10.1111/jns.12386
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- Publication type:
- Article
KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
- Published in:
- Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 117, doi. 10.1111/jns.12368
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- Publication type:
- Article
Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis.
- Published in:
- Journal of the Peripheral Nervous System, 2019, v. 24, n. 4, p. 314, doi. 10.1111/jns.12350
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- Publication type:
- Article
Severe cognitive impairment in a patient with CMT2A.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
- Published in:
- Journal of the Peripheral Nervous System, 2017, v. 22, n. 4, p. 460, doi. 10.1111/jns.12235
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- Publication type:
- Article
A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease.
- Published in:
- Journal of the Peripheral Nervous System, 2017, v. 22, n. 3, p. 224, doi. 10.1111/jns.12222
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- Publication type:
- Article
A proposed dosing algorithm for the individualized dosing of human immunoglobulin in chronic inflammatory neuropathies.
- Published in:
- Journal of the Peripheral Nervous System, 2016, v. 21, n. 1, p. 33, doi. 10.1111/jns.12158
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- Publication type:
- Article
Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling.
- Published in:
- Journal of the Peripheral Nervous System, 2016, v. 21, n. 1, p. 52, doi. 10.1111/jns.12155
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- Publication type:
- Article
MFN2 deletion of exons 7 and 8: founder mutation in the UK population.
- Published in:
- Journal of the Peripheral Nervous System, 2015, v. 20, n. 2, p. 67, doi. 10.1111/jns.12117
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- Publication type:
- Article
A pilot study of proximal strength training in Charcot-Marie-Tooth disease.
- Published in:
- Journal of the Peripheral Nervous System, 2014, v. 19, n. 4, p. 328, doi. 10.1111/jns.12100
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- Publication type:
- Article
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 4, p. 1028, doi. 10.3390/cells9041028
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- Publication type:
- Article
Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin.
- Published in:
- FASEB Journal, 2019, v. 33, n. 7, p. 8504, doi. 10.1096/fj.201802635R
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- Publication type:
- Article
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
Haplotype-specific modulation of a SOX10/CREB response element at the Charcot–Marie–Tooth disease type 4C locus SH3TC2.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 19, p. 5171, doi. 10.1093/hmg/ddu240
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- Publication type:
- Article
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot–Marie–Tooth disease type 4C.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 6, p. 1009, doi. 10.1093/hmg/ddp565
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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
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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.
- Published in:
- 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
- By:
- 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
- By:
- Publication type:
- journal 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
SARS1 (SerRS) Causing De Novo Dominant Charcot–Marie–Tooth Disease with Slow Conduction.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 6, p. 1187, doi. 10.1002/ana.26792
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- Publication type:
- Article
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.
- Published in:
- Annals of Neurology, 2023, v. 93, n. 5, p. 906, doi. 10.1002/ana.26633
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- Publication type:
- Article
Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 2, p. 369, doi. 10.1002/ana.25966
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- Publication type:
- Article