Found: 36
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PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-38
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- Publication type:
- Article
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
- Published in:
- 2014
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- Publication type:
- journal article
Diagnostic challenges in chronic inflammatory demyelinating polyradiculoneuropathy.
- Published in:
- 2020
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- Publication type:
- journal article
Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. e326, doi. 10.1093/brain/awu233
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- Publication type:
- Article
Early Prediction of Intensive Care Unit–Acquired Weakness: A Multicenter External Validation Study.
- Published in:
- Journal of Intensive Care Medicine, 2020, v. 35, n. 6, p. 595, doi. 10.1177/0885066618771001
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- Publication type:
- Article
Early Prediction of Intensive Care Unit–Acquired Weakness Using Easily Available Parameters: A Prospective Observational Study.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0111259
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- Publication type:
- Article
Assessment of intensive care unit-acquired weakness in young and old mice: An E. coli septic peritonitis model.
- Published in:
- 2016
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- Publication type:
- journal article
Comparison of CMT1A and CMT2: similarities and differences.
- Published in:
- Journal of Neurology, 2006, v. 253, n. 12, p. 1572, doi. 10.1007/s00415-006-0260-6
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- Publication type:
- Article
Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 12, p. 1491, doi. 10.1007/s00415-004-0578-x
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- Publication type:
- Article
Diffusion-prepared neurography of the brachial plexus with a large field-of-view at 3T.
- Published in:
- 2016
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- Publication type:
- journal article
Impact of ICU-acquired weakness on post-ICU physical functioning: a follow-up study.
- Published in:
- Critical Care, 2015, v. 19, n. 1, p. 1, doi. 10.1186/s13054-015-0937-2
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- Publication type:
- Article
Neurofilaments as a plasma biomarker for ICU-acquired weakness: an observational pilot study.
- Published in:
- 2014
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- Publication type:
- journal article
Neurofilaments as a plasma biomarker for ICU-acquired weakness: an observational pilot study.
- Published in:
- Critical Care, 2014, v. 18, n. 1, p. 1, doi. 10.1186/cc13699
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- Publication type:
- Article
Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A.
- Published in:
- 2024
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- Publication type:
- Correction Notice
Is gentamicin affecting the neuromuscular system of critically ill patients?
- Published in:
- 2015
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- Publication type:
- Letter
The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy.
- Published in:
- NeuroMolecular Medicine, 2015, v. 17, n. 2, p. 158, doi. 10.1007/s12017-015-8347-9
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- Publication type:
- Article
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.
- Published in:
- 2021
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- Publication type:
- journal article
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 3, p. 693, doi. 10.1093/brain/awt361
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- Publication type:
- Article
The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study.
- Published in:
- 2009
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- Publication type:
- journal article
The natural history of Charcot–Marie-Tooth type 1A in adults: a 5-year follow-up study.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 12, p. 3252, doi. 10.1093/brain/awp251
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- Publication type:
- Article
Ultrasound and MR muscle imaging in new onset idiopathic inflammatory myopathies at diagnosis and after treatment: a comparative pilot study.
- Published in:
- Rheumatology, 2023, v. 62, n. 1, p. 300, doi. 10.1093/rheumatology/keac263
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- Publication type:
- Article
Assessment of disability in idiopathic inflammatory myopathy: a call for linearity.
- Published in:
- Rheumatology, 2022, v. 61, n. 8, p. 3420, doi. 10.1093/rheumatology/keab906
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- Publication type:
- Article
Intravenous immunoglobulins as first-line treatment in idiopathic inflammatory myopathies: a pilot study.
- Published in:
- Rheumatology, 2021, v. 60, n. 4, p. 1784, doi. 10.1093/rheumatology/keaa459
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- Publication type:
- Article
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
- Published in:
- 2019
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- Publication type:
- journal article
Quantitative magnetic resonance imaging of the brachial plexus shows specific changes in nerve architecture in chronic inflammatory demyelinating polyneuropathy, multifocal motor neuropathy and motor neuron disease.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 8, p. 2716, doi. 10.1111/ene.14896
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- Publication type:
- Article
Prognostic value of nerve ultrasonography: A prospective multicenter study on the natural history of chronic inflammatory neuropathies.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 7, p. 2327, doi. 10.1111/ene.14885
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- Publication type:
- Article
Efficacy of a physical activity programme combining individualized aerobic exercise and coaching to improve physical fitness in neuromuscular diseases (I'M FINE): study protocol of a randomized controlled trial.
- Published in:
- 2020
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- Publication type:
- journal article
Electrodiagnostic subtyping in Guillain‐Barré syndrome: Use of criteria in practice based on a survey study in IGOS.
- Published in:
- Journal of the Peripheral Nervous System, 2022, v. 27, n. 3, p. 197, doi. 10.1111/jns.12504
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- Publication type:
- Article
Diagnosis and treatment response in the asymmetric variant of chronic inflammatory demyelinating polyneuropathy.
- Published in:
- Journal of the Peripheral Nervous System, 2019, v. 24, n. 2, p. 174, doi. 10.1111/jns.12325
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- Publication type:
- Article
Serum neurofilament light chain in chronic inflammatory demyelinating polyneuropathy.
- Published in:
- Journal of the Peripheral Nervous System, 2019, v. 24, n. 2, p. 187, doi. 10.1111/jns.12319
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- Publication type:
- Article
Elevated leukocyte count in cerebrospinal fluid of patients with chronic inflammatory demyelinating polyneuropathy.
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- Journal of the Peripheral Nervous System, 2018, v. 23, n. 1, p. 49, doi. 10.1111/jns.12250
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- Publication type:
- Article
Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations.
- Published in:
- Journal of the Peripheral Nervous System, 2017, v. 22, n. 4, p. 464, doi. 10.1111/jns.12236
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- Publication type:
- Article
The phenotype of the Gly94fsX222 PMP22 insertion.
- Published in:
- Journal of the Peripheral Nervous System, 2011, v. 16, n. 2, p. 113, doi. 10.1111/j.1529-8027.2011.00333.x
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- Publication type:
- Article
Diagnostic accuracy of quantitative neuromuscular ultrasound for the diagnosis of intensive care unit-acquired weakness: a cross-sectional observational study.
- Published in:
- Annals of Intensive Care, 2017, v. 7, n. 1, p. 1, doi. 10.1186/s13613-017-0263-8
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- Publication type:
- Article
Challenges in the Early Diagnosis and Treatment of Chronic Inflammatory Demyelinating Polyradiculoneuropathy in Adults: Current Perspectives.
- Published in:
- Therapeutics & Clinical Risk Management, 2024, v. 20, p. 111, doi. 10.2147/TCRM.S360249
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- Publication type:
- Article
Diffusion tensor MRI of the healthy brachial plexus.
- Published in:
- PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0196975
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- Publication type:
- Article