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Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 9, p. 4563, doi. 10.1007/s10072-024-07494-9
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- Publication type:
- Article
A case of anti-HMGCR myopathy triggered by sodium/glucose co-transporter 2 (SGLT2) inhibitors.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 7, p. 4567, doi. 10.1007/s10072-022-06046-3
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- Publication type:
- Article
Charcot-Marie-Tooth neuropathy score and ambulation index are both predictors of orthotic need for patients with CMT.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 4, p. 2759, doi. 10.1007/s10072-021-05646-9
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- Publication type:
- Article
Neuromuscular complications following targeted therapy in cancer patients: beyond the immune checkpoint inhibitors. Case reports and review of the literature.
- Published in:
- 2021
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- Publication type:
- journal article
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.
- Published in:
- Neurological Sciences, 2011, v. 32, n. 4, p. 665, doi. 10.1007/s10072-010-0445-8
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- Publication type:
- Article
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.
- Published in:
- Neurological Sciences, 2010, v. 31, n. 3, p. 377, doi. 10.1007/s10072-010-0248-y
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- Publication type:
- Article
Nerve conduction velocity in CMT1A: what else can we tell?
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- European Journal of Neurology, 2016, v. 23, n. 10, p. 1566, doi. 10.1111/ene.13079
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- Publication type:
- Article
Efficacy and Safety of High-Dose Immunoglobulin-Based Regimen in Statin-Associated Autoimmune Myopathy: A Multi-Center and Multi-Disciplinary Retrospective Study.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3454, doi. 10.3390/jcm9113454
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- Publication type:
- Article
Comparing the Impact of COVID-19 on Vaccinated and Unvaccinated Patients Affected by Myasthenia Gravis.
- Published in:
- Life (2075-1729), 2023, v. 13, n. 4, p. 1064, doi. 10.3390/life13041064
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- Publication type:
- Article
Gap junction beta 1 ( GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 6, p. 529, doi. 10.1007/s10038-008-0280-4
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- Publication type:
- Article
Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2023.1298473
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- Publication type:
- Article
Case report: Episodic ataxia without ataxia?
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1224241
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- Publication type:
- Article
Six‐minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen.
- Published in:
- Muscle & Nerve, 2024, v. 70, n. 4, p. 816, doi. 10.1002/mus.28225
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- Publication type:
- Article
Glycans of Myelin Proteins.
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- Journal of Neuroscience Research, 2015, v. 93, n. 1, p. 1, doi. 10.1002/jnr.23462
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- Publication type:
- Article
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise".
- Published in:
- 2018
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- Publication type:
- Letter
Dysimmune mononeuropathies: A diagnosis not to be missed.
- Published in:
- 2016
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- Publication type:
- journal article
Insulin treatment enhances expression of IGF-I in sural nerves of diabetic patients.
- Published in:
- 2001
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- Publication type:
- journal article
PROPOSAL OF PHYSICAL EXERCISES FOR CHARCOT MARIE TOOTH DISEASE PATIENTS: A TAILORED APPROACH.
- Published in:
- Journal of Kinesiology & Exercise Sciences, 2023, v. 33, n. 104, p. 35, doi. 10.5604/01.3001.0053.9341
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- Publication type:
- Article
hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 780, doi. 10.3390/brainsci10110780
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- Publication type:
- Article
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1129, doi. 10.1038/ejhg.2009.37
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- Publication type:
- Article
Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 5, p. 1168, doi. 10.1093/brain/awh483
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- Publication type:
- Article
Phenotypic clustering in MPZ mutations.
- Published in:
- Brain: A Journal of Neurology, 2004, v. 127, n. 2, p. 371, doi. 10.1093/brain/awh048
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- Publication type:
- Article
Upper Limbs Muscle Co-Contraction Changes Correlate With The Physical Motor Impairments in CMT.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 815, doi. 10.3233/JND-240006
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- Publication type:
- Article
Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.964254
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- Publication type:
- Article
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.
- Published in:
- Acta Myologica, 2023, v. 42, n. 4, p. 113, doi. 10.36185/2532-1900-323
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- Publication type:
- Article
How to define and enhance diagnostic and assistance pathways in neuromuscular diseases during the COVID-19 pandemic: the concept of network.
- Published in:
- Acta Myologica, 2021, v. 40, n. 4, p. 172, doi. 10.36185/2532-1900-060
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- Publication type:
- Article
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.
- Published in:
- Acta Myologica, 2020, v. 39, n. 2, p. 57, doi. 10.36185-2532-1900-008
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- Publication type:
- Article
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy.
- Published in:
- 2021
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- Publication type:
- journal article
Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question!
- Published in:
- 2020
- By:
- Publication type:
- Letter
Gain of glycosylation: A new pathomechanism of myelin protein zero mutations.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 3, p. 427, doi. 10.1002/ana.22695
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- Publication type:
- Article
Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 11, p. 5561, doi. 10.1007/s00415-023-11911-y
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- Publication type:
- Article
Correction to: Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 1, p. 394, doi. 10.1007/s00415-022-11365-8
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- Publication type:
- Article
Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 4, p. 1905, doi. 10.1007/s00415-021-10754-9
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- Publication type:
- Article
High-dose immunoglobulin pulse therapy and risk of Covid19 infection.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 1, p. 189, doi. 10.1007/s00415-020-10127-8
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- Publication type:
- Article
novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4255, doi. 10.1093/hmg/ddac170
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- Publication type:
- Article
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017.
- Published in:
- Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01218
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- Publication type:
- Article
Very High Prevalence of Right-to-Left Shunt on Transcranial Doppler in an Italian Family with Cerebral Autosomal Dominant Angiopathy with Subcortical Infarcts and Leukoencephalopathy.
- Published in:
- European Neurology, 2001, v. 46, n. 4, p. 198, doi. 10.1159/000050804
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- Publication type:
- Article
Clinical spectrum and frequency of Charcot–Marie–Tooth disease in Italy: Data from the National CMT Registry.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 8, p. 2461, doi. 10.1111/ene.15860
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- Publication type:
- Article
Frequency, entity and determinants of fatigue in Charcot–Marie–Tooth disease.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 3, p. 710, doi. 10.1111/ene.15643
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- Publication type:
- Article
Real‐life experience with inotersen in hereditary transthyretin amyloidosis with late‐onset phenotype: Data from an early‐access program in Italy.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 7, p. 2148, doi. 10.1111/ene.15325
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- Publication type:
- Article
Treadmill training in patients affected by Charcot–Marie–Tooth neuropathy: results of a multicenter, prospective, randomized, single‐blind, controlled study.
- Published in:
- European Journal of Neurology, 2020, v. 27, n. 2, p. 280, doi. 10.1111/ene.14074
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- Publication type:
- Article
Parsonage-Turner syndrome following coronavirus disease 2019 immunization with ChAdOx1-S vaccine: a case report and review of the literature.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Severe Neuropathy After Diphtheria-Tetanus-Pertussis Vaccination in a Child Carrying a Novel Frame-Shift Mutation in the Small Heat-Shock Protein 27 Gene.
- Published in:
- Journal of Child Neurology, 2010, v. 25, n. 1, p. 107, doi. 10.1177/0883073809334387
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- Publication type:
- Article
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1877, doi. 10.1093/hmg/ddn083
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- Publication type:
- Article
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1 -Related Myopathies.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 298, doi. 10.3390/genes14020298
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- Publication type:
- Article
PMP22 transgenic dorsal root ganglia cultures show myelin abnormalities similar to those of human CMT1A.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Techniques for the standard histological and ultrastructural assessment of nerve biopsies.
- Published in:
- Journal of the Peripheral Nervous System, 2021, v. 26, p. S3, doi. 10.1111/jns.12468
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- Publication type:
- Article
Validation of a new hand function outcome measure in individuals with Charcot‐Marie‐Tooth disease.
- Published in:
- Journal of the Peripheral Nervous System, 2020, v. 25, n. 4, p. 413, doi. 10.1111/jns.12421
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- Publication type:
- Article