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Skin innervation across amyotrophic lateral sclerosis clinical stages: new prognostic biomarkers.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1740, doi. 10.1093/brain/awad426
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- Publication type:
- Article
Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy.
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- Neurological Sciences, 2024, v. 45, n. 4, p. 1685, doi. 10.1007/s10072-023-07140-w
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- Publication type:
- Article
Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis?
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- European Journal of Neurology, 2024, v. 31, n. 1, p. 1, doi. 10.1111/ene.16070
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- Publication type:
- Article
White matter abnormalities in 15 subjects with SPG76.
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- Journal of Neurology, 2023, v. 270, n. 12, p. 5784, doi. 10.1007/s00415-023-11918-5
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- Publication type:
- Article
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
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- Journal of the Peripheral Nervous System, 2023, v. 28, n. 4, p. 620, doi. 10.1111/jns.12602
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- Publication type:
- Article
Multiple cranial neuropathy due to varicella zoster virus reactivation without vesicular rash: a challenging diagnosis.
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- Neurological Sciences, 2023, v. 44, n. 10, p. 3687, doi. 10.1007/s10072-023-06833-6
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- Publication type:
- Article
The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene.
- Published in:
- 2023
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- Publication type:
- Letter
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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- Article
Pregnancy experience in women with spinal muscular atrophy: a case series.
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- Acta Myologica, 2023, v. 42, n. 2/3, p. 60, doi. 10.36185/2532-1900-316
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- Publication type:
- Article
Machine Learning for Early Diagnosis of ATTRv Amyloidosis in Non-Endemic Areas: A Multicenter Study from Italy.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 5, p. 805, doi. 10.3390/brainsci13050805
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- Publication type:
- Article
A case of severe increase of liver enzymes in a ATTRv patient after one year of inotersen treatment.
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- Neurological Sciences, 2023, v. 44, n. 4, p. 1419, doi. 10.1007/s10072-022-06568-w
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- Publication type:
- Article
Frequency, entity and determinants of fatigue in Charcot–Marie–Tooth disease.
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- European Journal of Neurology, 2023, v. 30, n. 3, p. 710, doi. 10.1111/ene.15643
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- Publication type:
- Article
Neuropathic pain experience in symptomatic and presymptomatic subjects carrying a transthyretin gene mutation.
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- Frontiers in Neurology, 2023, v. 14, p. 01, doi. 10.3389/fneur.2023.1109782
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- Publication type:
- Article
Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy.
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- European Journal of Neurology, 2023, v. 30, n. 2, p. 511, doi. 10.1111/ene.15601
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- Publication type:
- Article
25-Hydroxy-Vitamin D and Risk of Recurrent Stroke: A Dose Response Meta-Analysis.
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- Nutrients, 2023, v. 15, n. 3, p. 512, doi. 10.3390/nu15030512
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- Publication type:
- Article
Value of Antibody Determinations in Chronic Dysimmune Neuropathies.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 1, p. 37, doi. 10.3390/brainsci13010037
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- Publication type:
- Article
Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry.
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- Journal of Neurology, 2023, v. 270, n. 1, p. 394, doi. 10.1007/s00415-022-11365-8
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- Publication type:
- Article
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
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- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 7, p. 1, doi. 10.1111/nan.12842
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- Publication type:
- Article
Quantitative Sensory Testing in Late-Onset ATTRv Presymptomatic Subjects: A Single Center Experience.
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- Biomedicines, 2022, v. 10, n. 11, p. 2877, doi. 10.3390/biomedicines10112877
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- Publication type:
- Article
Adherence and Reactogenicity to Vaccines against SARS-COV-2 in 285 Patients with Neuropathy: A Multicentric Study.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 10, p. 1396, doi. 10.3390/brainsci12101396
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- Publication type:
- Article
A compound score to screen patients with hereditary transthyretin amyloidosis.
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- Journal of Neurology, 2022, v. 269, n. 8, p. 4281, doi. 10.1007/s00415-022-11056-4
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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.
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- European Journal of Neurology, 2022, v. 29, n. 7, p. 2148, doi. 10.1111/ene.15325
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- Publication type:
- Article
Telemedicine application to headache: a critical review.
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- Neurological Sciences, 2022, v. 43, n. 6, p. 3795, doi. 10.1007/s10072-022-05910-6
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- Publication type:
- Article
Can we identify hereditary TTR amyloidosis by the screening of carpal tunnel syndrome patients?
- Published in:
- 2022
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- Publication type:
- journal article
The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 1, p. 559, doi. 10.1007/s10072-021-05254-7
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- Publication type:
- Article
How to manage with telemedicine people with neuromuscular diseases?
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- Neurological Sciences, 2021, v. 42, n. 9, p. 3553, doi. 10.1007/s10072-021-05396-8
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- Publication type:
- Article
Correction to: How to manage with telemedicine people with neuromuscular diseases?
- Published in:
- 2021
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- Publication type:
- corrected article
The neuropathy in hereditary transthyretin amyloidosis: A narrative review.
- Published in:
- Journal of the Peripheral Nervous System, 2021, v. 26, n. 2, p. 155, doi. 10.1111/jns.12451
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- Publication type:
- Article
Proximal weakness involvement in the first Italian case of Charcot‐Marie‐Tooth 2CC harboring a novel frameshift variant in NEFH.
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- Journal of the Peripheral Nervous System, 2021, v. 26, n. 2, p. 231, doi. 10.1111/jns.12454
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- Publication type:
- Article
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
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- 2021
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- Publication type:
- journal 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
Primary Progressive Multiple Sclerosis Under Anti-TNFα Treatment: A Case Report.
- Published in:
- Journal of Central Nervous System Disease, 2020, p. 1, doi. 10.1177/1179573520973820
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- Publication type:
- Article
Contribution of Skin Biopsy in Peripheral Neuropathies.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 12, p. 989, doi. 10.3390/brainsci10120989
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- Publication type:
- Article
Electrodiagnostic accuracy in polyneuropathies: supervised learning algorithms as a tool for practitioners.
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- Neurological Sciences, 2020, v. 41, n. 12, p. 3719, doi. 10.1007/s10072-020-04499-y
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- Publication type:
- Article
hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 780, doi. 10.3390/brainsci10110780
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- Publication type:
- Article
Brain Plasticity in Charcot-Marie-Tooth Type 1A Patients? A Combined Structural and Diffusion MRI Study.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.00795
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- Publication type:
- Article
Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 8, p. 506, doi. 10.3390/brainsci10080506
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- Publication type:
- Article
Microstructural Changes in Motor Functional Conversion Disorder: Multimodal Imaging Approach on a Case.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 6, p. 385, doi. 10.3390/brainsci10060385
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- Publication type:
- Article
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
- Published in:
- 2020
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- Publication type:
- journal article
Primary Progressive Multiple Sclerosis Under Anti-TNFα Treatment: A Case Report.
- Published in:
- Journal of Central Nervous System Disease, 2020, p. 1, doi. 10.1177/1179573520973820
- By:
- Publication type:
- Article
Insights into the pathogenesis of ATP1A1‐related CMT disease using patient‐specific iPSCs.
- Published in:
- Journal of the Peripheral Nervous System, 2019, v. 24, n. 4, p. 330, doi. 10.1111/jns.12357
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- Publication type:
- Article
Pseudo-orthostatic tremor: description of a not typical case.
- Published in:
- 2019
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- Publication type:
- case study
A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00580
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- Publication type:
- Article
A novel family with axonal Charcot‐Marie‐Tooth disease caused by a mutation in the EGR2 gene.
- Published in:
- Journal of the Peripheral Nervous System, 2019, v. 24, n. 2, p. 219, doi. 10.1111/jns.12314
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- Publication type:
- Article
Six-minute walk test is reliable and sensitive in detecting response to therapy in CIDP.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 4, p. 860, doi. 10.1007/s00415-019-09207-1
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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
Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report.
- Published in:
- 2018
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- Publication type:
- journal article
One-year follow up of three Italian patients with Duchenne muscular dystrophy treated with ataluren: is earlier better?
- Published in:
- Therapeutic Advances in Neurological Disorders, 2018, v. 11, p. 1, doi. 10.1177/1756286418809588
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- Publication type:
- Article
Early predictive factors of disability in CIDP.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 9, p. 1939, doi. 10.1007/s00415-017-8578-9
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- Publication type:
- Article
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
- Published in:
- Journal of the Peripheral Nervous System, 2014, v. 19, n. 4, p. 292, doi. 10.1111/jns.12092
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- Publication type:
- Article