Detalhe da pesquisa
1.
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.
Hum Mol Genet
; 31(24): 4255-4274, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908287
2.
Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 95(5): 434-441, 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37918904
3.
Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.
Neurol Sci
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38622453
4.
Frequency, entity and determinants of fatigue in Charcot-Marie-Tooth disease.
Eur J Neurol
; 30(3): 710-718, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36458502
5.
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.
Eur J Neurol
; 30(8): 2461-2470, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37170966
6.
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.
J Neurol Neurosurg Psychiatry
; 93(12): 1253-1261, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36220341
7.
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.
Muscle Nerve
; 65(1): 96-104, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34687219
8.
Real-life experience with inotersen in hereditary transthyretin amyloidosis with late-onset phenotype: Data from an early-access program in Italy.
Eur J Neurol
; 29(7): 2148-2155, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35289020
9.
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Brain
; 144(5): 1542-1550, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33969391
10.
A case of anti-HMGCR myopathy triggered by sodium/glucose co-transporter 2 (SGLT2) inhibitors.
Neurol Sci
; 43(7): 4567-4570, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35391603
11.
Charcot-Marie-Tooth neuropathy score and ambulation index are both predictors of orthotic need for patients with CMT.
Neurol Sci
; 43(4): 2759-2764, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34613504
12.
Techniques for the standard histological and ultrastructural assessment of nerve biopsies.
J Peripher Nerv Syst
; 26 Suppl 2: S3-S10, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34768314
13.
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report.
Neurocase
; 27(6): 452-456, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34751098
14.
Neuromuscular complications following targeted therapy in cancer patients: beyond the immune checkpoint inhibitors. Case reports and review of the literature.
Neurol Sci
; 42(4): 1405-1409, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32783159
15.
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3.
J Neurol Neurosurg Psychiatry
; 91(11): 1166-1174, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32917822
16.
Validation of a new hand function outcome measure in individuals with Charcot-Marie-Tooth disease.
J Peripher Nerv Syst
; 25(4): 413-422, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33140522
17.
Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2.
J Peripher Nerv Syst
; 25(2): 102-106, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277537
18.
High-Dose Intravenous Immunoglobulin Is Effective in Painful Diabetic Polyneuropathy Resistant to Conventional Treatments. Results of a Double-Blind, Randomized, Placebo-Controlled, Multicenter Trial.
Pain Med
; 21(3): 576-585, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31904855
19.
Comparison of Strength and Dexterity in Professional and Student Violinists: Setting Foundations to Guide Rehabilitation.
Med Probl Perform Art
; 35(3): 130-137, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32870964
20.
Glycans of myelin proteins.
J Neurosci Res
; 93(1): 1-18, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25213400