Detalhe da pesquisa
1.
Hospital admissions from the emergency department of adult patients affected by myopathies.
Eur J Neurol
; 31(5): e16214, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38226549
2.
Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset.
Neurol Sci
; 45(4): 1675-1684, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37938457
3.
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.
Hum Mol Genet
; 30(1): 65-71, 2021 03 25.
Artigo
Inglês
| MEDLINE | ID: mdl-33445179
4.
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.
Eur J Neurol
; 30(5): 1246-1255, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36732882
5.
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
Inglês
| MEDLINE | ID: mdl-35289020
6.
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.
Brain
; 144(9): 2798-2811, 2021 10 22.
Artigo
Inglês
| MEDLINE | ID: mdl-34687211
7.
Neurofilament light chain as a disease severity biomarker in ATTRv: data from a single-centre experience.
Neurol Sci
; 43(4): 2845-2848, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-35094171
8.
Skin biopsy and quantitative sensory assessment in an Italian cohort of ATTRv patients with polyneuropathy and asymptomatic carriers: possible evidence of early non-length dependent denervation.
Neurol Sci
; 43(2): 1359-1364, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-34189665
9.
Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis.
J Neuroinflammation
; 18(1): 132, 2021 Jun 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34118929
10.
Ultrasound assisted lumbar intrathecal administration of nusinersen in adult patients with spinal muscular atrophy: A case series.
Muscle Nerve
; 64(5): 594-599, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34396547
11.
Reassessing IVIg therapy in chronic inflammatory demyelinating polyradiculoneuropathy during COVID-19: a chance to verify the need for chronic maintenance therapy.
Neurol Sci
; 42(3): 787-789, 2021 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-33428052
12.
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Ann Neurol
; 86(1): 55-67, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31070812
13.
RELEVANCE OF DIAGNOSTIC INVESTIGATIONS IN CHRONIC INFLAMMATORY DEMYELINATING POLIRADICULONEUROPATHY: DATA FROM THE ITALIAN CIDP DATABASE.
J Peripher Nerv Syst
; 2020 04 28.
Artigo
Inglês
| MEDLINE | ID: mdl-32343015
14.
Sural nerve biopsy in peripheral neuropathies: 30-year experience from a single center.
Neurol Sci
; 41(2): 341-346, 2020 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-31650437
15.
Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database.
J Neurol Neurosurg Psychiatry
; 90(2): 125-132, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30297520
16.
Elevated Levels of Selenium Species in Cerebrospinal Fluid of Amyotrophic Lateral Sclerosis Patients with Disease-Associated Gene Mutations.
Neurodegener Dis
; 17(4-5): 171-180, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28478440
17.
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis.
Hum Mol Genet
; 22(23): 4748-55, 2013 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23847048
18.
Frequency and time to relapse after discontinuing 6-month therapy with IVIg or pulsed methylprednisolone in CIDP.
J Neurol Neurosurg Psychiatry
; 86(7): 729-34, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25246645
19.
Clinical features and outcomes of the flail arm and flail leg and pure lower motor neuron MND variants: a multicentre Italian study.
J Neurol Neurosurg Psychiatry
; 91(9): 1001-1003, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32651246
20.
Neuromyelitis optica spectrum disorder as a paraneoplastic manifestation of lung adenocarcinoma expressing aquaporin-4.
Mult Scler
; 21(6): 791-4, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25716881