Detalhe da pesquisa
1.
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
Clin Genet
; 105(3): 335-339, 2024 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38041579
2.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ann Neurol
; 94(6): 1126-1135, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37695206
3.
Neurogenic orthostatic hypotension in Parkinson's disease: is there a role for locus coeruleus magnetic resonance imaging?
J Neural Transm (Vienna)
; 131(2): 157-164, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38032367
4.
Assessment of diagnostic criteria for multifocal motor neuropathy in patients included in the Italian database.
Eur J Neurol
; 31(5): e16248, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38376074
5.
Impact of 2021 European Academy of Neurology/Peripheral Nerve Society diagnostic criteria on diagnosis and therapy of chronic inflammatory demyelinating polyradiculoneuropathy variants.
Eur J Neurol
; 31(4): e16190, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38165011
6.
Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study.
Cell Mol Life Sci
; 80(8): 241, 2023 Aug 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37543540
7.
A case of early disease rebound after fingolimod discontinuation in a patient with multiple sclerosis and SARS-CoV-2 infection.
Neurol Sci
; 45(6): 2423-2426, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38546935
8.
Cardiac comorbidities in McArdle disease: case report and systematic review.
Neurol Sci
; 2024 May 27.
Artigo
Inglês
| MEDLINE | ID: mdl-38802689
9.
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
Curr Issues Mol Biol
; 45(4): 2847-2860, 2023 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37185710
10.
Unclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy.
J Neurol Neurosurg Psychiatry
; 94(8): 614-621, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37015771
11.
Magnetic resonance imaging Locus Coeruleus abnormality in amnestic Mild Cognitive Impairment is associated with future progression to dementia.
Eur J Neurol
; 30(1): 32-46, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36086917
12.
Risk of disease relapse, safety and tolerability of SARS-CoV-2 vaccination in patients with chronic inflammatory neuropathies.
Eur J Neurol
; 30(7): 1907-1918, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37000158
13.
Effect of RNS60 in amyotrophic lateral sclerosis: a phase II multicentre, randomized, double-blind, placebo-controlled trial.
Eur J Neurol
; 30(1): 69-86, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36148821
14.
The role of magnetic resonance imaging in the diagnostic work-out of myopathies: differential diagnosis between inflammatory myopathies and muscular dystrophies.
Clin Exp Rheumatol
; 41(2): 301-308, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36826782
15.
Pre-existing frontal lobe dysfunction signs as predictors of subsequent neurotoxicity in CAR T cell therapy: insights from a case series.
Neurol Sci
; 44(9): 3291-3297, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-37160803
16.
A case of intravascular large B cell lymphoma with brain involvement mimicking progressive multifocal leukoencephalopathy.
Int J Neurosci
; 133(7): 735-739, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-34425062
17.
Pathophysiology and Management of Fatigue in Neuromuscular Diseases.
Int J Mol Sci
; 24(5)2023 Mar 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36902435
18.
Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?
Int J Mol Sci
; 24(23)2023 Nov 25.
Artigo
Inglês
| MEDLINE | ID: mdl-38069070
19.
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Neurogenetics
; 23(1): 19-25, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34608571
20.
Biological determinants of blood-based cytokines in the Alzheimer's disease clinical continuum.
J Neurochem
; 163(1): 40-52, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35950445