Detalhe da pesquisa
1.
Molecular mechanisms and therapeutic strategies for neuromuscular diseases.
Cell Mol Life Sci
; 81(1): 198, 2024 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38678519
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
em Inglês
| MEDLINE | ID: mdl-37695206
3.
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
4.
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.
J Neurol Neurosurg Psychiatry
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38839277
5.
Overcoming therapeutic challenges: Successful management of a supposedly triple seronegative, refractory generalized myasthenia gravis patient with efgartigimod.
Eur J Neurol
; 31(7): e16306, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38716750
6.
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
Brain
; 146(3): 806-822, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36445400
7.
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
8.
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Eur J Neurol
; 30(2): 511-526, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36260368
9.
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
10.
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.
Hum Mol Genet
; 29(2): 177-188, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31868880
11.
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
12.
Dipeptidyl peptidase 4/CD26 expression in human idiopathic inflammatory myopathies reveals skeletal muscle injury and vascular inflammation.
Clin Exp Rheumatol
; 40(2): 237-246, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34796850
13.
Alteration of the late endocytic pathway in Charcot-Marie-Tooth type 2B disease.
Cell Mol Life Sci
; 78(1): 351-372, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32280996
14.
Loss of function MPZ mutation causes milder CMT1B neuropathy.
J Peripher Nerv Syst
; 26(2): 177-183, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33960567
15.
Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies.
Clin Neuropathol
; 40(6): 310-318, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281632
16.
Prostaglandin D2 synthase modulates macrophage activity and accumulation in injured peripheral nerves.
Glia
; 68(1): 95-110, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31479164
17.
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
em Inglês
| MEDLINE | ID: mdl-31070812
18.
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
19.
Rimeporide as a ï¬rst- in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy.
Pharmacol Res
; 159: 104999, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32535224
20.
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Ann Intern Med
; 171(7): 458-463, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31476771