Detalhe da pesquisa
1.
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
J Med Genet
; 2024 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38871447
2.
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
3.
What is the best treatment strategy before autologous peripheral blood stem cell transplantation in POEMS syndrome?
Haematologica
; 109(3): 888-894, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37646655
4.
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
5.
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
6.
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
em Inglês
| MEDLINE | ID: mdl-38165011
7.
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.
J Peripher Nerv Syst
; 2024 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38874107
8.
COVID-19-associated serum and cerebrospinal fluid cytokines in post- versus para-infectious SARS-CoV-2-related Guillain-Barré syndrome.
Neurol Sci
; 45(3): 849-859, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38169013
9.
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy.
Proc Natl Acad Sci U S A
; 118(10)2021 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33653949
10.
Unclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy.
J Neurol Neurosurg Psychiatry
; 94(8): 614-621, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37015771
11.
Recurrent motor branch neuropathy in carpal tunnel syndrome: An ultrasound study.
Muscle Nerve
; 68(2): 184-190, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37303243
12.
Mild behavioral impairment as a potential marker of predementia risk states in motor neuron diseases.
Eur J Neurol
; 30(1): 47-56, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36148819
13.
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
14.
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
15.
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
J Peripher Nerv Syst
; 28(4): 620-628, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37897416
16.
The PRESTO study: awareness of stroke symptoms and time from onset to intervention.
Neurol Sci
; 44(1): 229-236, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190685
17.
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Neuropathol Appl Neurobiol
; 48(7): e12842, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904184
18.
Comparison of the diagnostic accuracy of the 2021 EAN/PNS and 2010 EFNS/PNS diagnostic criteria for chronic inflammatory demyelinating polyradiculoneuropathy.
J Neurol Neurosurg Psychiatry
; 93(12): 1239-1246, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190959
19.
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
20.
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