Detalhe da pesquisa
1.
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Ann Neurol
; 93(3): 563-576, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36203352
2.
Parent-proxy pediatric CMT quality of life outcome measure: Validation of the Italian version.
J Peripher Nerv Syst
; 29(1): 107-110, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38329138
3.
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Brain
; 146(9): 3826-3835, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36947133
4.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Brain
; 146(10): 4336-4349, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37284795
5.
Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure.
J Peripher Nerv Syst
; 28(2): 237-251, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36748295
6.
Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years.
J Peripher Nerv Syst
; 28(3): 382-389, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166413
7.
Development and Validation of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure.
Ann Neurol
; 89(2): 369-379, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33222249
8.
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 93(5): 530-538, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35140138
9.
Validation of the Italian version of the pediatric CMT quality of life outcome measure.
J Peripher Nerv Syst
; 27(2): 127-130, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35416371
10.
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Brain
; 143(12): 3589-3602, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415332
11.
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Brain
; 138(Pt 11): 3180-92, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26310628
12.
Defining disability: development and validation of a mobility-Disability Severity Index (mDSI) in Charcot-Marie-tooth disease.
J Neurol Neurosurg Psychiatry
; 86(6): 635-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25157034
13.
Safety and Efficacy of Nipocalimab in Patients With Generalized Myasthenia Gravis: Results From the Randomized Phase 2 Vivacity-MG Study
Neurology
; 102(2): e207937, 2024 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165333
14.
Anterior tibialis CMAP amplitude correlations with impairment in CMT1A.
Muscle Nerve
; 47(4): 493-6, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23456782
15.
An update on monoclonal gammopathy and neuropathy.
Curr Neurol Neurosci Rep
; 12(1): 102-10, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22090258
16.
Patient Assisted Intervention for Neuropathy: Comparison of Treatment in Real Life Situations (PAIN-CONTRoLS): Bayesian Adaptive Comparative Effectiveness Randomized Trial.
JAMA Neurol
; 78(1): 68-76, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32809014
17.
Hypoglossal nerve conduction findings in obstructive sleep apnea.
Muscle Nerve
; 42(2): 257-61, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20544939
18.
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
Neurology
; 94(9): e884-e896, 2020 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32047073
19.
Monoclonal gammopathy and neuropathy.
Curr Opin Neurol
; 22(5): 480-5, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19625962
20.
Peripheral neuropathy in survivors of childhood acute lymphoblastic leukemia.
J Peripher Nerv Syst
; 14(3): 184-9, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19909482