Detalhe da pesquisa
1.
Chronic inflammatory demyelinating polyradiculoneuropathy: can a diagnosis be made in patients not fulfilling electrodiagnostic criteria?
Eur J Neurol
; 28(2): 620-629, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32959475
2.
Treadmill training in patients affected by Charcot-Marie-Tooth neuropathy: results of a multicenter, prospective, randomized, single-blind, controlled study.
Eur J Neurol
; 27(2): 280-287, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31444929
3.
Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations--different outcome?
Clin Genet
; 89(1): 88-92, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25817890
4.
Gastrointestinal involvement in Fabry disease. So important, yet often neglected.
Clin Genet
; 89(1): 5-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333625
5.
Nerve conduction velocity in CMT1A: what else can we tell?
Eur J Neurol
; 23(10): 1566-71, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27412484
6.
Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch(™) Activity Monitor and identification of the walking features related to higher quality of life.
Eur J Neurol
; 23(8): 1343-50, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27160471
7.
Evaluation of Bone Mineral Density in Patients with Type 1 Gaucher Disease in Argentina.
J Clin Densitom
; 19(4): 444-449, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27574779
8.
Guillain-Barré syndrome following chickenpox: a case series.
Int J Neurosci
; 126(5): 478-9, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26000930
9.
p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.
Clin Genet
; 88(4): 376-80, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25256405
10.
Contribution of copy number variations in CMT1X: a retrospective study.
Eur J Neurol
; 22(2): 406-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24724718
11.
Responsiveness of clinical outcome measures in Charcot-Marie-Tooth disease.
Eur J Neurol
; 22(12): 1556-63, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26227902
12.
Physician-assessed and patient-reported outcome measures in chemotherapy-induced sensory peripheral neurotoxicity: two sides of the same coin.
Ann Oncol
; 25(1): 257-64, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24256846
13.
Is overwork weakness relevant in Charcot-Marie-Tooth disease?
J Neurol Neurosurg Psychiatry
; 85(12): 1354-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24659795
14.
The chemotherapy-induced peripheral neuropathy outcome measures standardization study: from consensus to the first validity and reliability findings.
Ann Oncol
; 24(2): 454-462, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22910842
15.
A novel prion protein gene-truncating mutation causing autonomic neuropathy and diarrhea.
Eur J Neurol
; 25(8): e91-e92, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29984897
16.
Abruptio placentae in cynomolgus macaques (Macaca fascicularis): male bias.
J Med Primatol
; 42(4): 204-10, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23621893
17.
Consistence and discrepancy of neuropathic pain screening tools DN4 and ID-Pain.
Neurol Sci
; 34(3): 373-7, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22434411
18.
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
Nat Genet
; 25(1): 17-9, 2000 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-10802647
19.
Expert recommendations for the laboratory diagnosis of MPS VI.
Mol Genet Metab
; 106(1): 73-82, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22405600
20.
Rituximab in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a report of 13 cases and review of the literature.
J Neurol Neurosurg Psychiatry
; 82(3): 306-8, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20639381