Detalhe da pesquisa
1.
Nusinersen in adults with type 3 spinal muscular atrophy: long-term outcomes on motor and respiratory function.
Neurol Sci
; 45(6): 2887-2891, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38589769
2.
Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene.
J Peripher Nerv Syst
; 24(4): 354-358, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31596031
3.
Pain, sleep patterns and health-related quality of life in paediatric patients with cancer.
Eur J Cancer Care (Engl)
; 28(4): e13029, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30828888
4.
Diaphragm weakness in late-onset Pompe disease: A complex interplay between lower motor neuron and muscle fibre degeneration.
J Neurol Sci
; 460: 123021, 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38653115
5.
Updated Evaluation of the Safety, Efficacy and Tolerability of Tafamidis in the Treatment of Hereditary Transthyretin Amyloid Polyneuropathy.
Drug Healthc Patient Saf
; 15: 51-62, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36824481
6.
Trends in the diagnostic delay and pathway for amyotrophic lateral sclerosis patients across different countries.
Front Neurol
; 13: 1064619, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36733448
7.
Delayed Diagnosis and Diagnostic Pathway of ALS Patients in Portugal: Where Can We Improve?
Front Neurol
; 12: 761355, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34803894
8.
Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum.
J Clin Neurosci
; 64: 8-10, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30955949
9.
Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands.
Case Rep Neurol Med
; 2019: 5976410, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31885962
10.
Non-invasive evaluation of sudomotor function in patients with myasthenia gravis.
Neurophysiol Clin
; 49(1): 81-86, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30554965
11.
Neuropathy progression in hereditary transthyretin amyloidosis (ATTRv) patients after liver transplantation.
Amyloid
; 30(4): 440-441, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353941
12.
Riluzole-induced recurrent pancreatitis.
J Clin Neurosci
; 45: 153-154, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28867362
13.
Combined central and peripheral demyelination after COVID-19 vaccination.
J Neurol
; 269(9): 4618-4622, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35585333
14.
Misdiagnosis in late versus early onset hATTR amyloidosis patients: experience from a reference centre.
Amyloid
; 26(sup1): 37-38, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31343293
15.
Early diagnostic tools in hereditary amyloidosis related to transthyretin (hATTR) V30M autonomic neuropathy.
Amyloid
; 26(sup1): 35-36, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31343294
16.
Pain assessment using the adolescent pediatric pain tool: a systematic review.
Pain Res Manag
; 19(4): 212-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24950413
17.
Neurophysiologic characterization of periodic paralysis episode in a patient with Andersen-Tawil syndrome.
Clin Neurophysiol
; 129(3): 558-559, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29353185