Detalhe da pesquisa
1.
Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans.
Ann Neurol;
95(3): 442-458, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38062617
2.
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
3.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Brain;
146(4): 1420-1435, 2023 04 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36718090
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.
Psychometric evaluation of modified spinal muscular atrophy functional rating scale (SMAFRS) in adult patients using Rasch analysis.
Muscle Nerve;
67(3): 239-243, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36605016
6.
Longitudinal dysphagia assessment in adult patients with nephropathic cystinosis using the Modified Barium Swallow Impairment Profile.
Muscle Nerve;
66(2): 223-226, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35616433
7.
Feasibility of simultaneous high-resolution anatomical and quantitative magnetic resonance imaging of sciatic nerves in patients with Charcot-Marie-Tooth type 1A (CMT1A) at 7T.
Muscle Nerve;
66(2): 206-211, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35621349
8.
Case 19-2023: An 80-Year-Old Man with Left Foot Drop.
N Engl J Med;
388(25): 2379-2387, 2023 Jun 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37342926
9.
Psychometric longitudinal evaluation of the Chronic Acquired Polyneuropathy Patient-Reported Index (CAPPRI) in patients with chronic inflammatory demyelinating polyneuropathy.
Muscle Nerve;
63(1): 84-88, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33043466
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.
Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis.
Muscle Nerve;
62(6): 681-687, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32737993
12.
Clinical myopathy in patients with nephropathic cystinosis.
Muscle Nerve;
61(1): 74-80, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31588568
13.
Chronic Acquired Polyneuropathy Patient Reported Index (CAPPRI) in chronic inflammatory demyelinating polyradiculoneuropathy.
J Peripher Nerv Syst;
24(3): 247-252, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31209940
14.
Measurement of tear production and intraocular pressure in ducks and geese.
Vet Ophthalmol;
20(1): 53-57, 2017 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26785687
15.
Construction and validation of the chronic acquired polyneuropathy patient-reported index (CAP-PRI): A disease-specific, health-related quality-of-life instrument.
Muscle Nerve;
54(1): 9-17, 2016 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26600438
16.
International clinimetric evaluation of the MG-QOL15, resulting in slight revision and subsequent validation of the MG-QOL15r.
Muscle Nerve;
54(6): 1015-1022, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27220659
17.
MEASUREMENT OF INTRAOCULAR PRESSURE USING TONOVET® IN EUROPEAN POND TURTLE (EMYS ORBICULARIS).
J Zoo Wildl Med;
46(2): 421-2, 2015 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26056909
18.
Rasch analysis of clinical outcome measures in spinal muscular atrophy.
Muscle Nerve;
49(3): 422-30, 2014 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23836324
19.
Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis.
J Peripher Nerv Syst;
19(3): 192-6, 2014 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25400013
20.
A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease.
Clin Rehabil;
28(5): 508-19, 2014 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24240060