Detalhe da pesquisa
1.
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Genet Med
; 26(6): 101117, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459834
2.
Clinical characteristics and outcomes of thymoma-associated myasthenia gravis.
Eur J Neurol
; 28(6): 2083-2091, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33721382
3.
Ultrasonography of cervical nerve roots: cross-sectional reference values according to age.
Neurol Sci
; 42(1): 215-223, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32617742
4.
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 90(5): 576-585, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30530568
5.
A unicenter, prospective study of Guillain-Barré syndrome in Spain.
Acta Neurol Scand
; 139(6): 546-554, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929269
6.
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations.
J Med Genet
; 55(12): 814-823, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30415211
7.
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.
Ann Neurol
; 80(6): 823-833, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27686364
8.
Peripheral neuropathy in complex inherited diseases: an approach to diagnosis.
J Neurol Neurosurg Psychiatry
; 88(10): 846-863, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28794150
9.
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.
J Neurol Neurosurg Psychiatry
; 88(11): 941-952, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28860329
10.
Electromyographic tendon reflex recording: An accurate and comfortable method for diagnosis of charcot-marie-tooth disease type 1a.
Muscle Nerve
; 52(1): 39-44, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25363904
11.
MFN2 deletion of exons 7 and 8: founder mutation in the UK population.
J Peripher Nerv Syst
; 20(2): 67-71, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26114802
12.
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Neurology
; 102(7): e209174, 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38513194
13.
Comment on paraparetic Guillain-Barré syndrome: Non-demyelinating reversible conduction failure restricted to the lower limbs.
Muscle Nerve
; 55(3): 445-446, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27699790
14.
Epidemiological and genetic features of anti-3hydroxy-3-methylglutaryl-CoA reductase necrotizing myopathy: Single-center experience and literature review.
Eur J Intern Med
; 101: 86-92, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35487805
15.
Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.
Ann Clin Transl Neurol
; 9(2): 122-131, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35080153
16.
Early axonal Guillain-Barré syndrome with normal peripheral conduction: imaging evidence for changes in proximal nerve segments.
J Neurol Neurosurg Psychiatry
; 87(5): 563-5, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25972276
17.
An observational study of asymmetry in CMT1A.
J Neurol Neurosurg Psychiatry
; 86(5): 589-90, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25313262
19.
Overview of treatments used in transthyretin-related hereditary amyloidosis: a systematic review.
Eur J Hosp Pharm
; 27(4): 194-201, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32587078
20.
Very early Guillain-Barré syndrome: A clinical-electrophysiological and ultrasonographic study.
Clin Neurophysiol Pract
; 5: 1-9, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31886449