Detalhe da pesquisa
1.
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
Brain
; 146(10): 4233-4246, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186601
2.
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Neuropathol Appl Neurobiol
; : e12952, 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38124360
3.
Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.
Eur J Neurol
; 30(8): 2506-2517, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166430
4.
Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.
Int J Mol Sci
; 24(22)2023 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003406
5.
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Acta Neuropathol
; 144(4): 707-731, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948834
6.
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.
Eur Heart J
; 42(20): 1976-1984, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33748842
7.
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Eur J Neurol
; 28(6): 2092-2102, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715265
8.
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Brain
; 143(2): 452-466, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040565
9.
Risk factors associated with myasthenia gravis in thymoma patients: The potential role of thymic germinal centers.
J Autoimmun
; 106: 102337, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31594658
10.
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.
Muscle Nerve
; 61(4): 491-495, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31944327
11.
Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases.
J Inherit Metab Dis
; 43(3): 459-466, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31652339
12.
A high prevalence of arterial hypertension in patients with mitochondrial diseases.
J Inherit Metab Dis
; 43(3): 478-485, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31762033
13.
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
J Med Genet
; 56(9): 590-601, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31010831
14.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Am J Hum Genet
; 99(3): 753-761, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569547
15.
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Ann Neurol
; 81(3): 467-473, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28220527
16.
The role of electrodiagnosis with long exercise test in mcardle disease.
Muscle Nerve
; 2018 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29350794
17.
Marathons and myasthenia gravis: a case report.
BMC Neurol
; 18(1): 145, 2018 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30227849
18.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
Brain
; 140(1): 37-48, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27816943
19.
Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1.
Eur Heart J
; 38(10): 751-758, 2017 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27941019
20.
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Hum Mutat
; 38(5): 556-568, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28144995